Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
All (HP:0000001)

Parent Node:
Phenotypic abnormality (HP:0000118)

..Starting node
..Abnormality of the ear (HP:0000598)

Term ID:

598

Name:

Abnormality of the ear

Synonym:

Abnormality of the ear; Ear anomaly

Definition:

An abnormality of the ear.

Comments:

Reference:

HP:0000598

Genes and Diseases:

Child Nodes:

........

Abnormal ear morphology (HP:0031703)

................... HP:0000356 Abnormality of the outer ear
................... HP:0000359 Abnormality of the inner ear
................... HP:0000370 Abnormality of the middle ear
................... HP:0008771 Aplasia/Hypoplasia of the ear
................... HP:0012780 Neoplasm of the ear

........

Abnormal ear physiology (HP:0031704)

................... HP:0000364 Hearing abnormality
................... HP:0030766 Ear pain

Sister Nodes:

Abnormal cellular phenotype (HP:0025354)

Abnormality of blood and blood-forming tissues (HP:0001871)

Abnormality of connective tissue (HP:0003549)

Abnormality of head or neck (HP:0000152)

Abnormality of limbs (HP:0040064)

Abnormality of metabolism/homeostasis (HP:0001939)

Abnormality of prenatal development or birth (HP:0001197)

Abnormality of the breast (HP:0000769)

Abnormality of the cardiovascular system (HP:0001626)

Abnormality of the digestive system (HP:0025031)

Abnormality of the endocrine system (HP:0000818)

Abnormality of the eye (HP:0000478)

Abnormality of the genitourinary system (HP:0000119)

Abnormality of the immune system (HP:0002715)

Abnormality of the integument (HP:0001574)

Abnormality of the musculature (HP:0003011)

Abnormality of the nervous system (HP:0000707)

Abnormality of the respiratory system (HP:0002086)

Abnormality of the skeletal system (HP:0000924)

Abnormality of the thoracic cavity (HP:0045027)

Abnormality of the voice (HP:0001608)

Constitutional symptom (HP:0025142)

Growth abnormality (HP:0001507)

Neoplasm (HP:0002664)

obsolete Abnormal test result (HP:0500014)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000598	HP:0000598	Abnormality of the ear	0	A2ML1 CL E G H	144568	23336	OMIM:166760	Otitis media, susceptibility to			120
HP:0000598	HP:0000598	Abnormality of the ear	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0000598	HP:0000598	Abnormality of the ear	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0000598	HP:0000598	Abnormality of the ear	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000598	HP:0000598	Abnormality of the ear	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			130
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis			130
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria			20
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCC1 CL E G H	4363	51	OMIM:618915	DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77			22
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy			254
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0000598	HP:0000598	Abnormality of the ear	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0000598	HP:0000598	Abnormality of the ear	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000598	HP:0000598	Abnormality of the ear	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000598	HP:0000598	Abnormality of the ear	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0000598	HP:0000598	Abnormality of the ear	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0000598	HP:0000598	Abnormality of the ear	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000598	HP:0000598	Abnormality of the ear	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000598	HP:0000598	Abnormality of the ear	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000598	HP:0000598	Abnormality of the ear	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000598	HP:0000598	Abnormality of the ear	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0000598	HP:0000598	Abnormality of the ear	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0000598	HP:0000598	Abnormality of the ear	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0000598	HP:0000598	Abnormality of the ear	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0000598	HP:0000598	Abnormality of the ear	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000598	HP:0000598	Abnormality of the ear	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0000598	HP:0000598	Abnormality of the ear	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0000598	HP:0000598	Abnormality of the ear	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy			208
HP:0000598	HP:0000598	Abnormality of the ear	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0000598	HP:0000598	Abnormality of the ear	0	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20			123
HP:0000598	HP:0000598	Abnormality of the ear	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0000598	HP:0000598	Abnormality of the ear	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy			307
HP:0000598	HP:0000598	Abnormality of the ear	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0000598	HP:0000598	Abnormality of the ear	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0000598	HP:0000598	Abnormality of the ear	0	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency			13
HP:0000598	HP:0000598	Abnormality of the ear	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency			13
HP:0000598	HP:0000598	Abnormality of the ear	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency			75
HP:0000598	HP:0000598	Abnormality of the ear	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0000598	Abnormality of the ear	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome			22
HP:0000598	HP:0000598	Abnormality of the ear	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0000598	HP:0000598	Abnormality of the ear	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0000598	HP:0000598	Abnormality of the ear	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0000598	HP:0000598	Abnormality of the ear	0	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus			8
HP:0000598	HP:0000598	Abnormality of the ear	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0000598	HP:0000598	Abnormality of the ear	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0000598	HP:0000598	Abnormality of the ear	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0000598	HP:0000598	Abnormality of the ear	0	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44			2
HP:0000598	HP:0000598	Abnormality of the ear	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0000598	HP:0000598	Abnormality of the ear	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000598	HP:0000598	Abnormality of the ear	0	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC			530
HP:0000598	HP:0000598	Abnormality of the ear	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0000598	HP:0000598	Abnormality of the ear	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000598	HP:0000598	Abnormality of the ear	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000598	HP:0000598	Abnormality of the ear	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000598	HP:0000598	Abnormality of the ear	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0000598	HP:0000598	Abnormality of the ear	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0000598	HP:0000598	Abnormality of the ear	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000598	HP:0000598	Abnormality of the ear	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0000598	HP:0000598	Abnormality of the ear	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0000598	HP:0000598	Abnormality of the ear	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000598	HP:0000598	Abnormality of the ear	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0000598	HP:0000598	Abnormality of the ear	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000598	Abnormality of the ear	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000598	HP:0000598	Abnormality of the ear	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0000598	HP:0000598	Abnormality of the ear	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000598	HP:0000598	Abnormality of the ear	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000598	HP:0000598	Abnormality of the ear	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000598	HP:0000598	Abnormality of the ear	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0000598	HP:0000598	Abnormality of the ear	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0000598	HP:0000598	Abnormality of the ear	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000598	HP:0000598	Abnormality of the ear	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000598	HP:0000598	Abnormality of the ear	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000598	Abnormality of the ear	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome			60
HP:0000598	HP:0000598	Abnormality of the ear	0	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5			60
HP:0000598	HP:0000598	Abnormality of the ear	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0000598	HP:0000598	Abnormality of the ear	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4			60
HP:0000598	HP:0000598	Abnormality of the ear	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0000598	HP:0000598	Abnormality of the ear	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000598	HP:0000598	Abnormality of the ear	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0000598	HP:0000598	Abnormality of the ear	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000598	HP:0000598	Abnormality of the ear	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0000598	HP:0000598	Abnormality of the ear	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0000598	HP:0000598	Abnormality of the ear	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0000598	HP:0000598	Abnormality of the ear	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000598	HP:0000598	Abnormality of the ear	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000598	HP:0000598	Abnormality of the ear	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0000598	HP:0000598	Abnormality of the ear	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0000598	HP:0000598	Abnormality of the ear	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0000598	HP:0000598	Abnormality of the ear	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0000598	HP:0000598	Abnormality of the ear	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0000598	HP:0000598	Abnormality of the ear	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000598	HP:0000598	Abnormality of the ear	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000598	HP:0000598	Abnormality of the ear	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0000598	HP:0000598	Abnormality of the ear	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0000598	Abnormality of the ear	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000598	HP:0000598	Abnormality of the ear	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			75
HP:0000598	HP:0000598	Abnormality of the ear	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0000598	HP:0000598	Abnormality of the ear	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			63
HP:0000598	HP:0000598	Abnormality of the ear	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0000598	HP:0000598	Abnormality of the ear	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0000598	HP:0000598	Abnormality of the ear	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0000598	Abnormality of the ear	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000598	HP:0000598	Abnormality of the ear	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0000598	HP:0000598	Abnormality of the ear	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0000598	Abnormality of the ear	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0000598	Abnormality of the ear	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9			21
HP:0000598	HP:0000598	Abnormality of the ear	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0000598	HP:0000598	Abnormality of the ear	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000598	HP:0000598	Abnormality of the ear	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0000598	HP:0000598	Abnormality of the ear	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0000598	HP:0000598	Abnormality of the ear	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0000598	HP:0000598	Abnormality of the ear	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy			95
HP:0000598	HP:0000598	Abnormality of the ear	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000598	HP:0000598	Abnormality of the ear	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000598	HP:0000598	Abnormality of the ear	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0000598	HP:0000598	Abnormality of the ear	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000598	HP:0000598	Abnormality of the ear	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0000598	HP:0000598	Abnormality of the ear	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0000598	HP:0000598	Abnormality of the ear	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000598	HP:0000598	Abnormality of the ear	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000598	HP:0000598	Abnormality of the ear	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0000598	HP:0000598	Abnormality of the ear	0	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000598	HP:0000598	Abnormality of the ear	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000598	HP:0000598	Abnormality of the ear	0	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000598	HP:0000598	Abnormality of the ear	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0000598	HP:0000598	Abnormality of the ear	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0000598	HP:0000598	Abnormality of the ear	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000598	HP:0000598	Abnormality of the ear	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0000598	HP:0000598	Abnormality of the ear	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8			3
HP:0000598	HP:0000598	Abnormality of the ear	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000598	HP:0000598	Abnormality of the ear	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0000598	HP:0000598	Abnormality of the ear	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000598	HP:0000598	Abnormality of the ear	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0000598	HP:0000598	Abnormality of the ear	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0000598	HP:0000598	Abnormality of the ear	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000598	HP:0000598	Abnormality of the ear	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0000598	HP:0000598	Abnormality of the ear	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0000598	Abnormality of the ear	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0000598	HP:0000598	Abnormality of the ear	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000598	Abnormality of the ear	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0000598	HP:0000598	Abnormality of the ear	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000598	HP:0000598	Abnormality of the ear	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000598	HP:0000598	Abnormality of the ear	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0000598	HP:0000598	Abnormality of the ear	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0000598	HP:0000598	Abnormality of the ear	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0000598	HP:0000598	Abnormality of the ear	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0000598	HP:0000598	Abnormality of the ear	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0000598	HP:0000598	Abnormality of the ear	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000598	Abnormality of the ear	0	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000598	HP:0000598	Abnormality of the ear	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0000598	HP:0000598	Abnormality of the ear	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0000598	HP:0000598	Abnormality of the ear	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0000598	HP:0000598	Abnormality of the ear	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0000598	HP:0000598	Abnormality of the ear	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000598	HP:0000598	Abnormality of the ear	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0000598	HP:0000598	Abnormality of the ear	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0000598	HP:0000598	Abnormality of the ear	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0000598	HP:0000598	Abnormality of the ear	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0000598	HP:0000598	Abnormality of the ear	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000598	HP:0000598	Abnormality of the ear	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0000598	HP:0000598	Abnormality of the ear	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000598	HP:0000598	Abnormality of the ear	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000598	HP:0000598	Abnormality of the ear	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000598	HP:0000598	Abnormality of the ear	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			71
HP:0000598	HP:0000598	Abnormality of the ear	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome			150
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness			67
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0000598	HP:0000598	Abnormality of the ear	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0000598	HP:0000598	Abnormality of the ear	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0000598	HP:0000598	Abnormality of the ear	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000598	HP:0000598	Abnormality of the ear	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000598	HP:0000598	Abnormality of the ear	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000598	HP:0000598	Abnormality of the ear	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000598	HP:0000598	Abnormality of the ear	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000598	HP:0000598	Abnormality of the ear	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000598	HP:0000598	Abnormality of the ear	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0000598	HP:0000598	Abnormality of the ear	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0000598	HP:0000598	Abnormality of the ear	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0000598	HP:0000598	Abnormality of the ear	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0000598	Abnormality of the ear	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0000598	HP:0000598	Abnormality of the ear	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0000598	HP:0000598	Abnormality of the ear	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000598	HP:0000598	Abnormality of the ear	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0000598	Abnormality of the ear	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0000598	Abnormality of the ear	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000598	HP:0000598	Abnormality of the ear	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000598	HP:0000598	Abnormality of the ear	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0000598	HP:0000598	Abnormality of the ear	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0000598	HP:0000598	Abnormality of the ear	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0000598	HP:0000598	Abnormality of the ear	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0000598	HP:0000598	Abnormality of the ear	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy			204
HP:0000598	HP:0000598	Abnormality of the ear	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000598	Abnormality of the ear	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000598	HP:0000598	Abnormality of the ear	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000598	HP:0000598	Abnormality of the ear	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0000598	HP:0000598	Abnormality of the ear	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000598	HP:0000598	Abnormality of the ear	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000598	HP:0000598	Abnormality of the ear	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0000598	HP:0000598	Abnormality of the ear	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0000598	HP:0000598	Abnormality of the ear	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0000598	HP:0000598	Abnormality of the ear	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000598	HP:0000598	Abnormality of the ear	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0000598	HP:0000598	Abnormality of the ear	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0000598	HP:0000598	Abnormality of the ear	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0000598	HP:0000598	Abnormality of the ear	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0000598	HP:0000598	Abnormality of the ear	0	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0000598	HP:0000598	Abnormality of the ear	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0000598	HP:0000598	Abnormality of the ear	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0000598	HP:0000598	Abnormality of the ear	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0000598	HP:0000598	Abnormality of the ear	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000598	HP:0000598	Abnormality of the ear	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000598	HP:0000598	Abnormality of the ear	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000598	HP:0000598	Abnormality of the ear	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0000598	HP:0000598	Abnormality of the ear	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome			72
HP:0000598	HP:0000598	Abnormality of the ear	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0000598	HP:0000598	Abnormality of the ear	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0000598	HP:0000598	Abnormality of the ear	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0000598	HP:0000598	Abnormality of the ear	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	BDP1 CL E G H	55814	13652	OMIM:618257	Deafness, autosomal recessive 112			2
HP:0000598	HP:0000598	Abnormality of the ear	0	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0000598	HP:0000598	Abnormality of the ear	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31			1
HP:0000598	HP:0000598	Abnormality of the ear	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000598	HP:0000598	Abnormality of the ear	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0000598	HP:0000598	Abnormality of the ear	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000598	Abnormality of the ear	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0000598	HP:0000598	Abnormality of the ear	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0000598	HP:0000598	Abnormality of the ear	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0000598	HP:0000598	Abnormality of the ear	0	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive			4
HP:0000598	HP:0000598	Abnormality of the ear	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0000598	HP:0000598	Abnormality of the ear	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0000598	HP:0000598	Abnormality of the ear	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0000598	HP:0000598	Abnormality of the ear	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000598	HP:0000598	Abnormality of the ear	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0000598	HP:0000598	Abnormality of the ear	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0000598	HP:0000598	Abnormality of the ear	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000598	HP:0000598	Abnormality of the ear	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0000598	HP:0000598	Abnormality of the ear	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0000598	HP:0000598	Abnormality of the ear	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0000598	HP:0000598	Abnormality of the ear	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0000598	HP:0000598	Abnormality of the ear	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000598	HP:0000598	Abnormality of the ear	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000598	HP:0000598	Abnormality of the ear	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000598	HP:0000598	Abnormality of the ear	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0000598	Abnormality of the ear	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0000598	HP:0000598	Abnormality of the ear	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000598	HP:0000598	Abnormality of the ear	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0000598	HP:0000598	Abnormality of the ear	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0000598	HP:0000598	Abnormality of the ear	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0000598	HP:0000598	Abnormality of the ear	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0000598	HP:0000598	Abnormality of the ear	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0000598	HP:0000598	Abnormality of the ear	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0000598	HP:0000598	Abnormality of the ear	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0000598	HP:0000598	Abnormality of the ear	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0000598	HP:0000598	Abnormality of the ear	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0000598	HP:0000598	Abnormality of the ear	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0000598	HP:0000598	Abnormality of the ear	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0000598	HP:0000598	Abnormality of the ear	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0000598	HP:0000598	Abnormality of the ear	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0000598	HP:0000598	Abnormality of the ear	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0000598	HP:0000598	Abnormality of the ear	0	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation			2
HP:0000598	HP:0000598	Abnormality of the ear	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0000598	HP:0000598	Abnormality of the ear	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0000598	HP:0000598	Abnormality of the ear	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000598	HP:0000598	Abnormality of the ear	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0000598	HP:0000598	Abnormality of the ear	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0000598	HP:0000598	Abnormality of the ear	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0000598	HP:0000598	Abnormality of the ear	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency			1
HP:0000598	HP:0000598	Abnormality of the ear	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0000598	HP:0000598	Abnormality of the ear	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000598	HP:0000598	Abnormality of the ear	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000598	HP:0000598	Abnormality of the ear	0	CABP2 CL E G H	51475	1385	OMIM:614899	Deafness, autosomal recessive 93			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy			449
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia			449
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6			449
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNA1D CL E G H	776	1391	OMIM:614896	Sinoatrial node dysfunction and deafness			51
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5			146
HP:0000598	HP:0000598	Abnormality of the ear	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5			146
HP:0000598	HP:0000598	Abnormality of the ear	0	CALM1 CL E G H	801	1442	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			18
HP:0000598	HP:0000598	Abnormality of the ear	0	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4			18
HP:0000598	HP:0000598	Abnormality of the ear	0	CALM2 CL E G H	805	1445	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			13
HP:0000598	HP:0000598	Abnormality of the ear	0	CALM3 CL E G H	808	1449	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			16
HP:0000598	HP:0000598	Abnormality of the ear	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000598	HP:0000598	Abnormality of the ear	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0000598	HP:0000598	Abnormality of the ear	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0000598	HP:0000598	Abnormality of the ear	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000598	Abnormality of the ear	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000598	HP:0000598	Abnormality of the ear	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0000598	HP:0000598	Abnormality of the ear	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000598	Abnormality of the ear	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0000598	HP:0000598	Abnormality of the ear	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0000598	HP:0000598	Abnormality of the ear	0	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0000598	HP:0000598	Abnormality of the ear	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000598	HP:0000598	Abnormality of the ear	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000598	HP:0000598	Abnormality of the ear	0	CASQ2 CL E G H	845	1513	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			129
HP:0000598	HP:0000598	Abnormality of the ear	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0000598	HP:0000598	Abnormality of the ear	0	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility			12
HP:0000598	HP:0000598	Abnormality of the ear	0	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome			12
HP:0000598	HP:0000598	Abnormality of the ear	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0000598	HP:0000598	Abnormality of the ear	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0000598	Abnormality of the ear	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0000598	HP:0000598	Abnormality of the ear	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000598	HP:0000598	Abnormality of the ear	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000598	HP:0000598	Abnormality of the ear	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0000598	HP:0000598	Abnormality of the ear	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000598	HP:0000598	Abnormality of the ear	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC50 CL E G H	152137	18111	OMIM:607453	DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44			35
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27			23
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0000598	HP:0000598	Abnormality of the ear	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0000598	HP:0000598	Abnormality of the ear	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0000598	Abnormality of the ear	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0000598	HP:0000598	Abnormality of the ear	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000598	HP:0000598	Abnormality of the ear	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000598	HP:0000598	Abnormality of the ear	0	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0000598	HP:0000598	Abnormality of the ear	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2			38
HP:0000598	HP:0000598	Abnormality of the ear	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3			38
HP:0000598	HP:0000598	Abnormality of the ear	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0000598	HP:0000598	Abnormality of the ear	0	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19			18
HP:0000598	HP:0000598	Abnormality of the ear	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0000598	HP:0000598	Abnormality of the ear	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18			24
HP:0000598	HP:0000598	Abnormality of the ear	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0000598	HP:0000598	Abnormality of the ear	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17			19
HP:0000598	HP:0000598	Abnormality of the ear	0	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive			9
HP:0000598	HP:0000598	Abnormality of the ear	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0000598	HP:0000598	Abnormality of the ear	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive			6
HP:0000598	HP:0000598	Abnormality of the ear	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0000598	HP:0000598	Abnormality of the ear	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000598	HP:0000598	Abnormality of the ear	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0000598	HP:0000598	Abnormality of the ear	0	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000598	Abnormality of the ear	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0000598	Abnormality of the ear	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000598	HP:0000598	Abnormality of the ear	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000598	HP:0000598	Abnormality of the ear	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000598	HP:0000598	Abnormality of the ear	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0000598	HP:0000598	Abnormality of the ear	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0000598	HP:0000598	Abnormality of the ear	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000598	HP:0000598	Abnormality of the ear	0	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12			636
HP:0000598	HP:0000598	Abnormality of the ear	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000598	HP:0000598	Abnormality of the ear	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000598	HP:0000598	Abnormality of the ear	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000598	HP:0000598	Abnormality of the ear	0	CDH23 CL E G H	64072	13733	OMIM:601067	Usher syndrome, type ID			636
HP:0000598	HP:0000598	Abnormality of the ear	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000598	HP:0000598	Abnormality of the ear	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000598	HP:0000598	Abnormality of the ear	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0000598	HP:0000598	Abnormality of the ear	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000598	HP:0000598	Abnormality of the ear	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0000598	HP:0000598	Abnormality of the ear	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome			114
HP:0000598	HP:0000598	Abnormality of the ear	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0000598	HP:0000598	Abnormality of the ear	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0000598	HP:0000598	Abnormality of the ear	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0000598	HP:0000598	Abnormality of the ear	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0000598	HP:0000598	Abnormality of the ear	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0000598	HP:0000598	Abnormality of the ear	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0000598	HP:0000598	Abnormality of the ear	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000598	HP:0000598	Abnormality of the ear	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0000598	HP:0000598	Abnormality of the ear	0	CEACAM16 CL E G H	388551	31948	OMIM:614614	Deafness, autosomal dominant 4B			30
HP:0000598	HP:0000598	Abnormality of the ear	0	CEACAM16 CL E G H	388551	31948	OMIM:618410	DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113			30
HP:0000598	HP:0000598	Abnormality of the ear	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000598	Abnormality of the ear	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0000598	HP:0000598	Abnormality of the ear	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0000598	HP:0000598	Abnormality of the ear	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0000598	HP:0000598	Abnormality of the ear	0	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0000598	HP:0000598	Abnormality of the ear	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0000598	HP:0000598	Abnormality of the ear	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000598	HP:0000598	Abnormality of the ear	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000598	HP:0000598	Abnormality of the ear	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000598	HP:0000598	Abnormality of the ear	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			5
HP:0000598	HP:0000598	Abnormality of the ear	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0000598	HP:0000598	Abnormality of the ear	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0000598	HP:0000598	Abnormality of the ear	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0000598	HP:0000598	Abnormality of the ear	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000598	Abnormality of the ear	0	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000598	HP:0000598	Abnormality of the ear	0	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000598	HP:0000598	Abnormality of the ear	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency			57
HP:0000598	HP:0000598	Abnormality of the ear	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0000598	HP:0000598	Abnormality of the ear	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0000598	HP:0000598	Abnormality of the ear	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000598	HP:0000598	Abnormality of the ear	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0000598	HP:0000598	Abnormality of the ear	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0000598	HP:0000598	Abnormality of the ear	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0000598	HP:0000598	Abnormality of the ear	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0000598	Abnormality of the ear	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000598	Abnormality of the ear	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0000598	Abnormality of the ear	0	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia			515
HP:0000598	HP:0000598	Abnormality of the ear	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0000598	HP:0000598	Abnormality of the ear	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0000598	HP:0000598	Abnormality of the ear	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0000598	HP:0000598	Abnormality of the ear	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000598	HP:0000598	Abnormality of the ear	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000598	HP:0000598	Abnormality of the ear	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0000598	HP:0000598	Abnormality of the ear	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0000598	HP:0000598	Abnormality of the ear	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0000598	HP:0000598	Abnormality of the ear	0	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0000598	HP:0000598	Abnormality of the ear	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0000598	HP:0000598	Abnormality of the ear	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0000598	HP:0000598	Abnormality of the ear	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0000598	Abnormality of the ear	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0000598	HP:0000598	Abnormality of the ear	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000598	HP:0000598	Abnormality of the ear	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000598	HP:0000598	Abnormality of the ear	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000598	HP:0000598	Abnormality of the ear	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0000598	HP:0000598	Abnormality of the ear	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000598	Abnormality of the ear	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000598	Abnormality of the ear	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000598	HP:0000598	Abnormality of the ear	0	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48			15
HP:0000598	HP:0000598	Abnormality of the ear	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000598	HP:0000598	Abnormality of the ear	0	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ			15
HP:0000598	HP:0000598	Abnormality of the ear	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0000598	HP:0000598	Abnormality of the ear	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000598	HP:0000598	Abnormality of the ear	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2			3
HP:0000598	HP:0000598	Abnormality of the ear	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0000598	HP:0000598	Abnormality of the ear	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000598	Abnormality of the ear	0	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2			6
HP:0000598	HP:0000598	Abnormality of the ear	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II			44
HP:0000598	HP:0000598	Abnormality of the ear	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0000598	HP:0000598	Abnormality of the ear	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0000598	HP:0000598	Abnormality of the ear	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0000598	HP:0000598	Abnormality of the ear	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0000598	HP:0000598	Abnormality of the ear	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0000598	HP:0000598	Abnormality of the ear	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0000598	HP:0000598	Abnormality of the ear	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0000598	HP:0000598	Abnormality of the ear	0	CLDN14 CL E G H	23562	2035	OMIM:614035	Deafness, autosomal recessive 29			57
HP:0000598	HP:0000598	Abnormality of the ear	0	CLDN9 CL E G H	9080	2051	OMIM:619093	DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116
HP:0000598	HP:0000598	Abnormality of the ear	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0000598	HP:0000598	Abnormality of the ear	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3			13
HP:0000598	HP:0000598	Abnormality of the ear	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000598	HP:0000598	Abnormality of the ear	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000598	HP:0000598	Abnormality of the ear	0	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA			60
HP:0000598	HP:0000598	Abnormality of the ear	0	CLRN2 CL E G H	645104	33939	OMIM:619174	DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117
HP:0000598	HP:0000598	Abnormality of the ear	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000598	HP:0000598	Abnormality of the ear	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000598	HP:0000598	Abnormality of the ear	0	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal			47
HP:0000598	HP:0000598	Abnormality of the ear	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0000598	Abnormality of the ear	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0000598	HP:0000598	Abnormality of the ear	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0000598	HP:0000598	Abnormality of the ear	0	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0000598	Abnormality of the ear	0	COCH CL E G H	1690	2180	OMIM:618094	Deafness, autosomal recessive 110			46
HP:0000598	HP:0000598	Abnormality of the ear	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000598	HP:0000598	Abnormality of the ear	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000598	HP:0000598	Abnormality of the ear	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000598	HP:0000598	Abnormality of the ear	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0000598	HP:0000598	Abnormality of the ear	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A1 CL E G H	1301	2186	OMIM:618533	DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37			215
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A1 CL E G H	1301	2186	ORPHA:90654	Stickler syndrome type 2			215
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II			215
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A2 CL E G H	1302	2187	OMIM:601868	Deafness, autosomal dominant nonsyndromic sensorineural 13			222
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A2 CL E G H	1302	2187	OMIM:609706	Deafness, autosomal recessive 53			222
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000598	Abnormality of the ear	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III			222
HP:0000598	HP:0000598	Abnormality of the ear	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19			6
HP:0000598	HP:0000598	Abnormality of the ear	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000598	HP:0000598	Abnormality of the ear	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0000598	HP:0000598	Abnormality of the ear	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0000598	HP:0000598	Abnormality of the ear	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0000598	HP:0000598	Abnormality of the ear	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000598	HP:0000598	Abnormality of the ear	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0000598	HP:0000598	Abnormality of the ear	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0000598	HP:0000598	Abnormality of the ear	0	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL2A1 CL E G H	1280	2200	OMIM:609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR			284
HP:0000598	HP:0000598	Abnormality of the ear	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0000598	HP:0000598	Abnormality of the ear	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0000598	HP:0000598	Abnormality of the ear	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0000598	HP:0000598	Abnormality of the ear	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant			161
HP:0000598	HP:0000598	Abnormality of the ear	0	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive			161
HP:0000598	HP:0000598	Abnormality of the ear	0	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive			174
HP:0000598	HP:0000598	Abnormality of the ear	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked			678
HP:0000598	HP:0000598	Abnormality of the ear	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0000598	HP:0000598	Abnormality of the ear	0	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0000598	Abnormality of the ear	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0000598	HP:0000598	Abnormality of the ear	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0000598	HP:0000598	Abnormality of the ear	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0000598	HP:0000598	Abnormality of the ear	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0000598	HP:0000598	Abnormality of the ear	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0000598	HP:0000598	Abnormality of the ear	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0000598	HP:0000598	Abnormality of the ear	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000598	HP:0000598	Abnormality of the ear	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0000598	HP:0000598	Abnormality of the ear	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000598	HP:0000598	Abnormality of the ear	0	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V			110
HP:0000598	HP:0000598	Abnormality of the ear	0	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0000598	HP:0000598	Abnormality of the ear	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0000598	HP:0000598	Abnormality of the ear	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0000598	HP:0000598	Abnormality of the ear	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0000598	HP:0000598	Abnormality of the ear	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0000598	HP:0000598	Abnormality of the ear	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6			39
HP:0000598	HP:0000598	Abnormality of the ear	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0000598	HP:0000598	Abnormality of the ear	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0000598	HP:0000598	Abnormality of the ear	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000598	HP:0000598	Abnormality of the ear	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0000598	HP:0000598	Abnormality of the ear	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000598	HP:0000598	Abnormality of the ear	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0000598	HP:0000598	Abnormality of the ear	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000598	Abnormality of the ear	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0000598	HP:0000598	Abnormality of the ear	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000598	HP:0000598	Abnormality of the ear	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000598	Abnormality of the ear	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000598	HP:0000598	Abnormality of the ear	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0000598	HP:0000598	Abnormality of the ear	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0000598	HP:0000598	Abnormality of the ear	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0000598	HP:0000598	Abnormality of the ear	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2			10
HP:0000598	HP:0000598	Abnormality of the ear	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0000598	HP:0000598	Abnormality of the ear	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000598	HP:0000598	Abnormality of the ear	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0000598	HP:0000598	Abnormality of the ear	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0000598	Abnormality of the ear	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000598	HP:0000598	Abnormality of the ear	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0000598	HP:0000598	Abnormality of the ear	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000598	HP:0000598	Abnormality of the ear	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0000598	HP:0000598	Abnormality of the ear	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000598	HP:0000598	Abnormality of the ear	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0000598	HP:0000598	Abnormality of the ear	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000598	HP:0000598	Abnormality of the ear	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy			46
HP:0000598	HP:0000598	Abnormality of the ear	0	CRYM CL E G H	1428	2418	OMIM:616357	DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40			15
HP:0000598	HP:0000598	Abnormality of the ear	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0000598	HP:0000598	Abnormality of the ear	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0000598	HP:0000598	Abnormality of the ear	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0000598	HP:0000598	Abnormality of the ear	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000598	HP:0000598	Abnormality of the ear	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0000598	HP:0000598	Abnormality of the ear	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy			104
HP:0000598	HP:0000598	Abnormality of the ear	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0000598	HP:0000598	Abnormality of the ear	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000598	HP:0000598	Abnormality of the ear	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000598	HP:0000598	Abnormality of the ear	0	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria			38
HP:0000598	HP:0000598	Abnormality of the ear	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0000598	HP:0000598	Abnormality of the ear	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000598	HP:0000598	Abnormality of the ear	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0000598	HP:0000598	Abnormality of the ear	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0000598	HP:0000598	Abnormality of the ear	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0000598	HP:0000598	Abnormality of the ear	0	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis			51
HP:0000598	HP:0000598	Abnormality of the ear	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0000598	HP:0000598	Abnormality of the ear	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0000598	HP:0000598	Abnormality of the ear	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000598	HP:0000598	Abnormality of the ear	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0000598	HP:0000598	Abnormality of the ear	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0000598	HP:0000598	Abnormality of the ear	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0000598	HP:0000598	Abnormality of the ear	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000598	HP:0000598	Abnormality of the ear	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0000598	HP:0000598	Abnormality of the ear	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0000598	HP:0000598	Abnormality of the ear	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0000598	HP:0000598	Abnormality of the ear	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I			112
HP:0000598	HP:0000598	Abnormality of the ear	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I			73
HP:0000598	HP:0000598	Abnormality of the ear	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0000598	HP:0000598	Abnormality of the ear	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0000598	HP:0000598	Abnormality of the ear	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0000598	HP:0000598	Abnormality of the ear	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37			4
HP:0000598	HP:0000598	Abnormality of the ear	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2			2
HP:0000598	HP:0000598	Abnormality of the ear	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0000598	HP:0000598	Abnormality of the ear	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0000598	HP:0000598	Abnormality of the ear	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0000598	HP:0000598	Abnormality of the ear	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0000598	Abnormality of the ear	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0000598	Abnormality of the ear	0	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			36
HP:0000598	HP:0000598	Abnormality of the ear	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0000598	HP:0000598	Abnormality of the ear	0	DCDC2 CL E G H	51473	18141	OMIM:610212	Deafness, autosomal recessive 66			8
HP:0000598	HP:0000598	Abnormality of the ear	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0000598	HP:0000598	Abnormality of the ear	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0000598	Abnormality of the ear	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency			94
HP:0000598	HP:0000598	Abnormality of the ear	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0000598	HP:0000598	Abnormality of the ear	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000598	Abnormality of the ear	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000598	HP:0000598	Abnormality of the ear	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0000598	HP:0000598	Abnormality of the ear	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0000598	Abnormality of the ear	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0000598	HP:0000598	Abnormality of the ear	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome			57
HP:0000598	HP:0000598	Abnormality of the ear	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000598	HP:0000598	Abnormality of the ear	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000598	HP:0000598	Abnormality of the ear	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0000598	HP:0000598	Abnormality of the ear	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy			263
HP:0000598	HP:0000598	Abnormality of the ear	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0000598	HP:0000598	Abnormality of the ear	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0000598	HP:0000598	Abnormality of the ear	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0000598	HP:0000598	Abnormality of the ear	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000598	HP:0000598	Abnormality of the ear	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0000598	HP:0000598	Abnormality of the ear	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0000598	HP:0000598	Abnormality of the ear	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000598	HP:0000598	Abnormality of the ear	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000598	Abnormality of the ear	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000598	Abnormality of the ear	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0000598	Abnormality of the ear	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000598	HP:0000598	Abnormality of the ear	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000598	Abnormality of the ear	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000598	Abnormality of the ear	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000598	HP:0000598	Abnormality of the ear	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0000598	Abnormality of the ear	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0000598	HP:0000598	Abnormality of the ear	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000598	HP:0000598	Abnormality of the ear	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000598	Abnormality of the ear	0	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64			11
HP:0000598	HP:0000598	Abnormality of the ear	0	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1			118
HP:0000598	HP:0000598	Abnormality of the ear	0	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1			8
HP:0000598	HP:0000598	Abnormality of the ear	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0000598	HP:0000598	Abnormality of the ear	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0000598	HP:0000598	Abnormality of the ear	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0000598	HP:0000598	Abnormality of the ear	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0000598	HP:0000598	Abnormality of the ear	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0000598	HP:0000598	Abnormality of the ear	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0000598	HP:0000598	Abnormality of the ear	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0000598	HP:0000598	Abnormality of the ear	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0000598	HP:0000598	Abnormality of the ear	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0000598	HP:0000598	Abnormality of the ear	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000598	Abnormality of the ear	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000598	Abnormality of the ear	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0000598	HP:0000598	Abnormality of the ear	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0000598	Abnormality of the ear	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0000598	Abnormality of the ear	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0000598	Abnormality of the ear	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0000598	HP:0000598	Abnormality of the ear	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0000598	HP:0000598	Abnormality of the ear	0	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0000598	Abnormality of the ear	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy			1496
HP:0000598	HP:0000598	Abnormality of the ear	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0000598	HP:0000598	Abnormality of the ear	0	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive			48
HP:0000598	HP:0000598	Abnormality of the ear	0	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13			116
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18			62
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37			21
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0000598	HP:0000598	Abnormality of the ear	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0000598	HP:0000598	Abnormality of the ear	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000598	HP:0000598	Abnormality of the ear	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant			145
HP:0000598	HP:0000598	Abnormality of the ear	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0000598	HP:0000598	Abnormality of the ear	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0000598	HP:0000598	Abnormality of the ear	0	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0000598	HP:0000598	Abnormality of the ear	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0000598	HP:0000598	Abnormality of the ear	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0000598	HP:0000598	Abnormality of the ear	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0000598	HP:0000598	Abnormality of the ear	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0000598	HP:0000598	Abnormality of the ear	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0000598	HP:0000598	Abnormality of the ear	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency			217
HP:0000598	HP:0000598	Abnormality of the ear	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive			217
HP:0000598	HP:0000598	Abnormality of the ear	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0000598	HP:0000598	Abnormality of the ear	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy			55
HP:0000598	HP:0000598	Abnormality of the ear	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0000598	HP:0000598	Abnormality of the ear	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000598	HP:0000598	Abnormality of the ear	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0000598	HP:0000598	Abnormality of the ear	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000598	HP:0000598	Abnormality of the ear	0	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000598	HP:0000598	Abnormality of the ear	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0000598	HP:0000598	Abnormality of the ear	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000598	HP:0000598	Abnormality of the ear	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000598	HP:0000598	Abnormality of the ear	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0000598	HP:0000598	Abnormality of the ear	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0000598	HP:0000598	Abnormality of the ear	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0000598	HP:0000598	Abnormality of the ear	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy			358
HP:0000598	HP:0000598	Abnormality of the ear	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy			747
HP:0000598	HP:0000598	Abnormality of the ear	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0000598	HP:0000598	Abnormality of the ear	0	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1			38
HP:0000598	HP:0000598	Abnormality of the ear	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0000598	HP:0000598	Abnormality of the ear	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000598	HP:0000598	Abnormality of the ear	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0000598	HP:0000598	Abnormality of the ear	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0000598	HP:0000598	Abnormality of the ear	0	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia			4
HP:0000598	HP:0000598	Abnormality of the ear	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0000598	HP:0000598	Abnormality of the ear	0	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0000598	HP:0000598	Abnormality of the ear	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000598	HP:0000598	Abnormality of the ear	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0000598	HP:0000598	Abnormality of the ear	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000598	HP:0000598	Abnormality of the ear	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000598	HP:0000598	Abnormality of the ear	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0000598	HP:0000598	Abnormality of the ear	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000598	HP:0000598	Abnormality of the ear	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000598	HP:0000598	Abnormality of the ear	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0000598	HP:0000598	Abnormality of the ear	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0000598	HP:0000598	Abnormality of the ear	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0000598	Abnormality of the ear	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0000598	HP:0000598	Abnormality of the ear	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0000598	HP:0000598	Abnormality of the ear	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0000598	HP:0000598	Abnormality of the ear	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0000598	HP:0000598	Abnormality of the ear	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0000598	HP:0000598	Abnormality of the ear	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0000598	HP:0000598	Abnormality of the ear	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0000598	HP:0000598	Abnormality of the ear	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0000598	HP:0000598	Abnormality of the ear	0	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50			1
HP:0000598	HP:0000598	Abnormality of the ear	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000598	HP:0000598	Abnormality of the ear	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3			6
HP:0000598	HP:0000598	Abnormality of the ear	0	EDN1 CL E G H	1906	3176	OMIM:612798	Question mark ears, isolated			6
HP:0000598	HP:0000598	Abnormality of the ear	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0000598	HP:0000598	Abnormality of the ear	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0000598	HP:0000598	Abnormality of the ear	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0000598	HP:0000598	Abnormality of the ear	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0000598	HP:0000598	Abnormality of the ear	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0000598	Abnormality of the ear	0	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0000598	HP:0000598	Abnormality of the ear	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0000598	HP:0000598	Abnormality of the ear	0	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0000598	HP:0000598	Abnormality of the ear	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0000598	HP:0000598	Abnormality of the ear	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0000598	HP:0000598	Abnormality of the ear	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0000598	HP:0000598	Abnormality of the ear	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0000598	HP:0000598	Abnormality of the ear	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0000598	HP:0000598	Abnormality of the ear	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0000598	HP:0000598	Abnormality of the ear	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0000598	Abnormality of the ear	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0000598	Abnormality of the ear	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0000598	HP:0000598	Abnormality of the ear	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0000598	HP:0000598	Abnormality of the ear	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0000598	HP:0000598	Abnormality of the ear	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0000598	HP:0000598	Abnormality of the ear	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000598	HP:0000598	Abnormality of the ear	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0000598	HP:0000598	Abnormality of the ear	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0000598	Abnormality of the ear	0	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0000598	HP:0000598	Abnormality of the ear	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0000598	HP:0000598	Abnormality of the ear	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	ELMOD3 CL E G H	84173	26158	OMIM:619500	DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0000598	HP:0000598	Abnormality of the ear	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0000598	Abnormality of the ear	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0000598	Abnormality of the ear	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000598	HP:0000598	Abnormality of the ear	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0000598	HP:0000598	Abnormality of the ear	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0000598	Abnormality of the ear	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000598	HP:0000598	Abnormality of the ear	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000598	HP:0000598	Abnormality of the ear	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0000598	HP:0000598	Abnormality of the ear	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000598	HP:0000598	Abnormality of the ear	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0000598	HP:0000598	Abnormality of the ear	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0000598	HP:0000598	Abnormality of the ear	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0000598	HP:0000598	Abnormality of the ear	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000598	HP:0000598	Abnormality of the ear	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia			43
HP:0000598	HP:0000598	Abnormality of the ear	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000598	HP:0000598	Abnormality of the ear	0	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0000598	Abnormality of the ear	0	EPS8 CL E G H	2059	3420	OMIM:615974	Deafness, autosomal recessive 102			2
HP:0000598	HP:0000598	Abnormality of the ear	0	EPS8L2 CL E G H	64787	21296	OMIM:617637	DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106			2
HP:0000598	HP:0000598	Abnormality of the ear	0	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0000598	HP:0000598	Abnormality of the ear	0	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2			77
HP:0000598	HP:0000598	Abnormality of the ear	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0000598	HP:0000598	Abnormality of the ear	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000598	HP:0000598	Abnormality of the ear	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000598	HP:0000598	Abnormality of the ear	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0000598	HP:0000598	Abnormality of the ear	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0000598	HP:0000598	Abnormality of the ear	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000598	HP:0000598	Abnormality of the ear	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0000598	HP:0000598	Abnormality of the ear	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0000598	HP:0000598	Abnormality of the ear	0	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement			33
HP:0000598	HP:0000598	Abnormality of the ear	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000598	HP:0000598	Abnormality of the ear	0	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000598	HP:0000598	Abnormality of the ear	0	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0000598	Abnormality of the ear	0	ESRRB CL E G H	2103	3473	OMIM:608565	DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35			78
HP:0000598	HP:0000598	Abnormality of the ear	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0000598	HP:0000598	Abnormality of the ear	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0000598	HP:0000598	Abnormality of the ear	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0000598	HP:0000598	Abnormality of the ear	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0000598	HP:0000598	Abnormality of the ear	0	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0000598	HP:0000598	Abnormality of the ear	0	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0000598	HP:0000598	Abnormality of the ear	0	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0000598	HP:0000598	Abnormality of the ear	0	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0000598	HP:0000598	Abnormality of the ear	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000598	HP:0000598	Abnormality of the ear	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0000598	HP:0000598	Abnormality of the ear	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000598	HP:0000598	Abnormality of the ear	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000598	HP:0000598	Abnormality of the ear	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0000598	HP:0000598	Abnormality of the ear	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000598	HP:0000598	Abnormality of the ear	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000598	HP:0000598	Abnormality of the ear	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0000598	HP:0000598	Abnormality of the ear	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0000598	Abnormality of the ear	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0000598	HP:0000598	Abnormality of the ear	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000598	Abnormality of the ear	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000598	Abnormality of the ear	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0000598	HP:0000598	Abnormality of the ear	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000598	Abnormality of the ear	0	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0000598	HP:0000598	Abnormality of the ear	0	EYA4 CL E G H	2070	3522	OMIM:601316	Deafness, autosomal dominant nonsyndromic sensorineural 10			111
HP:0000598	HP:0000598	Abnormality of the ear	0	EYA4 CL E G H	2070	3522	ORPHA:217622	Sensorineural deafness with dilated cardiomyopathy			111
HP:0000598	HP:0000598	Abnormality of the ear	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000598	HP:0000598	Abnormality of the ear	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0000598	HP:0000598	Abnormality of the ear	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0000598	HP:0000598	Abnormality of the ear	0	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000598	HP:0000598	Abnormality of the ear	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000598	Abnormality of the ear	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000598	HP:0000598	Abnormality of the ear	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0000598	HP:0000598	Abnormality of the ear	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0000598	HP:0000598	Abnormality of the ear	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0000598	HP:0000598	Abnormality of the ear	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0000598	HP:0000598	Abnormality of the ear	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0000598	HP:0000598	Abnormality of the ear	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0000598	HP:0000598	Abnormality of the ear	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0000598	HP:0000598	Abnormality of the ear	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0000598	HP:0000598	Abnormality of the ear	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0000598	HP:0000598	Abnormality of the ear	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0000598	HP:0000598	Abnormality of the ear	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000598	HP:0000598	Abnormality of the ear	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0000598	HP:0000598	Abnormality of the ear	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0000598	Abnormality of the ear	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0000598	HP:0000598	Abnormality of the ear	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0000598	HP:0000598	Abnormality of the ear	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000598	HP:0000598	Abnormality of the ear	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0000598	HP:0000598	Abnormality of the ear	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000598	HP:0000598	Abnormality of the ear	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0000598	HP:0000598	Abnormality of the ear	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0000598	HP:0000598	Abnormality of the ear	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0000598	HP:0000598	Abnormality of the ear	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000598	HP:0000598	Abnormality of the ear	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000598	HP:0000598	Abnormality of the ear	0	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation			37
HP:0000598	HP:0000598	Abnormality of the ear	0	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0000598	Abnormality of the ear	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20			4
HP:0000598	HP:0000598	Abnormality of the ear	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000598	HP:0000598	Abnormality of the ear	0	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy
HP:0000598	HP:0000598	Abnormality of the ear	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0000598	HP:0000598	Abnormality of the ear	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia			17
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0000598	HP:0000598	Abnormality of the ear	0	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome			75
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome			172
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1			172
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0000598	HP:0000598	Abnormality of the ear	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000598	HP:0000598	Abnormality of the ear	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0000598	HP:0000598	Abnormality of the ear	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy			36
HP:0000598	HP:0000598	Abnormality of the ear	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0000598	HP:0000598	Abnormality of the ear	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0000598	HP:0000598	Abnormality of the ear	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0000598	Abnormality of the ear	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0000598	HP:0000598	Abnormality of the ear	0	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0000598	HP:0000598	Abnormality of the ear	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0000598	HP:0000598	Abnormality of the ear	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0000598	HP:0000598	Abnormality of the ear	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000598	HP:0000598	Abnormality of the ear	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0000598	HP:0000598	Abnormality of the ear	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy			184
HP:0000598	HP:0000598	Abnormality of the ear	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000598	HP:0000598	Abnormality of the ear	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0000598	HP:0000598	Abnormality of the ear	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0000598	HP:0000598	Abnormality of the ear	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0000598	HP:0000598	Abnormality of the ear	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked			493
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1			493
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0000598	HP:0000598	Abnormality of the ear	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0000598	HP:0000598	Abnormality of the ear	0	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia			4
HP:0000598	HP:0000598	Abnormality of the ear	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0000598	HP:0000598	Abnormality of the ear	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0000598	HP:0000598	Abnormality of the ear	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0000598	HP:0000598	Abnormality of the ear	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0000598	HP:0000598	Abnormality of the ear	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000598	HP:0000598	Abnormality of the ear	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome			63
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct			33
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000598	HP:0000598	Abnormality of the ear	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0000598	HP:0000598	Abnormality of the ear	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000598	HP:0000598	Abnormality of the ear	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000598	HP:0000598	Abnormality of the ear	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0000598	HP:0000598	Abnormality of the ear	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000598	HP:0000598	Abnormality of the ear	0	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0000598	HP:0000598	Abnormality of the ear	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0000598	HP:0000598	Abnormality of the ear	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0000598	HP:0000598	Abnormality of the ear	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0000598	HP:0000598	Abnormality of the ear	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000598	HP:0000598	Abnormality of the ear	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0000598	HP:0000598	Abnormality of the ear	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0000598	HP:0000598	Abnormality of the ear	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0000598	HP:0000598	Abnormality of the ear	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0000598	HP:0000598	Abnormality of the ear	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0000598	HP:0000598	Abnormality of the ear	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0000598	HP:0000598	Abnormality of the ear	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0000598	HP:0000598	Abnormality of the ear	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0000598	HP:0000598	Abnormality of the ear	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0000598	HP:0000598	Abnormality of the ear	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0000598	HP:0000598	Abnormality of the ear	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0000598	HP:0000598	Abnormality of the ear	0	GAB1 CL E G H	2549	4066	OMIM:605428	Deafness, autosomal recessive 26			1
HP:0000598	HP:0000598	Abnormality of the ear	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0000598	Abnormality of the ear	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000598	HP:0000598	Abnormality of the ear	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0000598	HP:0000598	Abnormality of the ear	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0000598	HP:0000598	Abnormality of the ear	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0000598	HP:0000598	Abnormality of the ear	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0000598	HP:0000598	Abnormality of the ear	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0000598	HP:0000598	Abnormality of the ear	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0000598	Abnormality of the ear	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0000598	HP:0000598	Abnormality of the ear	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0000598	HP:0000598	Abnormality of the ear	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0000598	HP:0000598	Abnormality of the ear	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0000598	HP:0000598	Abnormality of the ear	0	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41			1
HP:0000598	HP:0000598	Abnormality of the ear	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0000598	HP:0000598	Abnormality of the ear	0	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0000598	HP:0000598	Abnormality of the ear	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0000598	HP:0000598	Abnormality of the ear	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0000598	HP:0000598	Abnormality of the ear	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000598	HP:0000598	Abnormality of the ear	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0000598	HP:0000598	Abnormality of the ear	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000598	HP:0000598	Abnormality of the ear	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0000598	HP:0000598	Abnormality of the ear	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0000598	HP:0000598	Abnormality of the ear	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy			35
HP:0000598	HP:0000598	Abnormality of the ear	0	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0000598	HP:0000598	Abnormality of the ear	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0000598	HP:0000598	Abnormality of the ear	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000598	HP:0000598	Abnormality of the ear	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000598	HP:0000598	Abnormality of the ear	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0000598	HP:0000598	Abnormality of the ear	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0000598	HP:0000598	Abnormality of the ear	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0000598	HP:0000598	Abnormality of the ear	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0000598	HP:0000598	Abnormality of the ear	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0000598	HP:0000598	Abnormality of the ear	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0000598	HP:0000598	Abnormality of the ear	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0000598	HP:0000598	Abnormality of the ear	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0000598	HP:0000598	Abnormality of the ear	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000598	HP:0000598	Abnormality of the ear	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome			52
HP:0000598	HP:0000598	Abnormality of the ear	0	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0000598	HP:0000598	Abnormality of the ear	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0000598	HP:0000598	Abnormality of the ear	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0000598	Abnormality of the ear	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0000598	HP:0000598	Abnormality of the ear	0	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4			64
HP:0000598	HP:0000598	Abnormality of the ear	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0000598	HP:0000598	Abnormality of the ear	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0000598	HP:0000598	Abnormality of the ear	0	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay			14
HP:0000598	HP:0000598	Abnormality of the ear	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0000598	HP:0000598	Abnormality of the ear	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000598	HP:0000598	Abnormality of the ear	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0000598	Abnormality of the ear	0	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15			40
HP:0000598	HP:0000598	Abnormality of the ear	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0000598	HP:0000598	Abnormality of the ear	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0000598	HP:0000598	Abnormality of the ear	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0000598	HP:0000598	Abnormality of the ear	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0000598	HP:0000598	Abnormality of the ear	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0000598	HP:0000598	Abnormality of the ear	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040281 - Very frequent		68
HP:0000598	HP:0000598	Abnormality of the ear	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000598	HP:0000598	Abnormality of the ear	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0000598	Abnormality of the ear	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1			107
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB2 CL E G H	2706	4284	OMIM:601544	Deafness, autosomal dominant nonsyndromic sensorineural 3			199
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A			199
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB2 CL E G H	2706	4284	OMIM:148350	Keratoderma, palmoplantar, with deafness			199
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness			199
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome			199
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB3 CL E G H	2707	4285	OMIM:612644	Deafness, autosomal dominant 2B			74
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A			74
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB6 CL E G H	10804	4288	OMIM:612643	Deafness, autosomal dominant 3B			56
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A			56
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB6 CL E G H	10804	4288	OMIM:612645	Deafness, autosomal recessive 1B			56
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0000598	HP:0000598	Abnormality of the ear	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000598	HP:0000598	Abnormality of the ear	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0000598	HP:0000598	Abnormality of the ear	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0000598	HP:0000598	Abnormality of the ear	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0000598	HP:0000598	Abnormality of the ear	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0000598	HP:0000598	Abnormality of the ear	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000598	HP:0000598	Abnormality of the ear	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0000598	HP:0000598	Abnormality of the ear	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0000598	HP:0000598	Abnormality of the ear	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0000598	HP:0000598	Abnormality of the ear	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0000598	HP:0000598	Abnormality of the ear	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000598	HP:0000598	Abnormality of the ear	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0000598	HP:0000598	Abnormality of the ear	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0000598	HP:0000598	Abnormality of the ear	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0000598	HP:0000598	Abnormality of the ear	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0000598	HP:0000598	Abnormality of the ear	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0000598	HP:0000598	Abnormality of the ear	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000598	HP:0000598	Abnormality of the ear	0	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV			270
HP:0000598	HP:0000598	Abnormality of the ear	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0000598	HP:0000598	Abnormality of the ear	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000598	HP:0000598	Abnormality of the ear	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000598	HP:0000598	Abnormality of the ear	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0000598	HP:0000598	Abnormality of the ear	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0000598	HP:0000598	Abnormality of the ear	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0000598	HP:0000598	Abnormality of the ear	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0000598	Abnormality of the ear	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000598	HP:0000598	Abnormality of the ear	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0000598	HP:0000598	Abnormality of the ear	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0000598	HP:0000598	Abnormality of the ear	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000598	HP:0000598	Abnormality of the ear	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0000598	HP:0000598	Abnormality of the ear	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0000598	HP:0000598	Abnormality of the ear	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0000598	HP:0000598	Abnormality of the ear	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000598	HP:0000598	Abnormality of the ear	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0000598	Abnormality of the ear	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000598	HP:0000598	Abnormality of the ear	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0000598	HP:0000598	Abnormality of the ear	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0000598	HP:0000598	Abnormality of the ear	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0000598	HP:0000598	Abnormality of the ear	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0000598	HP:0000598	Abnormality of the ear	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0000598	HP:0000598	Abnormality of the ear	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0000598	HP:0000598	Abnormality of the ear	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000598	HP:0000598	Abnormality of the ear	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000598	HP:0000598	Abnormality of the ear	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0000598	HP:0000598	Abnormality of the ear	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0000598	HP:0000598	Abnormality of the ear	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0000598	HP:0000598	Abnormality of the ear	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000598	HP:0000598	Abnormality of the ear	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000598	HP:0000598	Abnormality of the ear	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0000598	HP:0000598	Abnormality of the ear	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0000598	HP:0000598	Abnormality of the ear	0	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7
HP:0000598	HP:0000598	Abnormality of the ear	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0000598	HP:0000598	Abnormality of the ear	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0000598	HP:0000598	Abnormality of the ear	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0000598	HP:0000598	Abnormality of the ear	0	GRAP CL E G H	10750	4562	OMIM:618456	Deafness, autosomal recessive 114
HP:0000598	HP:0000598	Abnormality of the ear	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000598	HP:0000598	Abnormality of the ear	0	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0000598	Abnormality of the ear	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0000598	HP:0000598	Abnormality of the ear	0	GRHL2 CL E G H	79977	2799	OMIM:608641	Deafness, autosomal dominant nonsyndromic sensorineural 28			33
HP:0000598	HP:0000598	Abnormality of the ear	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0000598	HP:0000598	Abnormality of the ear	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0000598	HP:0000598	Abnormality of the ear	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000598	HP:0000598	Abnormality of the ear	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000598	HP:0000598	Abnormality of the ear	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000598	HP:0000598	Abnormality of the ear	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0000598	HP:0000598	Abnormality of the ear	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0000598	HP:0000598	Abnormality of the ear	0	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25			36
HP:0000598	HP:0000598	Abnormality of the ear	0	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101			3
HP:0000598	HP:0000598	Abnormality of the ear	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0000598	HP:0000598	Abnormality of the ear	0	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5			87
HP:0000598	HP:0000598	Abnormality of the ear	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0000598	HP:0000598	Abnormality of the ear	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0000598	HP:0000598	Abnormality of the ear	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000598	HP:0000598	Abnormality of the ear	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000598	HP:0000598	Abnormality of the ear	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000598	Abnormality of the ear	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0000598	HP:0000598	Abnormality of the ear	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000598	HP:0000598	Abnormality of the ear	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0000598	HP:0000598	Abnormality of the ear	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000598	HP:0000598	Abnormality of the ear	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000598	HP:0000598	Abnormality of the ear	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0000598	HP:0000598	Abnormality of the ear	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0000598	HP:0000598	Abnormality of the ear	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0000598	HP:0000598	Abnormality of the ear	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000598	HP:0000598	Abnormality of the ear	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000598	HP:0000598	Abnormality of the ear	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000598	HP:0000598	Abnormality of the ear	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0000598	Abnormality of the ear	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000598	HP:0000598	Abnormality of the ear	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0000598	HP:0000598	Abnormality of the ear	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0000598	HP:0000598	Abnormality of the ear	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0000598	HP:0000598	Abnormality of the ear	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy			2
HP:0000598	HP:0000598	Abnormality of the ear	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000598	Abnormality of the ear	0	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0000598	HP:0000598	Abnormality of the ear	0	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2			29
HP:0000598	HP:0000598	Abnormality of the ear	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0000598	HP:0000598	Abnormality of the ear	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0000598	HP:0000598	Abnormality of the ear	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0000598	HP:0000598	Abnormality of the ear	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		11
HP:0000598	HP:0000598	Abnormality of the ear	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0000598	HP:0000598	Abnormality of the ear	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000598	HP:0000598	Abnormality of the ear	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0000598	HP:0000598	Abnormality of the ear	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0000598	HP:0000598	Abnormality of the ear	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0000598	Abnormality of the ear	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0000598	HP:0000598	Abnormality of the ear	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0000598	HP:0000598	Abnormality of the ear	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000598	HP:0000598	Abnormality of the ear	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000598	HP:0000598	Abnormality of the ear	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000598	HP:0000598	Abnormality of the ear	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0000598	HP:0000598	Abnormality of the ear	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0000598	HP:0000598	Abnormality of the ear	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0000598	HP:0000598	Abnormality of the ear	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0000598	HP:0000598	Abnormality of the ear	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0000598	HP:0000598	Abnormality of the ear	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0000598	HP:0000598	Abnormality of the ear	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0000598	HP:0000598	Abnormality of the ear	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0000598	HP:0000598	Abnormality of the ear	0	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39			39
HP:0000598	HP:0000598	Abnormality of the ear	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0000598	HP:0000598	Abnormality of the ear	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000598	HP:0000598	Abnormality of the ear	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000598	HP:0000598	Abnormality of the ear	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000598	HP:0000598	Abnormality of the ear	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0000598	HP:0000598	Abnormality of the ear	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0000598	HP:0000598	Abnormality of the ear	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0000598	Abnormality of the ear	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0000598	HP:0000598	Abnormality of the ear	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0000598	HP:0000598	Abnormality of the ear	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0000598	HP:0000598	Abnormality of the ear	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0000598	HP:0000598	Abnormality of the ear	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0000598	HP:0000598	Abnormality of the ear	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0000598	HP:0000598	Abnormality of the ear	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0000598	HP:0000598	Abnormality of the ear	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000598	HP:0000598	Abnormality of the ear	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000598	HP:0000598	Abnormality of the ear	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000598	HP:0000598	Abnormality of the ear	0	HOMER2 CL E G H	9455	17513	OMIM:616707	DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68			1
HP:0000598	HP:0000598	Abnormality of the ear	0	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000598	HP:0000598	Abnormality of the ear	0	HOXA11 CL E G H	3207	5101	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia			3
HP:0000598	HP:0000598	Abnormality of the ear	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0000598	HP:0000598	Abnormality of the ear	0	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000598	Abnormality of the ear	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000598	HP:0000598	Abnormality of the ear	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0000598	HP:0000598	Abnormality of the ear	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0000598	HP:0000598	Abnormality of the ear	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0000598	HP:0000598	Abnormality of the ear	0	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000598	HP:0000598	Abnormality of the ear	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0000598	Abnormality of the ear	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0000598	HP:0000598	Abnormality of the ear	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0000598	HP:0000598	Abnormality of the ear	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0000598	HP:0000598	Abnormality of the ear	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000598	HP:0000598	Abnormality of the ear	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0000598	HP:0000598	Abnormality of the ear	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13			46
HP:0000598	HP:0000598	Abnormality of the ear	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0000598	Abnormality of the ear	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0000598	HP:0000598	Abnormality of the ear	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0000598	HP:0000598	Abnormality of the ear	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000598	HP:0000598	Abnormality of the ear	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0000598	HP:0000598	Abnormality of the ear	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0000598	HP:0000598	Abnormality of the ear	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000598	HP:0000598	Abnormality of the ear	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0000598	HP:0000598	Abnormality of the ear	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5			21
HP:0000598	HP:0000598	Abnormality of the ear	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0000598	Abnormality of the ear	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0000598	HP:0000598	Abnormality of the ear	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0000598	HP:0000598	Abnormality of the ear	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0000598	HP:0000598	Abnormality of the ear	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000598	HP:0000598	Abnormality of the ear	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000598	HP:0000598	Abnormality of the ear	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0000598	HP:0000598	Abnormality of the ear	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0000598	HP:0000598	Abnormality of the ear	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000598	HP:0000598	Abnormality of the ear	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0000598	HP:0000598	Abnormality of the ear	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1			32
HP:0000598	HP:0000598	Abnormality of the ear	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0000598	HP:0000598	Abnormality of the ear	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000598	HP:0000598	Abnormality of the ear	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000598	Abnormality of the ear	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0000598	Abnormality of the ear	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000598	HP:0000598	Abnormality of the ear	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000598	HP:0000598	Abnormality of the ear	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0000598	HP:0000598	Abnormality of the ear	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0000598	HP:0000598	Abnormality of the ear	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0000598	HP:0000598	Abnormality of the ear	0	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0000598	HP:0000598	Abnormality of the ear	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome			115
HP:0000598	HP:0000598	Abnormality of the ear	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0000598	HP:0000598	Abnormality of the ear	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0000598	HP:0000598	Abnormality of the ear	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0000598	HP:0000598	Abnormality of the ear	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18			1
HP:0000598	HP:0000598	Abnormality of the ear	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0000598	HP:0000598	Abnormality of the ear	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0000598	HP:0000598	Abnormality of the ear	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000598	HP:0000598	Abnormality of the ear	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000598	HP:0000598	Abnormality of the ear	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0000598	HP:0000598	Abnormality of the ear	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000598	Abnormality of the ear	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0000598	HP:0000598	Abnormality of the ear	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0000598	HP:0000598	Abnormality of the ear	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000598	Abnormality of the ear	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000598	Abnormality of the ear	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0000598	HP:0000598	Abnormality of the ear	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0000598	HP:0000598	Abnormality of the ear	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000598	HP:0000598	Abnormality of the ear	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0000598	HP:0000598	Abnormality of the ear	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0000598	HP:0000598	Abnormality of the ear	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0000598	HP:0000598	Abnormality of the ear	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0000598	HP:0000598	Abnormality of the ear	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive			7
HP:0000598	HP:0000598	Abnormality of the ear	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0000598	HP:0000598	Abnormality of the ear	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0000598	HP:0000598	Abnormality of the ear	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive			3
HP:0000598	HP:0000598	Abnormality of the ear	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0000598	HP:0000598	Abnormality of the ear	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A			4
HP:0000598	HP:0000598	Abnormality of the ear	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0000598	HP:0000598	Abnormality of the ear	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0000598	HP:0000598	Abnormality of the ear	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0000598	Abnormality of the ear	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000598	HP:0000598	Abnormality of the ear	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000598	HP:0000598	Abnormality of the ear	0	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51			196
HP:0000598	HP:0000598	Abnormality of the ear	0	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia			9
HP:0000598	HP:0000598	Abnormality of the ear	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0000598	HP:0000598	Abnormality of the ear	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0000598	HP:0000598	Abnormality of the ear	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0000598	HP:0000598	Abnormality of the ear	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0000598	HP:0000598	Abnormality of the ear	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked			48
HP:0000598	HP:0000598	Abnormality of the ear	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5			1
HP:0000598	HP:0000598	Abnormality of the ear	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000598	HP:0000598	Abnormality of the ear	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000598	HP:0000598	Abnormality of the ear	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive			94
HP:0000598	HP:0000598	Abnormality of the ear	0	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42			42
HP:0000598	HP:0000598	Abnormality of the ear	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0000598	HP:0000598	Abnormality of the ear	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000598	HP:0000598	Abnormality of the ear	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0000598	HP:0000598	Abnormality of the ear	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0000598	Abnormality of the ear	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000598	HP:0000598	Abnormality of the ear	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0000598	HP:0000598	Abnormality of the ear	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000598	HP:0000598	Abnormality of the ear	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000598	HP:0000598	Abnormality of the ear	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000598	HP:0000598	Abnormality of the ear	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0000598	HP:0000598	Abnormality of the ear	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0000598	HP:0000598	Abnormality of the ear	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0000598	HP:0000598	Abnormality of the ear	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0000598	HP:0000598	Abnormality of the ear	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0000598	HP:0000598	Abnormality of the ear	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000598	HP:0000598	Abnormality of the ear	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000598	HP:0000598	Abnormality of the ear	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000598	HP:0000598	Abnormality of the ear	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0000598	HP:0000598	Abnormality of the ear	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0000598	HP:0000598	Abnormality of the ear	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000598	HP:0000598	Abnormality of the ear	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0000598	HP:0000598	Abnormality of the ear	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0000598	HP:0000598	Abnormality of the ear	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0000598	HP:0000598	Abnormality of the ear	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0000598	HP:0000598	Abnormality of the ear	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0000598	HP:0000598	Abnormality of the ear	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000598	HP:0000598	Abnormality of the ear	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0000598	HP:0000598	Abnormality of the ear	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0000598	HP:0000598	Abnormality of the ear	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0000598	HP:0000598	Abnormality of the ear	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0000598	HP:0000598	Abnormality of the ear	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0000598	HP:0000598	Abnormality of the ear	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0000598	HP:0000598	Abnormality of the ear	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1			4
HP:0000598	HP:0000598	Abnormality of the ear	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0000598	HP:0000598	Abnormality of the ear	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0000598	HP:0000598	Abnormality of the ear	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish			3
HP:0000598	HP:0000598	Abnormality of the ear	0	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			177
HP:0000598	HP:0000598	Abnormality of the ear	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0000598	HP:0000598	Abnormality of the ear	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000598	HP:0000598	Abnormality of the ear	0	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0000598	HP:0000598	Abnormality of the ear	0	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive			8
HP:0000598	HP:0000598	Abnormality of the ear	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0000598	HP:0000598	Abnormality of the ear	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0000598	HP:0000598	Abnormality of the ear	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0000598	HP:0000598	Abnormality of the ear	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type			140
HP:0000598	HP:0000598	Abnormality of the ear	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0000598	HP:0000598	Abnormality of the ear	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0000598	HP:0000598	Abnormality of the ear	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0000598	HP:0000598	Abnormality of the ear	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0000598	HP:0000598	Abnormality of the ear	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000598	HP:0000598	Abnormality of the ear	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0000598	HP:0000598	Abnormality of the ear	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0000598	HP:0000598	Abnormality of the ear	0	KARS1 CL E G H	3735	6215	OMIM:613916	Deafness, autosomal recessive 89
HP:0000598	HP:0000598	Abnormality of the ear	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000598	HP:0000598	Abnormality of the ear	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000598	HP:0000598	Abnormality of the ear	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000598	HP:0000598	Abnormality of the ear	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0000598	HP:0000598	Abnormality of the ear	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0000598	HP:0000598	Abnormality of the ear	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0000598	HP:0000598	Abnormality of the ear	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant			141
HP:0000598	HP:0000598	Abnormality of the ear	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000598	HP:0000598	Abnormality of the ear	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0000598	HP:0000598	Abnormality of the ear	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0000598	HP:0000598	Abnormality of the ear	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1			145
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13			17
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2			148
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct			121
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1			730
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNQ4 CL E G H	9132	6298	OMIM:600101	Deafness, autosomal dominant nonsyndromic sensorineural 2			76
HP:0000598	HP:0000598	Abnormality of the ear	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000598	HP:0000598	Abnormality of the ear	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000598	HP:0000598	Abnormality of the ear	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0000598	HP:0000598	Abnormality of the ear	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000598	HP:0000598	Abnormality of the ear	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0000598	HP:0000598	Abnormality of the ear	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000598	HP:0000598	Abnormality of the ear	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000598	HP:0000598	Abnormality of the ear	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0000598	Abnormality of the ear	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0000598	HP:0000598	Abnormality of the ear	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0000598	HP:0000598	Abnormality of the ear	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0000598	HP:0000598	Abnormality of the ear	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000598	HP:0000598	Abnormality of the ear	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0000598	HP:0000598	Abnormality of the ear	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000598	HP:0000598	Abnormality of the ear	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000598	HP:0000598	Abnormality of the ear	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0000598	HP:0000598	Abnormality of the ear	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0000598	HP:0000598	Abnormality of the ear	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000598	HP:0000598	Abnormality of the ear	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0000598	Abnormality of the ear	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0000598	HP:0000598	Abnormality of the ear	0	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait	.		327
HP:0000598	HP:0000598	Abnormality of the ear	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0000598	HP:0000598	Abnormality of the ear	0	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000598	HP:0000598	Abnormality of the ear	0	KITLG CL E G H	4254	6343	OMIM:616697	DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69			9
HP:0000598	HP:0000598	Abnormality of the ear	0	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0000598	HP:0000598	Abnormality of the ear	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000598	Abnormality of the ear	0	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0000598	HP:0000598	Abnormality of the ear	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0000598	HP:0000598	Abnormality of the ear	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0000598	HP:0000598	Abnormality of the ear	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000598	HP:0000598	Abnormality of the ear	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000598	HP:0000598	Abnormality of the ear	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0000598	HP:0000598	Abnormality of the ear	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0000598	HP:0000598	Abnormality of the ear	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000598	HP:0000598	Abnormality of the ear	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0000598	HP:0000598	Abnormality of the ear	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000598	HP:0000598	Abnormality of the ear	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000598	HP:0000598	Abnormality of the ear	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0000598	HP:0000598	Abnormality of the ear	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0000598	HP:0000598	Abnormality of the ear	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000598	HP:0000598	Abnormality of the ear	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0000598	HP:0000598	Abnormality of the ear	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0000598	Abnormality of the ear	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000598	HP:0000598	Abnormality of the ear	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent		196
HP:0000598	HP:0000598	Abnormality of the ear	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0000598	HP:0000598	Abnormality of the ear	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0000598	HP:0000598	Abnormality of the ear	0	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D			173
HP:0000598	HP:0000598	Abnormality of the ear	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0000598	HP:0000598	Abnormality of the ear	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0000598	HP:0000598	Abnormality of the ear	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0000598	HP:0000598	Abnormality of the ear	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0000598	HP:0000598	Abnormality of the ear	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0000598	HP:0000598	Abnormality of the ear	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy			279
HP:0000598	HP:0000598	Abnormality of the ear	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0000598	HP:0000598	Abnormality of the ear	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000598	HP:0000598	Abnormality of the ear	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0000598	HP:0000598	Abnormality of the ear	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0000598	HP:0000598	Abnormality of the ear	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0000598	HP:0000598	Abnormality of the ear	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0000598	HP:0000598	Abnormality of the ear	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000598	HP:0000598	Abnormality of the ear	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0000598	HP:0000598	Abnormality of the ear	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0000598	HP:0000598	Abnormality of the ear	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0000598	HP:0000598	Abnormality of the ear	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy			286
HP:0000598	HP:0000598	Abnormality of the ear	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0000598	HP:0000598	Abnormality of the ear	0	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0000598	Abnormality of the ear	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0000598	HP:0000598	Abnormality of the ear	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0000598	HP:0000598	Abnormality of the ear	0	LHFPL5 CL E G H	222662	21253	OMIM:610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67			93
HP:0000598	HP:0000598	Abnormality of the ear	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism			51
HP:0000598	HP:0000598	Abnormality of the ear	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0000598	HP:0000598	Abnormality of the ear	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0000598	HP:0000598	Abnormality of the ear	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0000598	HP:0000598	Abnormality of the ear	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0000598	HP:0000598	Abnormality of the ear	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0000598	HP:0000598	Abnormality of the ear	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0000598	HP:0000598	Abnormality of the ear	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000598	HP:0000598	Abnormality of the ear	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0000598	HP:0000598	Abnormality of the ear	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0000598	HP:0000598	Abnormality of the ear	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0000598	HP:0000598	Abnormality of the ear	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000598	HP:0000598	Abnormality of the ear	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy			645
HP:0000598	HP:0000598	Abnormality of the ear	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0000598	Abnormality of the ear	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0000598	HP:0000598	Abnormality of the ear	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0000598	HP:0000598	Abnormality of the ear	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0000598	HP:0000598	Abnormality of the ear	0	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000598	HP:0000598	Abnormality of the ear	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0000598	HP:0000598	Abnormality of the ear	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0000598	HP:0000598	Abnormality of the ear	0	LMX1A CL E G H	4009	6653	OMIM:601412	Deafness, autosomal dominant nonsyndromic sensorineural 7
HP:0000598	HP:0000598	Abnormality of the ear	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0000598	HP:0000598	Abnormality of the ear	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0000598	HP:0000598	Abnormality of the ear	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	LOXHD1 CL E G H	125336	26521	OMIM:613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77			278
HP:0000598	HP:0000598	Abnormality of the ear	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0000598	HP:0000598	Abnormality of the ear	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000598	HP:0000598	Abnormality of the ear	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0000598	HP:0000598	Abnormality of the ear	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000598	HP:0000598	Abnormality of the ear	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000598	HP:0000598	Abnormality of the ear	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0000598	Abnormality of the ear	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0000598	HP:0000598	Abnormality of the ear	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0000598	HP:0000598	Abnormality of the ear	0	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2			124
HP:0000598	HP:0000598	Abnormality of the ear	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0000598	HP:0000598	Abnormality of the ear	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0000598	HP:0000598	Abnormality of the ear	0	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata			125
HP:0000598	HP:0000598	Abnormality of the ear	0	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal			125
HP:0000598	HP:0000598	Abnormality of the ear	0	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0000598	HP:0000598	Abnormality of the ear	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome			125
HP:0000598	HP:0000598	Abnormality of the ear	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000598	HP:0000598	Abnormality of the ear	0	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0000598	HP:0000598	Abnormality of the ear	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant			3
HP:0000598	HP:0000598	Abnormality of the ear	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0000598	HP:0000598	Abnormality of the ear	0	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63			78
HP:0000598	HP:0000598	Abnormality of the ear	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000598	HP:0000598	Abnormality of the ear	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0000598	Abnormality of the ear	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0000598	HP:0000598	Abnormality of the ear	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0000598	HP:0000598	Abnormality of the ear	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000598	HP:0000598	Abnormality of the ear	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0000598	HP:0000598	Abnormality of the ear	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000598	HP:0000598	Abnormality of the ear	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0000598	Abnormality of the ear	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000598	HP:0000598	Abnormality of the ear	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000598	HP:0000598	Abnormality of the ear	0	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness			63
HP:0000598	HP:0000598	Abnormality of the ear	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0000598	HP:0000598	Abnormality of the ear	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN			17
HP:0000598	HP:0000598	Abnormality of the ear	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000598	HP:0000598	Abnormality of the ear	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0000598	HP:0000598	Abnormality of the ear	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000598	HP:0000598	Abnormality of the ear	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0000598	HP:0000598	Abnormality of the ear	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0000598	HP:0000598	Abnormality of the ear	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0000598	HP:0000598	Abnormality of the ear	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0000598	Abnormality of the ear	0	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis			55
HP:0000598	HP:0000598	Abnormality of the ear	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL			55
HP:0000598	HP:0000598	Abnormality of the ear	0	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000598	HP:0000598	Abnormality of the ear	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0000598	Abnormality of the ear	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000598	HP:0000598	Abnormality of the ear	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0000598	HP:0000598	Abnormality of the ear	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000598	HP:0000598	Abnormality of the ear	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0000598	HP:0000598	Abnormality of the ear	0	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly			2
HP:0000598	HP:0000598	Abnormality of the ear	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000598	HP:0000598	Abnormality of the ear	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0000598	HP:0000598	Abnormality of the ear	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000598	HP:0000598	Abnormality of the ear	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000598	HP:0000598	Abnormality of the ear	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000598	HP:0000598	Abnormality of the ear	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0000598	HP:0000598	Abnormality of the ear	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0000598	Abnormality of the ear	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0000598	HP:0000598	Abnormality of the ear	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25			25
HP:0000598	HP:0000598	Abnormality of the ear	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive			25
HP:0000598	HP:0000598	Abnormality of the ear	0	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49			61
HP:0000598	HP:0000598	Abnormality of the ear	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0000598	HP:0000598	Abnormality of the ear	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0000598	HP:0000598	Abnormality of the ear	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000598	HP:0000598	Abnormality of the ear	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000598	HP:0000598	Abnormality of the ear	0	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0000598	HP:0000598	Abnormality of the ear	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0000598	HP:0000598	Abnormality of the ear	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0000598	HP:0000598	Abnormality of the ear	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0000598	HP:0000598	Abnormality of the ear	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			22
HP:0000598	HP:0000598	Abnormality of the ear	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0000598	HP:0000598	Abnormality of the ear	0	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70			1
HP:0000598	HP:0000598	Abnormality of the ear	0	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0000598	HP:0000598	Abnormality of the ear	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0000598	HP:0000598	Abnormality of the ear	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000598	HP:0000598	Abnormality of the ear	0	MECOM CL E G H	2122	3498	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0000598	HP:0000598	Abnormality of the ear	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0000598	HP:0000598	Abnormality of the ear	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0000598	HP:0000598	Abnormality of the ear	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000598	HP:0000598	Abnormality of the ear	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000598	HP:0000598	Abnormality of the ear	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0000598	HP:0000598	Abnormality of the ear	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0000598	HP:0000598	Abnormality of the ear	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0000598	Abnormality of the ear	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0000598	Abnormality of the ear	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0000598	HP:0000598	Abnormality of the ear	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0000598	HP:0000598	Abnormality of the ear	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000598	HP:0000598	Abnormality of the ear	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000598	HP:0000598	Abnormality of the ear	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0000598	HP:0000598	Abnormality of the ear	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0000598	HP:0000598	Abnormality of the ear	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000598	Abnormality of the ear	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000598	Abnormality of the ear	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0000598	HP:0000598	Abnormality of the ear	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0000598	Abnormality of the ear	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000598	HP:0000598	Abnormality of the ear	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0000598	HP:0000598	Abnormality of the ear	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0000598	HP:0000598	Abnormality of the ear	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000598	HP:0000598	Abnormality of the ear	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0000598	HP:0000598	Abnormality of the ear	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000598	HP:0000598	Abnormality of the ear	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000598	HP:0000598	Abnormality of the ear	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0000598	Abnormality of the ear	0	MET CL E G H	4233	7029	OMIM:616705	DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97			375
HP:0000598	HP:0000598	Abnormality of the ear	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000598	HP:0000598	Abnormality of the ear	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0000598	HP:0000598	Abnormality of the ear	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0000598	HP:0000598	Abnormality of the ear	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0000598	HP:0000598	Abnormality of the ear	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000598	HP:0000598	Abnormality of the ear	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0000598	HP:0000598	Abnormality of the ear	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0000598	HP:0000598	Abnormality of the ear	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000598	HP:0000598	Abnormality of the ear	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000598	HP:0000598	Abnormality of the ear	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0000598	HP:0000598	Abnormality of the ear	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000598	HP:0000598	Abnormality of the ear	0	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0000598	HP:0000598	Abnormality of the ear	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0000598	HP:0000598	Abnormality of the ear	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0000598	HP:0000598	Abnormality of the ear	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0000598	HP:0000598	Abnormality of the ear	0	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50			4
HP:0000598	HP:0000598	Abnormality of the ear	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0000598	HP:0000598	Abnormality of the ear	0	MITF CL E G H	4286	7105	ORPHA:42665	Tietz syndrome			91
HP:0000598	HP:0000598	Abnormality of the ear	0	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0000598	HP:0000598	Abnormality of the ear	0	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0000598	HP:0000598	Abnormality of the ear	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000598	HP:0000598	Abnormality of the ear	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0000598	HP:0000598	Abnormality of the ear	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0000598	HP:0000598	Abnormality of the ear	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0000598	HP:0000598	Abnormality of the ear	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0000598	HP:0000598	Abnormality of the ear	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000598	HP:0000598	Abnormality of the ear	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0000598	HP:0000598	Abnormality of the ear	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000598	HP:0000598	Abnormality of the ear	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0000598	HP:0000598	Abnormality of the ear	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0000598	HP:0000598	Abnormality of the ear	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000598	HP:0000598	Abnormality of the ear	0	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000598	HP:0000598	Abnormality of the ear	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0000598	HP:0000598	Abnormality of the ear	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0000598	HP:0000598	Abnormality of the ear	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0000598	HP:0000598	Abnormality of the ear	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0000598	HP:0000598	Abnormality of the ear	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0000598	HP:0000598	Abnormality of the ear	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0000598	HP:0000598	Abnormality of the ear	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000598	HP:0000598	Abnormality of the ear	0	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0000598	HP:0000598	Abnormality of the ear	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0000598	HP:0000598	Abnormality of the ear	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0000598	HP:0000598	Abnormality of the ear	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000598	HP:0000598	Abnormality of the ear	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0000598	HP:0000598	Abnormality of the ear	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0000598	HP:0000598	Abnormality of the ear	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0000598	HP:0000598	Abnormality of the ear	0	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0000598	HP:0000598	Abnormality of the ear	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0000598	Abnormality of the ear	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0000598	HP:0000598	Abnormality of the ear	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0000598	HP:0000598	Abnormality of the ear	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0000598	HP:0000598	Abnormality of the ear	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000598	HP:0000598	Abnormality of the ear	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0000598	HP:0000598	Abnormality of the ear	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0000598	HP:0000598	Abnormality of the ear	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0000598	Abnormality of the ear	0	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0000598	HP:0000598	Abnormality of the ear	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0000598	HP:0000598	Abnormality of the ear	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000598	HP:0000598	Abnormality of the ear	0	MSRB3 CL E G H	253827	27375	OMIM:613718	Deafness, autosomal recessive 74			16
HP:0000598	HP:0000598	Abnormality of the ear	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0000598	HP:0000598	Abnormality of the ear	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0000598	HP:0000598	Abnormality of the ear	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0000598	HP:0000598	Abnormality of the ear	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0000598	HP:0000598	Abnormality of the ear	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0000598	HP:0000598	Abnormality of the ear	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia			5
HP:0000598	HP:0000598	Abnormality of the ear	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0000598	HP:0000598	Abnormality of the ear	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0000598	HP:0000598	Abnormality of the ear	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000598	HP:0000598	Abnormality of the ear	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0000598	HP:0000598	Abnormality of the ear	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0000598	HP:0000598	Abnormality of the ear	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0000598	HP:0000598	Abnormality of the ear	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0000598	HP:0000598	Abnormality of the ear	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0000598	HP:0000598	Abnormality of the ear	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0000598	HP:0000598	Abnormality of the ear	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy			1143
HP:0000598	HP:0000598	Abnormality of the ear	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0000598	HP:0000598	Abnormality of the ear	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0000598	HP:0000598	Abnormality of the ear	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4			227
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome			227
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome			166
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy			452
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy			1269
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH9 CL E G H	4627	7579	OMIM:603622	Deafness, autosomal dominant nonsyndromic sensorineural 17			297
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss			297
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease			297
HP:0000598	HP:0000598	Abnormality of the ear	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0000598	HP:0000598	Abnormality of the ear	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000598	HP:0000598	Abnormality of the ear	0	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3			387
HP:0000598	HP:0000598	Abnormality of the ear	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0000598	HP:0000598	Abnormality of the ear	0	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30			168
HP:0000598	HP:0000598	Abnormality of the ear	0	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22			179
HP:0000598	HP:0000598	Abnormality of the ear	0	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37			179
HP:0000598	HP:0000598	Abnormality of the ear	0	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11			516
HP:0000598	HP:0000598	Abnormality of the ear	0	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2			516
HP:0000598	HP:0000598	Abnormality of the ear	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000598	HP:0000598	Abnormality of the ear	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000598	HP:0000598	Abnormality of the ear	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000598	HP:0000598	Abnormality of the ear	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000598	HP:0000598	Abnormality of the ear	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0000598	HP:0000598	Abnormality of the ear	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000598	HP:0000598	Abnormality of the ear	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy			217
HP:0000598	HP:0000598	Abnormality of the ear	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0000598	HP:0000598	Abnormality of the ear	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000598	HP:0000598	Abnormality of the ear	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000598	HP:0000598	Abnormality of the ear	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000598	HP:0000598	Abnormality of the ear	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0000598	HP:0000598	Abnormality of the ear	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000598	HP:0000598	Abnormality of the ear	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0000598	HP:0000598	Abnormality of the ear	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0000598	HP:0000598	Abnormality of the ear	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0000598	HP:0000598	Abnormality of the ear	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0000598	HP:0000598	Abnormality of the ear	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0000598	HP:0000598	Abnormality of the ear	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0000598	HP:0000598	Abnormality of the ear	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0000598	HP:0000598	Abnormality of the ear	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000598	HP:0000598	Abnormality of the ear	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome			48
HP:0000598	HP:0000598	Abnormality of the ear	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0000598	HP:0000598	Abnormality of the ear	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000598	HP:0000598	Abnormality of the ear	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0000598	HP:0000598	Abnormality of the ear	0	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94			34
HP:0000598	HP:0000598	Abnormality of the ear	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000598	HP:0000598	Abnormality of the ear	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0000598	HP:0000598	Abnormality of the ear	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0000598	HP:0000598	Abnormality of the ear	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0000598	HP:0000598	Abnormality of the ear	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0000598	HP:0000598	Abnormality of the ear	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0000598	HP:0000598	Abnormality of the ear	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0000598	HP:0000598	Abnormality of the ear	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000598	Abnormality of the ear	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000598	Abnormality of the ear	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000598	Abnormality of the ear	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0000598	HP:0000598	Abnormality of the ear	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000598	HP:0000598	Abnormality of the ear	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0000598	HP:0000598	Abnormality of the ear	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0000598	HP:0000598	Abnormality of the ear	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000598	HP:0000598	Abnormality of the ear	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000598	HP:0000598	Abnormality of the ear	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000598	HP:0000598	Abnormality of the ear	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0000598	HP:0000598	Abnormality of the ear	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D			82
HP:0000598	HP:0000598	Abnormality of the ear	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000598	HP:0000598	Abnormality of the ear	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000598	HP:0000598	Abnormality of the ear	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0000598	HP:0000598	Abnormality of the ear	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0000598	HP:0000598	Abnormality of the ear	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0000598	HP:0000598	Abnormality of the ear	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0000598	HP:0000598	Abnormality of the ear	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.		4
HP:0000598	HP:0000598	Abnormality of the ear	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0000598	HP:0000598	Abnormality of the ear	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0000598	HP:0000598	Abnormality of the ear	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0000598	HP:0000598	Abnormality of the ear	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0000598	HP:0000598	Abnormality of the ear	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0000598	HP:0000598	Abnormality of the ear	0	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0000598	HP:0000598	Abnormality of the ear	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0000598	Abnormality of the ear	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0000598	HP:0000598	Abnormality of the ear	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000598	HP:0000598	Abnormality of the ear	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000598	HP:0000598	Abnormality of the ear	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000598	HP:0000598	Abnormality of the ear	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0000598	HP:0000598	Abnormality of the ear	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000598	HP:0000598	Abnormality of the ear	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy			167
HP:0000598	HP:0000598	Abnormality of the ear	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000598	HP:0000598	Abnormality of the ear	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000598	HP:0000598	Abnormality of the ear	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0000598	HP:0000598	Abnormality of the ear	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0000598	Abnormality of the ear	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0000598	Abnormality of the ear	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0000598	HP:0000598	Abnormality of the ear	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000598	HP:0000598	Abnormality of the ear	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000598	HP:0000598	Abnormality of the ear	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0000598	Abnormality of the ear	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0000598	HP:0000598	Abnormality of the ear	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000598	HP:0000598	Abnormality of the ear	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0000598	HP:0000598	Abnormality of the ear	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0000598	Abnormality of the ear	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0000598	HP:0000598	Abnormality of the ear	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0000598	HP:0000598	Abnormality of the ear	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0000598	HP:0000598	Abnormality of the ear	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0000598	HP:0000598	Abnormality of the ear	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0000598	HP:0000598	Abnormality of the ear	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome			88
HP:0000598	HP:0000598	Abnormality of the ear	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0000598	HP:0000598	Abnormality of the ear	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0000598	HP:0000598	Abnormality of the ear	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0000598	HP:0000598	Abnormality of the ear	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0000598	HP:0000598	Abnormality of the ear	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			60
HP:0000598	HP:0000598	Abnormality of the ear	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0000598	HP:0000598	Abnormality of the ear	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0000598	Abnormality of the ear	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0000598	Abnormality of the ear	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000598	HP:0000598	Abnormality of the ear	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0000598	HP:0000598	Abnormality of the ear	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0000598	HP:0000598	Abnormality of the ear	0	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect			90
HP:0000598	HP:0000598	Abnormality of the ear	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0000598	HP:0000598	Abnormality of the ear	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0000598	HP:0000598	Abnormality of the ear	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0000598	HP:0000598	Abnormality of the ear	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0000598	HP:0000598	Abnormality of the ear	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0000598	HP:0000598	Abnormality of the ear	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0000598	HP:0000598	Abnormality of the ear	0	NME5 CL E G H	8382	7853	OMIM:620032
HP:0000598	HP:0000598	Abnormality of the ear	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0000598	HP:0000598	Abnormality of the ear	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0000598	HP:0000598	Abnormality of the ear	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000598	HP:0000598	Abnormality of the ear	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome	.		187
HP:0000598	HP:0000598	Abnormality of the ear	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0000598	HP:0000598	Abnormality of the ear	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0000598	HP:0000598	Abnormality of the ear	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0000598	HP:0000598	Abnormality of the ear	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0000598	HP:0000598	Abnormality of the ear	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0000598	HP:0000598	Abnormality of the ear	0	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome			22
HP:0000598	HP:0000598	Abnormality of the ear	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000598	HP:0000598	Abnormality of the ear	0	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0000598	HP:0000598	Abnormality of the ear	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0000598	HP:0000598	Abnormality of the ear	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000598	HP:0000598	Abnormality of the ear	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome			22
HP:0000598	HP:0000598	Abnormality of the ear	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0000598	HP:0000598	Abnormality of the ear	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000598	HP:0000598	Abnormality of the ear	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0000598	HP:0000598	Abnormality of the ear	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000598	Abnormality of the ear	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000598	Abnormality of the ear	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0000598	Abnormality of the ear	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000598	HP:0000598	Abnormality of the ear	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000598	HP:0000598	Abnormality of the ear	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0000598	Abnormality of the ear	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0000598	HP:0000598	Abnormality of the ear	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0000598	HP:0000598	Abnormality of the ear	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0000598	HP:0000598	Abnormality of the ear	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0000598	HP:0000598	Abnormality of the ear	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0000598	HP:0000598	Abnormality of the ear	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000598	HP:0000598	Abnormality of the ear	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000598	HP:0000598	Abnormality of the ear	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000598	HP:0000598	Abnormality of the ear	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0000598	HP:0000598	Abnormality of the ear	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0000598	HP:0000598	Abnormality of the ear	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0000598	Abnormality of the ear	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000598	HP:0000598	Abnormality of the ear	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000598	HP:0000598	Abnormality of the ear	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0000598	Abnormality of the ear	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0000598	HP:0000598	Abnormality of the ear	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000598	HP:0000598	Abnormality of the ear	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0000598	Abnormality of the ear	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0000598	HP:0000598	Abnormality of the ear	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000598	HP:0000598	Abnormality of the ear	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000598	Abnormality of the ear	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000598	Abnormality of the ear	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0000598	HP:0000598	Abnormality of the ear	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0000598	Abnormality of the ear	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000598	HP:0000598	Abnormality of the ear	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000598	HP:0000598	Abnormality of the ear	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000598	HP:0000598	Abnormality of the ear	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000598	HP:0000598	Abnormality of the ear	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0000598	HP:0000598	Abnormality of the ear	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0000598	HP:0000598	Abnormality of the ear	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000598	HP:0000598	Abnormality of the ear	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0000598	HP:0000598	Abnormality of the ear	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0000598	HP:0000598	Abnormality of the ear	0	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0000598	HP:0000598	Abnormality of the ear	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0000598	HP:0000598	Abnormality of the ear	0	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000598	HP:0000598	Abnormality of the ear	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0000598	HP:0000598	Abnormality of the ear	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0000598	HP:0000598	Abnormality of the ear	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0000598	HP:0000598	Abnormality of the ear	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000598	HP:0000598	Abnormality of the ear	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0000598	HP:0000598	Abnormality of the ear	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000598	HP:0000598	Abnormality of the ear	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0000598	HP:0000598	Abnormality of the ear	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0000598	HP:0000598	Abnormality of the ear	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0000598	HP:0000598	Abnormality of the ear	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0000598	HP:0000598	Abnormality of the ear	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000598	HP:0000598	Abnormality of the ear	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0000598	HP:0000598	Abnormality of the ear	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000598	HP:0000598	Abnormality of the ear	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0000598	HP:0000598	Abnormality of the ear	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0000598	HP:0000598	Abnormality of the ear	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000598	HP:0000598	Abnormality of the ear	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000598	HP:0000598	Abnormality of the ear	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000598	HP:0000598	Abnormality of the ear	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0000598	HP:0000598	Abnormality of the ear	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000598	HP:0000598	Abnormality of the ear	0	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000598	HP:0000598	Abnormality of the ear	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000598	HP:0000598	Abnormality of the ear	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000598	HP:0000598	Abnormality of the ear	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0000598	Abnormality of the ear	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000598	HP:0000598	Abnormality of the ear	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0000598	HP:0000598	Abnormality of the ear	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000598	HP:0000598	Abnormality of the ear	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0000598	HP:0000598	Abnormality of the ear	0	OSBPL2 CL E G H	9885	15761	OMIM:616340	DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67			2
HP:0000598	HP:0000598	Abnormality of the ear	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0000598	HP:0000598	Abnormality of the ear	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0000598	HP:0000598	Abnormality of the ear	0	OTOA CL E G H	146183	16378	OMIM:607039	Deafness, autosomal recessive 22			58
HP:0000598	HP:0000598	Abnormality of the ear	0	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9			383
HP:0000598	HP:0000598	Abnormality of the ear	0	OTOG CL E G H	340990	8516	OMIM:614945	Deafness, autosomal recessive 18B			165
HP:0000598	HP:0000598	Abnormality of the ear	0	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B			105
HP:0000598	HP:0000598	Abnormality of the ear	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000598	HP:0000598	Abnormality of the ear	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000598	HP:0000598	Abnormality of the ear	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0000598	HP:0000598	Abnormality of the ear	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0000598	HP:0000598	Abnormality of the ear	0	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41			23
HP:0000598	HP:0000598	Abnormality of the ear	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0000598	HP:0000598	Abnormality of the ear	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000598	HP:0000598	Abnormality of the ear	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0000598	HP:0000598	Abnormality of the ear	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0000598	HP:0000598	Abnormality of the ear	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000598	HP:0000598	Abnormality of the ear	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000598	HP:0000598	Abnormality of the ear	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000598	HP:0000598	Abnormality of the ear	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0000598	HP:0000598	Abnormality of the ear	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0000598	HP:0000598	Abnormality of the ear	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome			39
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome			59
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			194
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0000598	HP:0000598	Abnormality of the ear	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000598	HP:0000598	Abnormality of the ear	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000598	Abnormality of the ear	0	PCDH15 CL E G H	65217	14674	OMIM:609533	Deafness, autosomal recessive 23			352
HP:0000598	HP:0000598	Abnormality of the ear	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000598	HP:0000598	Abnormality of the ear	0	PCDH15 CL E G H	65217	14674	OMIM:601067	Usher syndrome, type ID			352
HP:0000598	HP:0000598	Abnormality of the ear	0	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF			352
HP:0000598	HP:0000598	Abnormality of the ear	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000598	HP:0000598	Abnormality of the ear	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0000598	HP:0000598	Abnormality of the ear	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0000598	HP:0000598	Abnormality of the ear	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0000598	HP:0000598	Abnormality of the ear	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0000598	HP:0000598	Abnormality of the ear	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0000598	HP:0000598	Abnormality of the ear	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0000598	HP:0000598	Abnormality of the ear	0	PDE1C CL E G H	5137	8776	OMIM:618140	Deafness, autosomal dominant 74			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0000598	HP:0000598	Abnormality of the ear	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000598	HP:0000598	Abnormality of the ear	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000598	HP:0000598	Abnormality of the ear	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000598	HP:0000598	Abnormality of the ear	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000598	HP:0000598	Abnormality of the ear	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000598	HP:0000598	Abnormality of the ear	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5			9
HP:0000598	HP:0000598	Abnormality of the ear	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000598	HP:0000598	Abnormality of the ear	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0000598	HP:0000598	Abnormality of the ear	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0000598	HP:0000598	Abnormality of the ear	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0000598	HP:0000598	Abnormality of the ear	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6			4
HP:0000598	HP:0000598	Abnormality of the ear	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0000598	HP:0000598	Abnormality of the ear	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0000598	HP:0000598	Abnormality of the ear	0	PDZD7 CL E G H	79955	26257	OMIM:618003	DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57			40
HP:0000598	HP:0000598	Abnormality of the ear	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000598	HP:0000598	Abnormality of the ear	0	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA			40
HP:0000598	HP:0000598	Abnormality of the ear	0	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC			40
HP:0000598	HP:0000598	Abnormality of the ear	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000598	HP:0000598	Abnormality of the ear	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0000598	HP:0000598	Abnormality of the ear	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0000598	HP:0000598	Abnormality of the ear	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1			169
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B			66
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B			106
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B			47
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B			99
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B			72
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0000598	HP:0000598	Abnormality of the ear	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0000598	HP:0000598	Abnormality of the ear	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000598	HP:0000598	Abnormality of the ear	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0000598	HP:0000598	Abnormality of the ear	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000598	HP:0000598	Abnormality of the ear	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0000598	HP:0000598	Abnormality of the ear	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0000598	HP:0000598	Abnormality of the ear	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0000598	HP:0000598	Abnormality of the ear	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0000598	HP:0000598	Abnormality of the ear	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0000598	HP:0000598	Abnormality of the ear	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0000598	HP:0000598	Abnormality of the ear	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0000598	HP:0000598	Abnormality of the ear	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0000598	HP:0000598	Abnormality of the ear	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0000598	HP:0000598	Abnormality of the ear	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0000598	HP:0000598	Abnormality of the ear	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0000598	HP:0000598	Abnormality of the ear	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0000598	HP:0000598	Abnormality of the ear	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0000598	HP:0000598	Abnormality of the ear	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0000598	HP:0000598	Abnormality of the ear	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0000598	HP:0000598	Abnormality of the ear	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0000598	HP:0000598	Abnormality of the ear	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0000598	HP:0000598	Abnormality of the ear	0	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0000598	HP:0000598	Abnormality of the ear	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0000598	HP:0000598	Abnormality of the ear	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0000598	HP:0000598	Abnormality of the ear	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0000598	HP:0000598	Abnormality of the ear	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0000598	HP:0000598	Abnormality of the ear	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0000598	HP:0000598	Abnormality of the ear	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0000598	HP:0000598	Abnormality of the ear	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000598	HP:0000598	Abnormality of the ear	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0000598	HP:0000598	Abnormality of the ear	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0000598	HP:0000598	Abnormality of the ear	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0000598	HP:0000598	Abnormality of the ear	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000598	HP:0000598	Abnormality of the ear	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0000598	HP:0000598	Abnormality of the ear	0	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0000598	HP:0000598	Abnormality of the ear	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0000598	HP:0000598	Abnormality of the ear	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome			51
HP:0000598	HP:0000598	Abnormality of the ear	0	PJVK CL E G H	494513	29502	OMIM:610220	Deafness, autosomal recessive 59			45
HP:0000598	HP:0000598	Abnormality of the ear	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0000598	HP:0000598	Abnormality of the ear	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0000598	HP:0000598	Abnormality of the ear	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000598	HP:0000598	Abnormality of the ear	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000598	HP:0000598	Abnormality of the ear	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0000598	HP:0000598	Abnormality of the ear	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0000598	HP:0000598	Abnormality of the ear	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3			21
HP:0000598	HP:0000598	Abnormality of the ear	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000598	HP:0000598	Abnormality of the ear	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000598	HP:0000598	Abnormality of the ear	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0000598	Abnormality of the ear	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0000598	Abnormality of the ear	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia			11
HP:0000598	HP:0000598	Abnormality of the ear	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy			57
HP:0000598	HP:0000598	Abnormality of the ear	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0000598	HP:0000598	Abnormality of the ear	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0000598	HP:0000598	Abnormality of the ear	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0000598	HP:0000598	Abnormality of the ear	0	PLS1 CL E G H	5357	9090	OMIM:618787	DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76
HP:0000598	HP:0000598	Abnormality of the ear	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0000598	HP:0000598	Abnormality of the ear	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000598	HP:0000598	Abnormality of the ear	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000598	HP:0000598	Abnormality of the ear	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0000598	HP:0000598	Abnormality of the ear	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness			79
HP:0000598	HP:0000598	Abnormality of the ear	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0000598	HP:0000598	Abnormality of the ear	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0000598	HP:0000598	Abnormality of the ear	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0000598	HP:0000598	Abnormality of the ear	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0000598	HP:0000598	Abnormality of the ear	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0000598	HP:0000598	Abnormality of the ear	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			47
HP:0000598	HP:0000598	Abnormality of the ear	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0000598	HP:0000598	Abnormality of the ear	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0000598	HP:0000598	Abnormality of the ear	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0000598	HP:0000598	Abnormality of the ear	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000598	HP:0000598	Abnormality of the ear	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0000598	HP:0000598	Abnormality of the ear	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0000598	HP:0000598	Abnormality of the ear	0	PNPT1 CL E G H	87178	23166	OMIM:614934	DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70			60
HP:0000598	HP:0000598	Abnormality of the ear	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0000598	HP:0000598	Abnormality of the ear	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000598	HP:0000598	Abnormality of the ear	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000598	HP:0000598	Abnormality of the ear	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000598	HP:0000598	Abnormality of the ear	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0000598	HP:0000598	Abnormality of the ear	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0000598	HP:0000598	Abnormality of the ear	0	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome			1129
HP:0000598	HP:0000598	Abnormality of the ear	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0000598	HP:0000598	Abnormality of the ear	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0000598	HP:0000598	Abnormality of the ear	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0000598	HP:0000598	Abnormality of the ear	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000598	HP:0000598	Abnormality of the ear	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0000598	HP:0000598	Abnormality of the ear	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0000598	HP:0000598	Abnormality of the ear	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000598	HP:0000598	Abnormality of the ear	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000598	HP:0000598	Abnormality of the ear	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000598	HP:0000598	Abnormality of the ear	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0000598	HP:0000598	Abnormality of the ear	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0000598	HP:0000598	Abnormality of the ear	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0000598	HP:0000598	Abnormality of the ear	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000598	HP:0000598	Abnormality of the ear	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3			38
HP:0000598	HP:0000598	Abnormality of the ear	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0000598	Abnormality of the ear	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0000598	Abnormality of the ear	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0000598	Abnormality of the ear	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0000598	HP:0000598	Abnormality of the ear	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000598	Abnormality of the ear	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000598	HP:0000598	Abnormality of the ear	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0000598	HP:0000598	Abnormality of the ear	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000598	HP:0000598	Abnormality of the ear	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000598	HP:0000598	Abnormality of the ear	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0000598	HP:0000598	Abnormality of the ear	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0000598	HP:0000598	Abnormality of the ear	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0000598	HP:0000598	Abnormality of the ear	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000598	HP:0000598	Abnormality of the ear	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0000598	HP:0000598	Abnormality of the ear	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000598	HP:0000598	Abnormality of the ear	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0000598	HP:0000598	Abnormality of the ear	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0000598	HP:0000598	Abnormality of the ear	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0000598	HP:0000598	Abnormality of the ear	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0000598	HP:0000598	Abnormality of the ear	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000598	HP:0000598	Abnormality of the ear	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0000598	Abnormality of the ear	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0000598	HP:0000598	Abnormality of the ear	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000598	HP:0000598	Abnormality of the ear	0	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0000598	Abnormality of the ear	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0000598	Abnormality of the ear	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0000598	HP:0000598	Abnormality of the ear	0	POU4F3 CL E G H	5459	9220	OMIM:602459	Deafness, autosomal dominant 15			29
HP:0000598	HP:0000598	Abnormality of the ear	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000598	Abnormality of the ear	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000598	HP:0000598	Abnormality of the ear	0	PPIP5K2 CL E G H	23262	29035	OMIM:618422	Deafness, autosomal recessive 100			2
HP:0000598	HP:0000598	Abnormality of the ear	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0000598	HP:0000598	Abnormality of the ear	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0000598	HP:0000598	Abnormality of the ear	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000598	HP:0000598	Abnormality of the ear	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000598	HP:0000598	Abnormality of the ear	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0000598	HP:0000598	Abnormality of the ear	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000598	HP:0000598	Abnormality of the ear	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000598	HP:0000598	Abnormality of the ear	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000598	HP:0000598	Abnormality of the ear	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0000598	HP:0000598	Abnormality of the ear	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000598	HP:0000598	Abnormality of the ear	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0000598	HP:0000598	Abnormality of the ear	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0000598	HP:0000598	Abnormality of the ear	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0000598	HP:0000598	Abnormality of the ear	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000598	HP:0000598	Abnormality of the ear	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0000598	Abnormality of the ear	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy			148
HP:0000598	HP:0000598	Abnormality of the ear	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000598	HP:0000598	Abnormality of the ear	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2			58
HP:0000598	HP:0000598	Abnormality of the ear	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000598	HP:0000598	Abnormality of the ear	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0000598	HP:0000598	Abnormality of the ear	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000598	HP:0000598	Abnormality of the ear	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0000598	HP:0000598	Abnormality of the ear	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000598	HP:0000598	Abnormality of the ear	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0000598	HP:0000598	Abnormality of the ear	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000598	HP:0000598	Abnormality of the ear	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0000598	HP:0000598	Abnormality of the ear	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0000598	HP:0000598	Abnormality of the ear	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000598	HP:0000598	Abnormality of the ear	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000598	HP:0000598	Abnormality of the ear	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0000598	HP:0000598	Abnormality of the ear	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia			34
HP:0000598	HP:0000598	Abnormality of the ear	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0000598	Abnormality of the ear	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0000598	HP:0000598	Abnormality of the ear	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000598	HP:0000598	Abnormality of the ear	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0000598	HP:0000598	Abnormality of the ear	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPS1 CL E G H	5631	9462	OMIM:304500	DEAFNESS, X-LINKED 1; DFNX1			49
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5			49
HP:0000598	HP:0000598	Abnormality of the ear	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000598	HP:0000598	Abnormality of the ear	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0000598	Abnormality of the ear	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000598	HP:0000598	Abnormality of the ear	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0000598	HP:0000598	Abnormality of the ear	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0000598	Abnormality of the ear	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0000598	HP:0000598	Abnormality of the ear	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0000598	HP:0000598	Abnormality of the ear	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0000598	HP:0000598	Abnormality of the ear	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0000598	HP:0000598	Abnormality of the ear	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0000598	HP:0000598	Abnormality of the ear	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0000598	HP:0000598	Abnormality of the ear	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy			241
HP:0000598	HP:0000598	Abnormality of the ear	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy			59
HP:0000598	HP:0000598	Abnormality of the ear	0	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0000598	HP:0000598	Abnormality of the ear	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0000598	HP:0000598	Abnormality of the ear	0	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0000598	HP:0000598	Abnormality of the ear	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000598	HP:0000598	Abnormality of the ear	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0000598	HP:0000598	Abnormality of the ear	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000598	HP:0000598	Abnormality of the ear	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0000598	HP:0000598	Abnormality of the ear	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000598	HP:0000598	Abnormality of the ear	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0000598	HP:0000598	Abnormality of the ear	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0000598	HP:0000598	Abnormality of the ear	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0000598	HP:0000598	Abnormality of the ear	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0000598	HP:0000598	Abnormality of the ear	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0000598	Abnormality of the ear	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0000598	Abnormality of the ear	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0000598	HP:0000598	Abnormality of the ear	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0000598	HP:0000598	Abnormality of the ear	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0000598	HP:0000598	Abnormality of the ear	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0000598	HP:0000598	Abnormality of the ear	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000598	HP:0000598	Abnormality of the ear	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0000598	HP:0000598	Abnormality of the ear	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0000598	HP:0000598	Abnormality of the ear	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0000598	HP:0000598	Abnormality of the ear	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0000598	HP:0000598	Abnormality of the ear	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0000598	HP:0000598	Abnormality of the ear	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0000598	Abnormality of the ear	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0000598	HP:0000598	Abnormality of the ear	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0000598	HP:0000598	Abnormality of the ear	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0000598	HP:0000598	Abnormality of the ear	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2			1
HP:0000598	HP:0000598	Abnormality of the ear	0	PTPRQ CL E G H	374462	9679	OMIM:617663	Deafness, autosomal dominant 73			7
HP:0000598	HP:0000598	Abnormality of the ear	0	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84			7
HP:0000598	HP:0000598	Abnormality of the ear	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000598	HP:0000598	Abnormality of the ear	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000598	HP:0000598	Abnormality of the ear	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000598	HP:0000598	Abnormality of the ear	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000598	HP:0000598	Abnormality of the ear	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0000598	HP:0000598	Abnormality of the ear	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0000598	HP:0000598	Abnormality of the ear	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0000598	HP:0000598	Abnormality of the ear	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000598	HP:0000598	Abnormality of the ear	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0000598	HP:0000598	Abnormality of the ear	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0000598	HP:0000598	Abnormality of the ear	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0000598	HP:0000598	Abnormality of the ear	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000598	HP:0000598	Abnormality of the ear	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0000598	HP:0000598	Abnormality of the ear	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000598	HP:0000598	Abnormality of the ear	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69			135
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0000598	HP:0000598	Abnormality of the ear	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000598	HP:0000598	Abnormality of the ear	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000598	HP:0000598	Abnormality of the ear	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000598	HP:0000598	Abnormality of the ear	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0000598	HP:0000598	Abnormality of the ear	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0000598	Abnormality of the ear	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000598	HP:0000598	Abnormality of the ear	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0000598	HP:0000598	Abnormality of the ear	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0000598	HP:0000598	Abnormality of the ear	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy			212
HP:0000598	HP:0000598	Abnormality of the ear	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0000598	HP:0000598	Abnormality of the ear	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0000598	Abnormality of the ear	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0000598	HP:0000598	Abnormality of the ear	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0000598	HP:0000598	Abnormality of the ear	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			127
HP:0000598	HP:0000598	Abnormality of the ear	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			50
HP:0000598	HP:0000598	Abnormality of the ear	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0000598	HP:0000598	Abnormality of the ear	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0000598	HP:0000598	Abnormality of the ear	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000598	HP:0000598	Abnormality of the ear	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0000598	HP:0000598	Abnormality of the ear	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000598	HP:0000598	Abnormality of the ear	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0000598	HP:0000598	Abnormality of the ear	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0000598	HP:0000598	Abnormality of the ear	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0000598	HP:0000598	Abnormality of the ear	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0000598	HP:0000598	Abnormality of the ear	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0000598	HP:0000598	Abnormality of the ear	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0000598	HP:0000598	Abnormality of the ear	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0000598	HP:0000598	Abnormality of the ear	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0000598	HP:0000598	Abnormality of the ear	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy			363
HP:0000598	HP:0000598	Abnormality of the ear	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0000598	HP:0000598	Abnormality of the ear	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0000598	Abnormality of the ear	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000598	HP:0000598	Abnormality of the ear	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0000598	HP:0000598	Abnormality of the ear	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0000598	HP:0000598	Abnormality of the ear	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0000598	Abnormality of the ear	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000598	HP:0000598	Abnormality of the ear	0	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24			97
HP:0000598	HP:0000598	Abnormality of the ear	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000598	HP:0000598	Abnormality of the ear	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0000598	HP:0000598	Abnormality of the ear	0	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome			445
HP:0000598	HP:0000598	Abnormality of the ear	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000598	HP:0000598	Abnormality of the ear	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0000598	Abnormality of the ear	0	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53			1
HP:0000598	HP:0000598	Abnormality of the ear	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0000598	HP:0000598	Abnormality of the ear	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0000598	Abnormality of the ear	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0000598	Abnormality of the ear	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000598	HP:0000598	Abnormality of the ear	0	REST CL E G H	5978	9966	OMIM:612431	DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27			7
HP:0000598	HP:0000598	Abnormality of the ear	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0000598	HP:0000598	Abnormality of the ear	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000598	HP:0000598	Abnormality of the ear	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0000598	HP:0000598	Abnormality of the ear	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0000598	HP:0000598	Abnormality of the ear	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0000598	HP:0000598	Abnormality of the ear	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0000598	HP:0000598	Abnormality of the ear	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0000598	HP:0000598	Abnormality of the ear	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0000598	HP:0000598	Abnormality of the ear	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000598	HP:0000598	Abnormality of the ear	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0000598	HP:0000598	Abnormality of the ear	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0000598	HP:0000598	Abnormality of the ear	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0000598	HP:0000598	Abnormality of the ear	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0000598	Abnormality of the ear	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000598	HP:0000598	Abnormality of the ear	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000598	HP:0000598	Abnormality of the ear	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0000598	HP:0000598	Abnormality of the ear	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000598	HP:0000598	Abnormality of the ear	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000598	HP:0000598	Abnormality of the ear	0	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21			1
HP:0000598	HP:0000598	Abnormality of the ear	0	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104			1
HP:0000598	HP:0000598	Abnormality of the ear	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0000598	HP:0000598	Abnormality of the ear	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0000598	Abnormality of the ear	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0000598	HP:0000598	Abnormality of the ear	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0000598	Abnormality of the ear	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000598	HP:0000598	Abnormality of the ear	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0000598	HP:0000598	Abnormality of the ear	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000598	HP:0000598	Abnormality of the ear	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000598	HP:0000598	Abnormality of the ear	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0000598	HP:0000598	Abnormality of the ear	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0000598	HP:0000598	Abnormality of the ear	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0000598	HP:0000598	Abnormality of the ear	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000598	Abnormality of the ear	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000598	HP:0000598	Abnormality of the ear	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0000598	HP:0000598	Abnormality of the ear	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000598	HP:0000598	Abnormality of the ear	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0000598	HP:0000598	Abnormality of the ear	0	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0000598	HP:0000598	Abnormality of the ear	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0000598	HP:0000598	Abnormality of the ear	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0000598	HP:0000598	Abnormality of the ear	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0000598	HP:0000598	Abnormality of the ear	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0000598	HP:0000598	Abnormality of the ear	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			90
HP:0000598	HP:0000598	Abnormality of the ear	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000598	HP:0000598	Abnormality of the ear	0	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000598	HP:0000598	Abnormality of the ear	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000598	HP:0000598	Abnormality of the ear	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000598	HP:0000598	Abnormality of the ear	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000598	HP:0000598	Abnormality of the ear	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0000598	Abnormality of the ear	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0000598	Abnormality of the ear	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0000598	HP:0000598	Abnormality of the ear	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000598	HP:0000598	Abnormality of the ear	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0000598	HP:0000598	Abnormality of the ear	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000598	HP:0000598	Abnormality of the ear	0	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS			200
HP:0000598	HP:0000598	Abnormality of the ear	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0000598	HP:0000598	Abnormality of the ear	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0000598	HP:0000598	Abnormality of the ear	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000598	HP:0000598	Abnormality of the ear	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0000598	HP:0000598	Abnormality of the ear	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11			3
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0000598	HP:0000598	Abnormality of the ear	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0000598	HP:0000598	Abnormality of the ear	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0000598	Abnormality of the ear	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000598	HP:0000598	Abnormality of the ear	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0000598	HP:0000598	Abnormality of the ear	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome			125
HP:0000598	HP:0000598	Abnormality of the ear	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0000598	HP:0000598	Abnormality of the ear	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0000598	HP:0000598	Abnormality of the ear	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000598	HP:0000598	Abnormality of the ear	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0000598	HP:0000598	Abnormality of the ear	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0000598	HP:0000598	Abnormality of the ear	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0000598	HP:0000598	Abnormality of the ear	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0000598	HP:0000598	Abnormality of the ear	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0000598	HP:0000598	Abnormality of the ear	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0000598	Abnormality of the ear	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000598	HP:0000598	Abnormality of the ear	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0000598	Abnormality of the ear	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000598	HP:0000598	Abnormality of the ear	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0000598	HP:0000598	Abnormality of the ear	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000598	HP:0000598	Abnormality of the ear	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0000598	HP:0000598	Abnormality of the ear	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0000598	HP:0000598	Abnormality of the ear	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000598	HP:0000598	Abnormality of the ear	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0000598	Abnormality of the ear	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0000598	HP:0000598	Abnormality of the ear	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0000598	HP:0000598	Abnormality of the ear	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0000598	HP:0000598	Abnormality of the ear	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0000598	HP:0000598	Abnormality of the ear	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0000598	HP:0000598	Abnormality of the ear	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0000598	HP:0000598	Abnormality of the ear	0	RYR2 CL E G H	6262	10484	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			1103
HP:0000598	HP:0000598	Abnormality of the ear	0	S1PR2 CL E G H	9294	3169	OMIM:610419	Deafness, autosomal recessive 68			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000598	HP:0000598	Abnormality of the ear	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000598	HP:0000598	Abnormality of the ear	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0000598	Abnormality of the ear	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000598	HP:0000598	Abnormality of the ear	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000598	HP:0000598	Abnormality of the ear	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000598	HP:0000598	Abnormality of the ear	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0000598	HP:0000598	Abnormality of the ear	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0000598	HP:0000598	Abnormality of the ear	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0000598	HP:0000598	Abnormality of the ear	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000598	HP:0000598	Abnormality of the ear	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000598	HP:0000598	Abnormality of the ear	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0000598	HP:0000598	Abnormality of the ear	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0000598	HP:0000598	Abnormality of the ear	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0000598	HP:0000598	Abnormality of the ear	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0000598	HP:0000598	Abnormality of the ear	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000598	HP:0000598	Abnormality of the ear	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0000598	HP:0000598	Abnormality of the ear	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000598	Abnormality of the ear	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000598	HP:0000598	Abnormality of the ear	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000598	HP:0000598	Abnormality of the ear	0	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect			126
HP:0000598	HP:0000598	Abnormality of the ear	0	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0000598	HP:0000598	Abnormality of the ear	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0000598	HP:0000598	Abnormality of the ear	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy			1134
HP:0000598	HP:0000598	Abnormality of the ear	0	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect			1134
HP:0000598	HP:0000598	Abnormality of the ear	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000598	HP:0000598	Abnormality of the ear	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0000598	HP:0000598	Abnormality of the ear	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000598	HP:0000598	Abnormality of the ear	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0000598	HP:0000598	Abnormality of the ear	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy			304
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2			55
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome			237
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4			237
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome			147
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3			147
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome			129
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1			129
HP:0000598	HP:0000598	Abnormality of the ear	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0000598	HP:0000598	Abnormality of the ear	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0000598	HP:0000598	Abnormality of the ear	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0000598	HP:0000598	Abnormality of the ear	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000598	HP:0000598	Abnormality of the ear	0	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0000598	Abnormality of the ear	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0000598	HP:0000598	Abnormality of the ear	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0000598	HP:0000598	Abnormality of the ear	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0000598	Abnormality of the ear	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000598	Abnormality of the ear	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0000598	HP:0000598	Abnormality of the ear	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0000598	HP:0000598	Abnormality of the ear	0	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0000598	HP:0000598	Abnormality of the ear	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0000598	HP:0000598	Abnormality of the ear	0	SERPINB6 CL E G H	5269	8950	OMIM:613453	Deafness, autosomal recessive 91			29
HP:0000598	HP:0000598	Abnormality of the ear	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0000598	HP:0000598	Abnormality of the ear	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0000598	HP:0000598	Abnormality of the ear	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000598	HP:0000598	Abnormality of the ear	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0000598	HP:0000598	Abnormality of the ear	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0000598	Abnormality of the ear	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0000598	Abnormality of the ear	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0000598	HP:0000598	Abnormality of the ear	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000598	HP:0000598	Abnormality of the ear	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000598	HP:0000598	Abnormality of the ear	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000598	HP:0000598	Abnormality of the ear	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0000598	HP:0000598	Abnormality of the ear	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0000598	HP:0000598	Abnormality of the ear	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0000598	Abnormality of the ear	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy			223
HP:0000598	HP:0000598	Abnormality of the ear	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000598	HP:0000598	Abnormality of the ear	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0000598	HP:0000598	Abnormality of the ear	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0000598	HP:0000598	Abnormality of the ear	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0000598	HP:0000598	Abnormality of the ear	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0000598	HP:0000598	Abnormality of the ear	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0000598	HP:0000598	Abnormality of the ear	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000598	HP:0000598	Abnormality of the ear	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0000598	HP:0000598	Abnormality of the ear	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0000598	HP:0000598	Abnormality of the ear	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000598	HP:0000598	Abnormality of the ear	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0000598	HP:0000598	Abnormality of the ear	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0000598	HP:0000598	Abnormality of the ear	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0000598	HP:0000598	Abnormality of the ear	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0000598	HP:0000598	Abnormality of the ear	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0000598	HP:0000598	Abnormality of the ear	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000598	HP:0000598	Abnormality of the ear	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000598	HP:0000598	Abnormality of the ear	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0000598	HP:0000598	Abnormality of the ear	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation			9
HP:0000598	HP:0000598	Abnormality of the ear	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX5 CL E G H	147912	10891	OMIM:610896	Branchiootorenal syndrome 2			10
HP:0000598	HP:0000598	Abnormality of the ear	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0000598	HP:0000598	Abnormality of the ear	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0000598	Abnormality of the ear	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0000598	Abnormality of the ear	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000598	HP:0000598	Abnormality of the ear	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC17A8 CL E G H	246213	20151	OMIM:605583	DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25			64
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6			63
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct			274
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC26A5 CL E G H	375611	9359	OMIM:613865	DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61			49
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72			1
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome			66
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0000598	HP:0000598	Abnormality of the ear	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0000598	HP:0000598	Abnormality of the ear	0	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia			4
HP:0000598	HP:0000598	Abnormality of the ear	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0000598	HP:0000598	Abnormality of the ear	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P			274
HP:0000598	HP:0000598	Abnormality of the ear	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0000598	HP:0000598	Abnormality of the ear	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0000598	HP:0000598	Abnormality of the ear	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0000598	HP:0000598	Abnormality of the ear	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000598	HP:0000598	Abnormality of the ear	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0000598	Abnormality of the ear	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000598	HP:0000598	Abnormality of the ear	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0000598	HP:0000598	Abnormality of the ear	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0000598	Abnormality of the ear	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000598	HP:0000598	Abnormality of the ear	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0000598	Abnormality of the ear	0	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0000598	HP:0000598	Abnormality of the ear	0	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2			174
HP:0000598	HP:0000598	Abnormality of the ear	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000598	HP:0000598	Abnormality of the ear	0	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0000598	HP:0000598	Abnormality of the ear	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0000598	HP:0000598	Abnormality of the ear	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000598	HP:0000598	Abnormality of the ear	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0000598	HP:0000598	Abnormality of the ear	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0000598	HP:0000598	Abnormality of the ear	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000598	HP:0000598	Abnormality of the ear	0	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4			12
HP:0000598	HP:0000598	Abnormality of the ear	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0000598	HP:0000598	Abnormality of the ear	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0000598	HP:0000598	Abnormality of the ear	0	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait	.		19
HP:0000598	HP:0000598	Abnormality of the ear	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0000598	HP:0000598	Abnormality of the ear	0	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0000598	HP:0000598	Abnormality of the ear	0	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D			19
HP:0000598	HP:0000598	Abnormality of the ear	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0000598	HP:0000598	Abnormality of the ear	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0000598	HP:0000598	Abnormality of the ear	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000598	HP:0000598	Abnormality of the ear	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0000598	HP:0000598	Abnormality of the ear	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0000598	HP:0000598	Abnormality of the ear	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0000598	HP:0000598	Abnormality of the ear	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000598	HP:0000598	Abnormality of the ear	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000598	HP:0000598	Abnormality of the ear	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0000598	Abnormality of the ear	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000598	HP:0000598	Abnormality of the ear	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0000598	Abnormality of the ear	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0000598	HP:0000598	Abnormality of the ear	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0000598	HP:0000598	Abnormality of the ear	0	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata			26
HP:0000598	HP:0000598	Abnormality of the ear	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0000598	HP:0000598	Abnormality of the ear	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0000598	HP:0000598	Abnormality of the ear	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000598	HP:0000598	Abnormality of the ear	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0000598	HP:0000598	Abnormality of the ear	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0000598	HP:0000598	Abnormality of the ear	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0000598	HP:0000598	Abnormality of the ear	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0000598	HP:0000598	Abnormality of the ear	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0000598	HP:0000598	Abnormality of the ear	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0000598	HP:0000598	Abnormality of the ear	0	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0000598	HP:0000598	Abnormality of the ear	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0000598	HP:0000598	Abnormality of the ear	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000598	Abnormality of the ear	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0000598	HP:0000598	Abnormality of the ear	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0000598	HP:0000598	Abnormality of the ear	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0000598	Abnormality of the ear	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0000598	HP:0000598	Abnormality of the ear	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0000598	HP:0000598	Abnormality of the ear	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies			6
HP:0000598	HP:0000598	Abnormality of the ear	0	SPNS2 CL E G H	124976	26992	OMIM:618457	Deafness, autosomal recessive 115
HP:0000598	HP:0000598	Abnormality of the ear	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000598	HP:0000598	Abnormality of the ear	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0000598	Abnormality of the ear	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0000598	HP:0000598	Abnormality of the ear	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0000598	HP:0000598	Abnormality of the ear	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000598	HP:0000598	Abnormality of the ear	0	SPRY4 CL E G H	81848	15533	OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia			5
HP:0000598	HP:0000598	Abnormality of the ear	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0000598	HP:0000598	Abnormality of the ear	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0000598	Abnormality of the ear	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000598	HP:0000598	Abnormality of the ear	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			54
HP:0000598	HP:0000598	Abnormality of the ear	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0000598	HP:0000598	Abnormality of the ear	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			149
HP:0000598	HP:0000598	Abnormality of the ear	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0000598	HP:0000598	Abnormality of the ear	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0000598	HP:0000598	Abnormality of the ear	0	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0000598	HP:0000598	Abnormality of the ear	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000598	HP:0000598	Abnormality of the ear	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0000598	Abnormality of the ear	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000598	HP:0000598	Abnormality of the ear	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0000598	HP:0000598	Abnormality of the ear	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0000598	HP:0000598	Abnormality of the ear	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	SRP72 CL E G H	6731	11303	OMIM:614675	Bone marrow failure syndrome 1			68
HP:0000598	HP:0000598	Abnormality of the ear	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0000598	HP:0000598	Abnormality of the ear	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000598	HP:0000598	Abnormality of the ear	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0000598	HP:0000598	Abnormality of the ear	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0000598	HP:0000598	Abnormality of the ear	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0000598	HP:0000598	Abnormality of the ear	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0000598	HP:0000598	Abnormality of the ear	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0000598	HP:0000598	Abnormality of the ear	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000598	HP:0000598	Abnormality of the ear	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0000598	Abnormality of the ear	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000598	HP:0000598	Abnormality of the ear	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000598	HP:0000598	Abnormality of the ear	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0000598	HP:0000598	Abnormality of the ear	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0000598	HP:0000598	Abnormality of the ear	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0000598	HP:0000598	Abnormality of the ear	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0000598	HP:0000598	Abnormality of the ear	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0000598	HP:0000598	Abnormality of the ear	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0000598	HP:0000598	Abnormality of the ear	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000598	HP:0000598	Abnormality of the ear	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0000598	HP:0000598	Abnormality of the ear	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0000598	HP:0000598	Abnormality of the ear	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0000598	HP:0000598	Abnormality of the ear	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0000598	HP:0000598	Abnormality of the ear	0	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0000598	HP:0000598	Abnormality of the ear	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0000598	HP:0000598	Abnormality of the ear	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0000598	HP:0000598	Abnormality of the ear	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0000598	HP:0000598	Abnormality of the ear	0	STRC CL E G H	161497	16035	OMIM:603720	DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16			78
HP:0000598	HP:0000598	Abnormality of the ear	0	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility			78
HP:0000598	HP:0000598	Abnormality of the ear	0	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome			78
HP:0000598	HP:0000598	Abnormality of the ear	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000598	HP:0000598	Abnormality of the ear	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0000598	HP:0000598	Abnormality of the ear	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0000598	HP:0000598	Abnormality of the ear	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000598	Abnormality of the ear	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0000598	HP:0000598	Abnormality of the ear	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0000598	HP:0000598	Abnormality of the ear	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0000598	HP:0000598	Abnormality of the ear	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0000598	HP:0000598	Abnormality of the ear	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0000598	HP:0000598	Abnormality of the ear	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0000598	HP:0000598	Abnormality of the ear	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0000598	HP:0000598	Abnormality of the ear	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0000598	HP:0000598	Abnormality of the ear	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000598	HP:0000598	Abnormality of the ear	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0000598	HP:0000598	Abnormality of the ear	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0000598	HP:0000598	Abnormality of the ear	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0000598	HP:0000598	Abnormality of the ear	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0000598	HP:0000598	Abnormality of the ear	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000598	HP:0000598	Abnormality of the ear	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000598	HP:0000598	Abnormality of the ear	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0000598	HP:0000598	Abnormality of the ear	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0000598	HP:0000598	Abnormality of the ear	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0000598	HP:0000598	Abnormality of the ear	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0000598	HP:0000598	Abnormality of the ear	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000598	HP:0000598	Abnormality of the ear	0	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76			21
HP:0000598	HP:0000598	Abnormality of the ear	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0000598	HP:0000598	Abnormality of the ear	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic			4
HP:0000598	HP:0000598	Abnormality of the ear	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000598	HP:0000598	Abnormality of the ear	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0000598	Abnormality of the ear	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0000598	HP:0000598	Abnormality of the ear	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0000598	HP:0000598	Abnormality of the ear	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0000598	Abnormality of the ear	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000598	Abnormality of the ear	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000598	HP:0000598	Abnormality of the ear	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000598	Abnormality of the ear	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000598	Abnormality of the ear	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0000598	HP:0000598	Abnormality of the ear	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0000598	HP:0000598	Abnormality of the ear	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000598	HP:0000598	Abnormality of the ear	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0000598	Abnormality of the ear	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I			5
HP:0000598	HP:0000598	Abnormality of the ear	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I			17
HP:0000598	HP:0000598	Abnormality of the ear	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I			3
HP:0000598	HP:0000598	Abnormality of the ear	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0000598	HP:0000598	Abnormality of the ear	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000598	Abnormality of the ear	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0000598	Abnormality of the ear	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0000598	HP:0000598	Abnormality of the ear	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0000598	HP:0000598	Abnormality of the ear	0	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65			271
HP:0000598	HP:0000598	Abnormality of the ear	0	TBC1D24 CL E G H	57465	29203	OMIM:614617	Deafness, autosomal recessive 86			271
HP:0000598	HP:0000598	Abnormality of the ear	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000598	HP:0000598	Abnormality of the ear	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000598	HP:0000598	Abnormality of the ear	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0000598	HP:0000598	Abnormality of the ear	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0000598	HP:0000598	Abnormality of the ear	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0000598	HP:0000598	Abnormality of the ear	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0000598	HP:0000598	Abnormality of the ear	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0000598	HP:0000598	Abnormality of the ear	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000598	HP:0000598	Abnormality of the ear	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000598	HP:0000598	Abnormality of the ear	0	TBL1Y CL E G H	90665	18502	OMIM:400047	DEAFNESS, Y-LINKED 2
HP:0000598	HP:0000598	Abnormality of the ear	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0000598	Abnormality of the ear	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0000598	HP:0000598	Abnormality of the ear	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000598	HP:0000598	Abnormality of the ear	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.		32
HP:0000598	HP:0000598	Abnormality of the ear	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0000598	HP:0000598	Abnormality of the ear	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000598	HP:0000598	Abnormality of the ear	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000598	HP:0000598	Abnormality of the ear	0	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked			28
HP:0000598	HP:0000598	Abnormality of the ear	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0000598	HP:0000598	Abnormality of the ear	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy			78
HP:0000598	HP:0000598	Abnormality of the ear	0	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly			28
HP:0000598	HP:0000598	Abnormality of the ear	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000598	HP:0000598	Abnormality of the ear	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0000598	HP:0000598	Abnormality of the ear	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0000598	HP:0000598	Abnormality of the ear	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0000598	HP:0000598	Abnormality of the ear	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0000598	HP:0000598	Abnormality of the ear	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0000598	Abnormality of the ear	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0000598	Abnormality of the ear	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0000598	HP:0000598	Abnormality of the ear	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0000598	Abnormality of the ear	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0000598	HP:0000598	Abnormality of the ear	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0000598	HP:0000598	Abnormality of the ear	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0000598	HP:0000598	Abnormality of the ear	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0000598	HP:0000598	Abnormality of the ear	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV			31
HP:0000598	HP:0000598	Abnormality of the ear	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional		31
HP:0000598	HP:0000598	Abnormality of the ear	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000598	HP:0000598	Abnormality of the ear	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TECRL CL E G H	253017	27365	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			4
HP:0000598	HP:0000598	Abnormality of the ear	0	TECTA CL E G H	7007	11720	OMIM:601543	Deafness, autosomal dominant nonsyndromic sensorineural 12			222
HP:0000598	HP:0000598	Abnormality of the ear	0	TECTA CL E G H	7007	11720	OMIM:603629	DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21			222
HP:0000598	HP:0000598	Abnormality of the ear	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000598	HP:0000598	Abnormality of the ear	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0000598	HP:0000598	Abnormality of the ear	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000598	HP:0000598	Abnormality of the ear	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0000598	HP:0000598	Abnormality of the ear	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0000598	HP:0000598	Abnormality of the ear	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000598	HP:0000598	Abnormality of the ear	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0000598	HP:0000598	Abnormality of the ear	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000598	HP:0000598	Abnormality of the ear	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000598	HP:0000598	Abnormality of the ear	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0000598	Abnormality of the ear	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0000598	HP:0000598	Abnormality of the ear	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0000598	HP:0000598	Abnormality of the ear	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000598	HP:0000598	Abnormality of the ear	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0000598	HP:0000598	Abnormality of the ear	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0000598	HP:0000598	Abnormality of the ear	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0000598	HP:0000598	Abnormality of the ear	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0000598	HP:0000598	Abnormality of the ear	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000598	HP:0000598	Abnormality of the ear	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000598	HP:0000598	Abnormality of the ear	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000598	HP:0000598	Abnormality of the ear	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000598	HP:0000598	Abnormality of the ear	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000598	HP:0000598	Abnormality of the ear	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			98
HP:0000598	HP:0000598	Abnormality of the ear	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0000598	HP:0000598	Abnormality of the ear	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000598	HP:0000598	Abnormality of the ear	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0000598	HP:0000598	Abnormality of the ear	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0000598	HP:0000598	Abnormality of the ear	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000598	HP:0000598	Abnormality of the ear	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0000598	Abnormality of the ear	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0000598	Abnormality of the ear	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0000598	HP:0000598	Abnormality of the ear	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0000598	HP:0000598	Abnormality of the ear	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0000598	HP:0000598	Abnormality of the ear	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0000598	HP:0000598	Abnormality of the ear	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000598	HP:0000598	Abnormality of the ear	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0000598	HP:0000598	Abnormality of the ear	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0000598	HP:0000598	Abnormality of the ear	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0000598	HP:0000598	Abnormality of the ear	0	TMC1 CL E G H	117531	16513	OMIM:606705	Deafness, autosomal dominant 36			109
HP:0000598	HP:0000598	Abnormality of the ear	0	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7			109
HP:0000598	HP:0000598	Abnormality of the ear	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0000598	HP:0000598	Abnormality of the ear	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM132E CL E G H	124842	26991	OMIM:618481	DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM43 CL E G H	79188	28472	OMIM:619832	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3			171
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome			166
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0000598	HP:0000598	Abnormality of the ear	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TMIE CL E G H	259236	30800	OMIM:600971	Deafness, autosomal recessive 6			39
HP:0000598	HP:0000598	Abnormality of the ear	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy			136
HP:0000598	HP:0000598	Abnormality of the ear	0	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8			111
HP:0000598	HP:0000598	Abnormality of the ear	0	TNC CL E G H	3371	5318	OMIM:615629	Deafness, autosomal dominant 56			9
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis			72
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2			12
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0000598	HP:0000598	Abnormality of the ear	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy			73
HP:0000598	HP:0000598	Abnormality of the ear	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0000598	HP:0000598	Abnormality of the ear	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome			37
HP:0000598	HP:0000598	Abnormality of the ear	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy			180
HP:0000598	HP:0000598	Abnormality of the ear	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0000598	HP:0000598	Abnormality of the ear	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome			43
HP:0000598	HP:0000598	Abnormality of the ear	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000598	HP:0000598	Abnormality of the ear	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000598	HP:0000598	Abnormality of the ear	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0000598	HP:0000598	Abnormality of the ear	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000598	HP:0000598	Abnormality of the ear	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000598	HP:0000598	Abnormality of the ear	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000598	HP:0000598	Abnormality of the ear	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000598	HP:0000598	Abnormality of the ear	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000598	HP:0000598	Abnormality of the ear	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000598	HP:0000598	Abnormality of the ear	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0000598	HP:0000598	Abnormality of the ear	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0000598	HP:0000598	Abnormality of the ear	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0000598	HP:0000598	Abnormality of the ear	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000598	HP:0000598	Abnormality of the ear	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0000598	HP:0000598	Abnormality of the ear	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0000598	HP:0000598	Abnormality of the ear	0	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation			140
HP:0000598	HP:0000598	Abnormality of the ear	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0000598	HP:0000598	Abnormality of the ear	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0000598	HP:0000598	Abnormality of the ear	0	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0000598	HP:0000598	Abnormality of the ear	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0000598	HP:0000598	Abnormality of the ear	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy			230
HP:0000598	HP:0000598	Abnormality of the ear	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0000598	HP:0000598	Abnormality of the ear	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome			54
HP:0000598	HP:0000598	Abnormality of the ear	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0000598	HP:0000598	Abnormality of the ear	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0000598	HP:0000598	Abnormality of the ear	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0000598	HP:0000598	Abnormality of the ear	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000598	HP:0000598	Abnormality of the ear	0	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79			32
HP:0000598	HP:0000598	Abnormality of the ear	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0000598	HP:0000598	Abnormality of the ear	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000598	HP:0000598	Abnormality of the ear	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0000598	HP:0000598	Abnormality of the ear	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0000598	HP:0000598	Abnormality of the ear	0	TRDN CL E G H	10345	12261	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			145
HP:0000598	HP:0000598	Abnormality of the ear	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0000598	HP:0000598	Abnormality of the ear	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0000598	HP:0000598	Abnormality of the ear	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000598	HP:0000598	Abnormality of the ear	0	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28			154
HP:0000598	HP:0000598	Abnormality of the ear	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0000598	HP:0000598	Abnormality of the ear	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	TRMU CL E G H	55687	25481	OMIM:580000	Deafness, aminoglycoside-induced			101
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNS1 CL E G H	4574	7497	OMIM:580000	Deafness, aminoglycoside-induced
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000598	Abnormality of the ear	0	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect			124
HP:0000598	HP:0000598	Abnormality of the ear	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0000598	HP:0000598	Abnormality of the ear	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000598	HP:0000598	Abnormality of the ear	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0000598	HP:0000598	Abnormality of the ear	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0000598	HP:0000598	Abnormality of the ear	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			151
HP:0000598	HP:0000598	Abnormality of the ear	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0000598	HP:0000598	Abnormality of the ear	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0000598	HP:0000598	Abnormality of the ear	0	TRRAP CL E G H	8295	12347	OMIM:618778	DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0000598	HP:0000598	Abnormality of the ear	0	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital			111
HP:0000598	HP:0000598	Abnormality of the ear	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000598	HP:0000598	Abnormality of the ear	0	TSPEAR CL E G H	54084	1268	OMIM:614861	Deafness, autosomal recessive 98			39
HP:0000598	HP:0000598	Abnormality of the ear	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000598	Abnormality of the ear	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0000598	HP:0000598	Abnormality of the ear	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000598	HP:0000598	Abnormality of the ear	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000598	HP:0000598	Abnormality of the ear	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0000598	HP:0000598	Abnormality of the ear	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000598	HP:0000598	Abnormality of the ear	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0000598	HP:0000598	Abnormality of the ear	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0000598	HP:0000598	Abnormality of the ear	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0000598	HP:0000598	Abnormality of the ear	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy			7128
HP:0000598	HP:0000598	Abnormality of the ear	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0000598	HP:0000598	Abnormality of the ear	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0000598	HP:0000598	Abnormality of the ear	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0000598	HP:0000598	Abnormality of the ear	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0000598	HP:0000598	Abnormality of the ear	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000598	HP:0000598	Abnormality of the ear	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0000598	HP:0000598	Abnormality of the ear	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0000598	HP:0000598	Abnormality of the ear	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000598	HP:0000598	Abnormality of the ear	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0000598	HP:0000598	Abnormality of the ear	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000598	HP:0000598	Abnormality of the ear	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0000598	HP:0000598	Abnormality of the ear	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0000598	HP:0000598	Abnormality of the ear	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0000598	HP:0000598	Abnormality of the ear	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000598	HP:0000598	Abnormality of the ear	0	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly			18
HP:0000598	HP:0000598	Abnormality of the ear	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000598	Abnormality of the ear	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000598	Abnormality of the ear	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000598	HP:0000598	Abnormality of the ear	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0000598	HP:0000598	Abnormality of the ear	0	TWNK CL E G H	56652	1160	ORPHA:1186	Infantile-onset spinocerebellar ataxia			113
HP:0000598	HP:0000598	Abnormality of the ear	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)			113
HP:0000598	HP:0000598	Abnormality of the ear	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0000598	HP:0000598	Abnormality of the ear	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000598	HP:0000598	Abnormality of the ear	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0000598	HP:0000598	Abnormality of the ear	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0000598	HP:0000598	Abnormality of the ear	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0000598	HP:0000598	Abnormality of the ear	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy			85
HP:0000598	HP:0000598	Abnormality of the ear	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000598	HP:0000598	Abnormality of the ear	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0000598	HP:0000598	Abnormality of the ear	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0000598	HP:0000598	Abnormality of the ear	0	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0000598	HP:0000598	Abnormality of the ear	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0000598	HP:0000598	Abnormality of the ear	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000598	HP:0000598	Abnormality of the ear	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000598	HP:0000598	Abnormality of the ear	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0000598	HP:0000598	Abnormality of the ear	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0000598	HP:0000598	Abnormality of the ear	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0000598	HP:0000598	Abnormality of the ear	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000598	HP:0000598	Abnormality of the ear	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0000598	HP:0000598	Abnormality of the ear	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0000598	HP:0000598	Abnormality of the ear	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0000598	HP:0000598	Abnormality of the ear	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0000598	HP:0000598	Abnormality of the ear	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000598	HP:0000598	Abnormality of the ear	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000598	HP:0000598	Abnormality of the ear	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0000598	HP:0000598	Abnormality of the ear	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0000598	HP:0000598	Abnormality of the ear	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13			30
HP:0000598	HP:0000598	Abnormality of the ear	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0000598	HP:0000598	Abnormality of the ear	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000598	HP:0000598	Abnormality of the ear	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000598	HP:0000598	Abnormality of the ear	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000598	HP:0000598	Abnormality of the ear	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0000598	HP:0000598	Abnormality of the ear	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0000598	HP:0000598	Abnormality of the ear	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0000598	HP:0000598	Abnormality of the ear	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0000598	HP:0000598	Abnormality of the ear	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	USH1C CL E G H	10083	12597	OMIM:602092	DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A			173
HP:0000598	HP:0000598	Abnormality of the ear	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000598	HP:0000598	Abnormality of the ear	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000598	HP:0000598	Abnormality of the ear	0	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC			173
HP:0000598	HP:0000598	Abnormality of the ear	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000598	HP:0000598	Abnormality of the ear	0	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG			78
HP:0000598	HP:0000598	Abnormality of the ear	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000598	HP:0000598	Abnormality of the ear	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000598	HP:0000598	Abnormality of the ear	0	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA			777
HP:0000598	HP:0000598	Abnormality of the ear	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0000598	HP:0000598	Abnormality of the ear	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0000598	HP:0000598	Abnormality of the ear	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0000598	HP:0000598	Abnormality of the ear	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000598	HP:0000598	Abnormality of the ear	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000598	HP:0000598	Abnormality of the ear	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000598	Abnormality of the ear	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0000598	HP:0000598	Abnormality of the ear	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000598	HP:0000598	Abnormality of the ear	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0000598	HP:0000598	Abnormality of the ear	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0000598	HP:0000598	Abnormality of the ear	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0000598	HP:0000598	Abnormality of the ear	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000598	HP:0000598	Abnormality of the ear	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0000598	HP:0000598	Abnormality of the ear	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0000598	HP:0000598	Abnormality of the ear	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0000598	HP:0000598	Abnormality of the ear	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0000598	HP:0000598	Abnormality of the ear	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0000598	HP:0000598	Abnormality of the ear	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0000598	HP:0000598	Abnormality of the ear	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000598	HP:0000598	Abnormality of the ear	0	VPS33B CL E G H	26276	12712	OMIM:620009				63
HP:0000598	HP:0000598	Abnormality of the ear	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0000598	HP:0000598	Abnormality of the ear	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0000598	HP:0000598	Abnormality of the ear	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000598	HP:0000598	Abnormality of the ear	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000598	HP:0000598	Abnormality of the ear	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0000598	HP:0000598	Abnormality of the ear	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0000598	Abnormality of the ear	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000598	HP:0000598	Abnormality of the ear	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000598	HP:0000598	Abnormality of the ear	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000598	HP:0000598	Abnormality of the ear	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000598	HP:0000598	Abnormality of the ear	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0000598	HP:0000598	Abnormality of the ear	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0000598	HP:0000598	Abnormality of the ear	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000598	HP:0000598	Abnormality of the ear	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0000598	HP:0000598	Abnormality of the ear	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0000598	HP:0000598	Abnormality of the ear	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000598	HP:0000598	Abnormality of the ear	0	WBP2 CL E G H	23558	12738	OMIM:617639	DEAFNESS, AUTOSOMAL RECESSIVE 107; DFNB107			3
HP:0000598	HP:0000598	Abnormality of the ear	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0000598	HP:0000598	Abnormality of the ear	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0000598	HP:0000598	Abnormality of the ear	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0000598	HP:0000598	Abnormality of the ear	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0000598	HP:0000598	Abnormality of the ear	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000598	HP:0000598	Abnormality of the ear	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000598	HP:0000598	Abnormality of the ear	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000598	HP:0000598	Abnormality of the ear	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000598	Abnormality of the ear	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000598	HP:0000598	Abnormality of the ear	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0000598	HP:0000598	Abnormality of the ear	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000598	HP:0000598	Abnormality of the ear	0	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6			389
HP:0000598	HP:0000598	Abnormality of the ear	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0000598	HP:0000598	Abnormality of the ear	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0000598	HP:0000598	Abnormality of the ear	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0000598	HP:0000598	Abnormality of the ear	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000598	HP:0000598	Abnormality of the ear	0	WHRN CL E G H	25861	16361	OMIM:607084	Deafness, autosomal recessive 31			155
HP:0000598	HP:0000598	Abnormality of the ear	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000598	HP:0000598	Abnormality of the ear	0	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID			155
HP:0000598	HP:0000598	Abnormality of the ear	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0000598	HP:0000598	Abnormality of the ear	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000598	HP:0000598	Abnormality of the ear	0	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation			4
HP:0000598	HP:0000598	Abnormality of the ear	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0000598	HP:0000598	Abnormality of the ear	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0000598	HP:0000598	Abnormality of the ear	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0000598	HP:0000598	Abnormality of the ear	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0000598	HP:0000598	Abnormality of the ear	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000598	HP:0000598	Abnormality of the ear	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0000598	HP:0000598	Abnormality of the ear	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0000598	HP:0000598	Abnormality of the ear	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0000598	HP:0000598	Abnormality of the ear	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0000598	HP:0000598	Abnormality of the ear	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0000598	HP:0000598	Abnormality of the ear	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0000598	HP:0000598	Abnormality of the ear	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0000598	HP:0000598	Abnormality of the ear	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0000598	HP:0000598	Abnormality of the ear	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0000598	HP:0000598	Abnormality of the ear	0	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0000598	HP:0000598	Abnormality of the ear	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0000598	HP:0000598	Abnormality of the ear	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0000598	HP:0000598	Abnormality of the ear	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0000598	HP:0000598	Abnormality of the ear	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000598	HP:0000598	Abnormality of the ear	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000598	HP:0000598	Abnormality of the ear	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000598	HP:0000598	Abnormality of the ear	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0000598	HP:0000598	Abnormality of the ear	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0000598	HP:0000598	Abnormality of the ear	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0000598	HP:0000598	Abnormality of the ear	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0000598	HP:0000598	Abnormality of the ear	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0000598	HP:0000598	Abnormality of the ear	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0000598	HP:0000598	Abnormality of the ear	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0000598	HP:0000598	Abnormality of the ear	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000598	HP:0000598	Abnormality of the ear	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0000598	HP:0000598	Abnormality of the ear	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2			9
HP:0000598	HP:0000598	Abnormality of the ear	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000598	HP:0000598	Abnormality of the ear	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000598	HP:0000598	Abnormality of the ear	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0000598	HP:0000598	Abnormality of the ear	0	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0000598	HP:0000598	Abnormality of the ear	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000598	HP:0000598	Abnormality of the ear	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000598	HP:0000598	Abnormality of the ear	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000598	HP:0000598	Abnormality of the ear	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0000598	HP:0000598	Abnormality of the ear	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly			5
HP:0000598	HP:0000598	Abnormality of the ear	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0000598	HP:0000598	Abnormality of the ear	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0000598	HP:0000598	Abnormality of the ear	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0000598	HP:0000598	Abnormality of the ear	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0000598	HP:0000598	Abnormality of the ear	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0000598	HP:0000598	Abnormality of the ear	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0000598	HP:0000598	Abnormality of the ear	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000598	HP:0000598	Abnormality of the ear	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0000598	Abnormality of the ear	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0000598	HP:0000598	Abnormality of the ear	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0000598	HP:0000598	Abnormality of the ear	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0000598	Abnormality of the ear	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0000598	HP:0000598	Abnormality of the ear	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0000598	Abnormality of the ear	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0000598	HP:0000598	Abnormality of the ear	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0000598	HP:0000598	Abnormality of the ear	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0000598	HP:0031703	Abnormal ear morphology	1	A2ML1 CL E G H	144568	23336	OMIM:166760	Otitis media, susceptibility to			120
HP:0000598	HP:0031704	Abnormal ear physiology	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0000598	HP:0031703	Abnormal ear morphology	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000598	HP:0031703	Abnormal ear morphology	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			130
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis			130
HP:0000598	HP:0031703	Abnormal ear morphology	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0000598	HP:0031703	Abnormal ear morphology	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCC1 CL E G H	4363	51	OMIM:618915	DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0031703	Abnormal ear morphology	1	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy			254
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0000598	HP:0031703	Abnormal ear morphology	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000598	HP:0031703	Abnormal ear morphology	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy			208
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20			123
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy			307
HP:0000598	HP:0031703	Abnormal ear morphology	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency			75
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000598	HP:0031704	Abnormal ear physiology	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000598	HP:0031704	Abnormal ear physiology	1	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC			530
HP:0000598	HP:0031704	Abnormal ear physiology	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0000598	HP:0031703	Abnormal ear morphology	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0000598	HP:0031703	Abnormal ear morphology	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000598	HP:0031703	Abnormal ear morphology	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0000598	HP:0031703	Abnormal ear morphology	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0000598	HP:0031703	Abnormal ear morphology	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0000598	HP:0031703	Abnormal ear morphology	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000598	HP:0031704	Abnormal ear physiology	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000598	HP:0031703	Abnormal ear morphology	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0000598	HP:0031703	Abnormal ear morphology	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000598	HP:0031704	Abnormal ear physiology	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000598	HP:0031703	Abnormal ear morphology	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000598	HP:0031703	Abnormal ear morphology	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000598	HP:0031703	Abnormal ear morphology	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000598	HP:0031704	Abnormal ear physiology	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0000598	HP:0031704	Abnormal ear physiology	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000598	HP:0031704	Abnormal ear physiology	1	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0000598	HP:0031703	Abnormal ear morphology	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000598	HP:0031703	Abnormal ear morphology	1	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0000598	HP:0031704	Abnormal ear physiology	1	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0000598	HP:0031704	Abnormal ear physiology	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000598	HP:0031703	Abnormal ear morphology	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			75
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			63
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000598	HP:0031703	Abnormal ear morphology	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0000598	HP:0031703	Abnormal ear morphology	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000598	HP:0031704	Abnormal ear physiology	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000598	HP:0031703	Abnormal ear morphology	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0000598	HP:0031703	Abnormal ear morphology	1	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0000598	HP:0031704	Abnormal ear physiology	1	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0000598	HP:0031703	Abnormal ear morphology	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0000598	HP:0031704	Abnormal ear physiology	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0000598	HP:0031704	Abnormal ear physiology	1	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy			95
HP:0000598	HP:0031703	Abnormal ear morphology	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000598	HP:0031704	Abnormal ear physiology	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000598	HP:0031703	Abnormal ear morphology	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000598	HP:0031703	Abnormal ear morphology	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0000598	HP:0031704	Abnormal ear physiology	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000598	HP:0031703	Abnormal ear morphology	1	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000598	HP:0031704	Abnormal ear physiology	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0000598	HP:0031703	Abnormal ear morphology	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000598	HP:0031703	Abnormal ear morphology	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000598	HP:0031704	Abnormal ear physiology	1	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000598	HP:0031703	Abnormal ear morphology	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0000598	HP:0031704	Abnormal ear physiology	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0000598	HP:0031704	Abnormal ear physiology	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000598	HP:0031703	Abnormal ear morphology	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000598	HP:0031704	Abnormal ear physiology	1	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0000598	HP:0031704	Abnormal ear physiology	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0000598	HP:0031704	Abnormal ear physiology	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0000598	HP:0031703	Abnormal ear morphology	1	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			71
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome			150
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness			67
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000598	HP:0031703	Abnormal ear morphology	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0000598	HP:0031703	Abnormal ear morphology	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0000598	HP:0031703	Abnormal ear morphology	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0000598	HP:0031703	Abnormal ear morphology	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0031703	Abnormal ear morphology	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0031703	Abnormal ear morphology	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000598	HP:0031703	Abnormal ear morphology	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000598	HP:0031703	Abnormal ear morphology	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0000598	HP:0031703	Abnormal ear morphology	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy			204
HP:0000598	HP:0031704	Abnormal ear physiology	1	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0031703	Abnormal ear morphology	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000598	HP:0031704	Abnormal ear physiology	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000598	HP:0031703	Abnormal ear morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0000598	HP:0031704	Abnormal ear physiology	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0000598	HP:0031704	Abnormal ear physiology	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000598	HP:0031703	Abnormal ear morphology	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000598	HP:0031704	Abnormal ear physiology	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000598	HP:0031703	Abnormal ear morphology	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0000598	HP:0031704	Abnormal ear physiology	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0000598	HP:0031703	Abnormal ear morphology	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0000598	HP:0031704	Abnormal ear physiology	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0000598	HP:0031703	Abnormal ear morphology	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0000598	HP:0031704	Abnormal ear physiology	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0000598	HP:0031703	Abnormal ear morphology	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000598	HP:0031704	Abnormal ear physiology	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000598	HP:0031703	Abnormal ear morphology	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0000598	HP:0031704	Abnormal ear physiology	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0000598	HP:0031703	Abnormal ear morphology	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0000598	HP:0031704	Abnormal ear physiology	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0000598	HP:0031703	Abnormal ear morphology	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0000598	HP:0031704	Abnormal ear physiology	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0000598	HP:0031703	Abnormal ear morphology	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000598	HP:0031703	Abnormal ear morphology	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000598	HP:0031703	Abnormal ear morphology	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0000598	HP:0031703	Abnormal ear morphology	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	BDP1 CL E G H	55814	13652	OMIM:618257	Deafness, autosomal recessive 112			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000598	HP:0031704	Abnormal ear physiology	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000598	HP:0031703	Abnormal ear morphology	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0000598	HP:0031703	Abnormal ear morphology	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0000598	HP:0031703	Abnormal ear morphology	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0000598	HP:0031703	Abnormal ear morphology	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0000598	HP:0031703	Abnormal ear morphology	1	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0000598	HP:0031703	Abnormal ear morphology	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0000598	HP:0031704	Abnormal ear physiology	1	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0000598	HP:0031704	Abnormal ear physiology	1	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0000598	HP:0031703	Abnormal ear morphology	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000598	HP:0031704	Abnormal ear physiology	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000598	HP:0031704	Abnormal ear physiology	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0031704	Abnormal ear physiology	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0000598	HP:0031704	Abnormal ear physiology	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0000598	HP:0031704	Abnormal ear physiology	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0000598	HP:0031704	Abnormal ear physiology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0000598	HP:0031704	Abnormal ear physiology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0000598	HP:0031704	Abnormal ear physiology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0000598	HP:0031703	Abnormal ear morphology	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0000598	HP:0031704	Abnormal ear physiology	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0000598	HP:0031704	Abnormal ear physiology	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0000598	HP:0031703	Abnormal ear morphology	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0000598	HP:0031704	Abnormal ear physiology	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0000598	HP:0031703	Abnormal ear morphology	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0000598	HP:0031704	Abnormal ear physiology	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0000598	HP:0031703	Abnormal ear morphology	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0000598	HP:0031704	Abnormal ear physiology	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0000598	HP:0031704	Abnormal ear physiology	1	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0000598	HP:0031704	Abnormal ear physiology	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0000598	HP:0031703	Abnormal ear morphology	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0000598	HP:0031703	Abnormal ear morphology	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000598	HP:0031703	Abnormal ear morphology	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0000598	HP:0031703	Abnormal ear morphology	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000598	HP:0031704	Abnormal ear physiology	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000598	HP:0031703	Abnormal ear morphology	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	CABP2 CL E G H	51475	1385	OMIM:614899	Deafness, autosomal recessive 93			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy			449
HP:0000598	HP:0031704	Abnormal ear physiology	1	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000598	HP:0031704	Abnormal ear physiology	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000598	HP:0031704	Abnormal ear physiology	1	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia			449
HP:0000598	HP:0031704	Abnormal ear physiology	1	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6			449
HP:0000598	HP:0031703	Abnormal ear morphology	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0000598	HP:0031704	Abnormal ear physiology	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	CACNA1D CL E G H	776	1391	OMIM:614896	Sinoatrial node dysfunction and deafness			51
HP:0000598	HP:0031703	Abnormal ear morphology	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0000598	HP:0031704	Abnormal ear physiology	1	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5			146
HP:0000598	HP:0031704	Abnormal ear physiology	1	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5			146
HP:0000598	HP:0031704	Abnormal ear physiology	1	CALM1 CL E G H	801	1442	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	CALM2 CL E G H	805	1445	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	CALM3 CL E G H	808	1449	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0000598	HP:0031704	Abnormal ear physiology	1	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0031703	Abnormal ear morphology	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000598	HP:0031703	Abnormal ear morphology	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0031704	Abnormal ear physiology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0031704	Abnormal ear physiology	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0000598	HP:0031704	Abnormal ear physiology	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0000598	HP:0031704	Abnormal ear physiology	1	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0000598	HP:0031703	Abnormal ear morphology	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000598	HP:0031704	Abnormal ear physiology	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000598	HP:0031703	Abnormal ear morphology	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000598	HP:0031704	Abnormal ear physiology	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000598	HP:0031704	Abnormal ear physiology	1	CASQ2 CL E G H	845	1513	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			129
HP:0000598	HP:0031703	Abnormal ear morphology	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0031704	Abnormal ear physiology	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0031703	Abnormal ear morphology	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0000598	HP:0031703	Abnormal ear morphology	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000598	HP:0031703	Abnormal ear morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000598	HP:0031703	Abnormal ear morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCDC50 CL E G H	152137	18111	OMIM:607453	DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44			35
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000598	HP:0031704	Abnormal ear physiology	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000598	HP:0031704	Abnormal ear physiology	1	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18			24
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17			19
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0000598	HP:0031703	Abnormal ear morphology	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12			636
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDH23 CL E G H	64072	13733	OMIM:601067	Usher syndrome, type ID			636
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome			114
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000598	HP:0031704	Abnormal ear physiology	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000598	HP:0031703	Abnormal ear morphology	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0000598	HP:0031704	Abnormal ear physiology	1	CEACAM16 CL E G H	388551	31948	OMIM:614614	Deafness, autosomal dominant 4B			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	CEACAM16 CL E G H	388551	31948	OMIM:618410	DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0031704	Abnormal ear physiology	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0000598	HP:0031703	Abnormal ear morphology	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0000598	HP:0031703	Abnormal ear morphology	1	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0000598	HP:0031704	Abnormal ear physiology	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000598	HP:0031704	Abnormal ear physiology	1	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000598	HP:0031704	Abnormal ear physiology	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000598	HP:0031704	Abnormal ear physiology	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0000598	HP:0031703	Abnormal ear morphology	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031703	Abnormal ear morphology	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0000598	HP:0031703	Abnormal ear morphology	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031703	Abnormal ear morphology	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0000598	HP:0031704	Abnormal ear physiology	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0000598	HP:0031703	Abnormal ear morphology	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031703	Abnormal ear morphology	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0031704	Abnormal ear physiology	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0031703	Abnormal ear morphology	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000598	HP:0031703	Abnormal ear morphology	1	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000598	HP:0031703	Abnormal ear morphology	1	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia			515
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0000598	HP:0031703	Abnormal ear morphology	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000598	HP:0031704	Abnormal ear physiology	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0031703	Abnormal ear morphology	1	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II			44
HP:0000598	HP:0031703	Abnormal ear morphology	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0000598	HP:0031703	Abnormal ear morphology	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLDN14 CL E G H	23562	2035	OMIM:614035	Deafness, autosomal recessive 29			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLDN9 CL E G H	9080	2051	OMIM:619093	DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116
HP:0000598	HP:0031703	Abnormal ear morphology	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLRN2 CL E G H	645104	33939	OMIM:619174	DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117
HP:0000598	HP:0031703	Abnormal ear morphology	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000598	HP:0031704	Abnormal ear physiology	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000598	HP:0031703	Abnormal ear morphology	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000598	HP:0031704	Abnormal ear physiology	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000598	HP:0031704	Abnormal ear physiology	1	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal			47
HP:0000598	HP:0031703	Abnormal ear morphology	1	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0031704	Abnormal ear physiology	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0031703	Abnormal ear morphology	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0000598	HP:0031703	Abnormal ear morphology	1	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0031704	Abnormal ear physiology	1	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0031704	Abnormal ear physiology	1	COCH CL E G H	1690	2180	OMIM:618094	Deafness, autosomal recessive 110			46
HP:0000598	HP:0031703	Abnormal ear morphology	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000598	HP:0031703	Abnormal ear morphology	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000598	HP:0031704	Abnormal ear physiology	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000598	HP:0031703	Abnormal ear morphology	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000598	HP:0031704	Abnormal ear physiology	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000598	HP:0031704	Abnormal ear physiology	1	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0000598	HP:0031703	Abnormal ear morphology	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0000598	HP:0031704	Abnormal ear physiology	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A1 CL E G H	1301	2186	OMIM:618533	DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37			215
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A1 CL E G H	1301	2186	ORPHA:90654	Stickler syndrome type 2			215
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II			215
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A2 CL E G H	1302	2187	OMIM:601868	Deafness, autosomal dominant nonsyndromic sensorineural 13			222
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A2 CL E G H	1302	2187	OMIM:609706	Deafness, autosomal recessive 53			222
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III			222
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			284
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL2A1 CL E G H	1280	2200	OMIM:609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR			284
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant			161
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive			161
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive			174
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked			678
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0000598	HP:0031703	Abnormal ear morphology	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V			110
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0000598	HP:0031704	Abnormal ear physiology	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0000598	HP:0031703	Abnormal ear morphology	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0000598	HP:0031704	Abnormal ear physiology	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000598	HP:0031704	Abnormal ear physiology	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0000598	HP:0031704	Abnormal ear physiology	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000598	HP:0031704	Abnormal ear physiology	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031703	Abnormal ear morphology	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000598	HP:0031703	Abnormal ear morphology	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0031704	Abnormal ear physiology	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0031703	Abnormal ear morphology	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000598	HP:0031704	Abnormal ear physiology	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000598	HP:0031703	Abnormal ear morphology	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0000598	HP:0031703	Abnormal ear morphology	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0000598	HP:0031703	Abnormal ear morphology	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0000598	HP:0031703	Abnormal ear morphology	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000598	HP:0031704	Abnormal ear physiology	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000598	HP:0031703	Abnormal ear morphology	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0031704	Abnormal ear physiology	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0031703	Abnormal ear morphology	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000598	HP:0031704	Abnormal ear physiology	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000598	HP:0031703	Abnormal ear morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0000598	HP:0031704	Abnormal ear physiology	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0000598	HP:0031703	Abnormal ear morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000598	HP:0031704	Abnormal ear physiology	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000598	HP:0031703	Abnormal ear morphology	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0000598	HP:0031703	Abnormal ear morphology	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000598	HP:0031703	Abnormal ear morphology	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0000598	HP:0031703	Abnormal ear morphology	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000598	HP:0031704	Abnormal ear physiology	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000598	HP:0031704	Abnormal ear physiology	1	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy			46
HP:0000598	HP:0031704	Abnormal ear physiology	1	CRYM CL E G H	1428	2418	OMIM:616357	DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0000598	HP:0031703	Abnormal ear morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000598	HP:0031703	Abnormal ear morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy			104
HP:0000598	HP:0031703	Abnormal ear morphology	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0000598	HP:0031703	Abnormal ear morphology	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000598	HP:0031704	Abnormal ear physiology	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0000598	HP:0031704	Abnormal ear physiology	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0000598	HP:0031703	Abnormal ear morphology	1	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0000598	HP:0031703	Abnormal ear morphology	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0000598	HP:0031703	Abnormal ear morphology	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0000598	HP:0031703	Abnormal ear morphology	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0000598	HP:0031703	Abnormal ear morphology	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0000598	HP:0031704	Abnormal ear physiology	1	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I			112
HP:0000598	HP:0031704	Abnormal ear physiology	1	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I			73
HP:0000598	HP:0031703	Abnormal ear morphology	1	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0000598	HP:0031704	Abnormal ear physiology	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0000598	HP:0031703	Abnormal ear morphology	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0031703	Abnormal ear morphology	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0031704	Abnormal ear physiology	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0031704	Abnormal ear physiology	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0031704	Abnormal ear physiology	1	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	DCDC2 CL E G H	51473	18141	OMIM:610212	Deafness, autosomal recessive 66			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency			94
HP:0000598	HP:0031703	Abnormal ear morphology	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0000598	HP:0031703	Abnormal ear morphology	1	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0031703	Abnormal ear morphology	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000598	HP:0031704	Abnormal ear physiology	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0000598	HP:0031703	Abnormal ear morphology	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome			57
HP:0000598	HP:0031703	Abnormal ear morphology	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000598	HP:0031703	Abnormal ear morphology	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy			263
HP:0000598	HP:0031704	Abnormal ear physiology	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0000598	HP:0031703	Abnormal ear morphology	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000598	HP:0031703	Abnormal ear morphology	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0000598	HP:0031703	Abnormal ear morphology	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0031703	Abnormal ear morphology	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0031704	Abnormal ear physiology	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0031704	Abnormal ear physiology	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0031703	Abnormal ear morphology	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000598	HP:0031703	Abnormal ear morphology	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0031703	Abnormal ear morphology	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0031703	Abnormal ear morphology	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000598	HP:0031703	Abnormal ear morphology	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0031703	Abnormal ear morphology	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1			118
HP:0000598	HP:0031703	Abnormal ear morphology	1	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0000598	HP:0031703	Abnormal ear morphology	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0000598	HP:0031704	Abnormal ear physiology	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0000598	HP:0031703	Abnormal ear morphology	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0000598	HP:0031704	Abnormal ear physiology	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0000598	HP:0031703	Abnormal ear morphology	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0031704	Abnormal ear physiology	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0031703	Abnormal ear morphology	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0031704	Abnormal ear physiology	1	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy			1496
HP:0000598	HP:0031704	Abnormal ear physiology	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13			116
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18			62
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0000598	HP:0031704	Abnormal ear physiology	1	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0000598	HP:0031703	Abnormal ear morphology	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0000598	HP:0031703	Abnormal ear morphology	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency			217
HP:0000598	HP:0031703	Abnormal ear morphology	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive			217
HP:0000598	HP:0031703	Abnormal ear morphology	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0000598	HP:0031704	Abnormal ear physiology	1	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy			55
HP:0000598	HP:0031703	Abnormal ear morphology	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000598	HP:0031704	Abnormal ear physiology	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000598	HP:0031703	Abnormal ear morphology	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000598	HP:0031703	Abnormal ear morphology	1	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0000598	HP:0031703	Abnormal ear morphology	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000598	HP:0031703	Abnormal ear morphology	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000598	HP:0031703	Abnormal ear morphology	1	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0000598	HP:0031703	Abnormal ear morphology	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0000598	HP:0031704	Abnormal ear physiology	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0000598	HP:0031703	Abnormal ear morphology	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy			358
HP:0000598	HP:0031704	Abnormal ear physiology	1	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy			747
HP:0000598	HP:0031703	Abnormal ear morphology	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0000598	HP:0031704	Abnormal ear physiology	1	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0000598	HP:0031704	Abnormal ear physiology	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000598	HP:0031704	Abnormal ear physiology	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0000598	HP:0031704	Abnormal ear physiology	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0000598	HP:0031703	Abnormal ear morphology	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000598	HP:0031704	Abnormal ear physiology	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000598	HP:0031703	Abnormal ear morphology	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000598	HP:0031703	Abnormal ear morphology	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0000598	HP:0031703	Abnormal ear morphology	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0000598	HP:0031703	Abnormal ear morphology	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0000598	HP:0031703	Abnormal ear morphology	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0000598	HP:0031703	Abnormal ear morphology	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000598	HP:0031703	Abnormal ear morphology	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	EDN1 CL E G H	1906	3176	OMIM:612798	Question mark ears, isolated			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0000598	HP:0031703	Abnormal ear morphology	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0000598	HP:0031703	Abnormal ear morphology	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0000598	HP:0031704	Abnormal ear physiology	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0000598	HP:0031704	Abnormal ear physiology	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0000598	HP:0031703	Abnormal ear morphology	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0000598	HP:0031704	Abnormal ear physiology	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0000598	HP:0031703	Abnormal ear morphology	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000598	HP:0031704	Abnormal ear physiology	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000598	HP:0031703	Abnormal ear morphology	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0000598	HP:0031703	Abnormal ear morphology	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0000598	HP:0031703	Abnormal ear morphology	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	ELMOD3 CL E G H	84173	26158	OMIM:619500	DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0000598	HP:0031703	Abnormal ear morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0031704	Abnormal ear physiology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0031703	Abnormal ear morphology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0031704	Abnormal ear physiology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0031704	Abnormal ear physiology	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000598	HP:0031703	Abnormal ear morphology	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0000598	HP:0031703	Abnormal ear morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0031704	Abnormal ear physiology	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0031703	Abnormal ear morphology	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000598	HP:0031704	Abnormal ear physiology	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000598	HP:0031703	Abnormal ear morphology	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000598	HP:0031704	Abnormal ear physiology	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000598	HP:0031703	Abnormal ear morphology	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0000598	HP:0031703	Abnormal ear morphology	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000598	HP:0031704	Abnormal ear physiology	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000598	HP:0031703	Abnormal ear morphology	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0000598	HP:0031704	Abnormal ear physiology	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0000598	HP:0031704	Abnormal ear physiology	1	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0000598	HP:0031703	Abnormal ear morphology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia			43
HP:0000598	HP:0031704	Abnormal ear physiology	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000598	HP:0031704	Abnormal ear physiology	1	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0031704	Abnormal ear physiology	1	EPS8 CL E G H	2059	3420	OMIM:615974	Deafness, autosomal recessive 102			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	EPS8L2 CL E G H	64787	21296	OMIM:617637	DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2			77
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000598	HP:0031703	Abnormal ear morphology	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0000598	HP:0031703	Abnormal ear morphology	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0000598	HP:0031704	Abnormal ear physiology	1	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0031704	Abnormal ear physiology	1	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0031704	Abnormal ear physiology	1	ESRRB CL E G H	2103	3473	OMIM:608565	DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35			78
HP:0000598	HP:0031703	Abnormal ear morphology	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0000598	HP:0031703	Abnormal ear morphology	1	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0000598	HP:0031703	Abnormal ear morphology	1	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0000598	HP:0031703	Abnormal ear morphology	1	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0000598	HP:0031703	Abnormal ear morphology	1	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0000598	HP:0031703	Abnormal ear morphology	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000598	HP:0031703	Abnormal ear morphology	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000598	HP:0031704	Abnormal ear physiology	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000598	HP:0031704	Abnormal ear physiology	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000598	HP:0031703	Abnormal ear morphology	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000598	HP:0031704	Abnormal ear physiology	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000598	HP:0031703	Abnormal ear morphology	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0000598	HP:0031703	Abnormal ear morphology	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0031704	Abnormal ear physiology	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0000598	HP:0031704	Abnormal ear physiology	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0031704	Abnormal ear physiology	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0031704	Abnormal ear physiology	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0031704	Abnormal ear physiology	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0000598	HP:0031704	Abnormal ear physiology	1	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0031704	Abnormal ear physiology	1	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0000598	HP:0031704	Abnormal ear physiology	1	EYA4 CL E G H	2070	3522	OMIM:601316	Deafness, autosomal dominant nonsyndromic sensorineural 10			111
HP:0000598	HP:0031703	Abnormal ear morphology	1	EYA4 CL E G H	2070	3522	ORPHA:217622	Sensorineural deafness with dilated cardiomyopathy			111
HP:0000598	HP:0031704	Abnormal ear physiology	1	EYA4 CL E G H	2070	3522	ORPHA:217622	Sensorineural deafness with dilated cardiomyopathy			111
HP:0000598	HP:0031703	Abnormal ear morphology	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000598	HP:0031704	Abnormal ear physiology	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000598	HP:0031703	Abnormal ear morphology	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0000598	HP:0031703	Abnormal ear morphology	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0000598	HP:0031704	Abnormal ear physiology	1	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000598	HP:0031703	Abnormal ear morphology	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0031704	Abnormal ear physiology	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0031703	Abnormal ear morphology	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000598	HP:0031704	Abnormal ear physiology	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000598	HP:0031703	Abnormal ear morphology	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0000598	HP:0031703	Abnormal ear morphology	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0031704	Abnormal ear physiology	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0000598	HP:0031704	Abnormal ear physiology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0000598	HP:0031704	Abnormal ear physiology	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0000598	HP:0031703	Abnormal ear morphology	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0000598	HP:0031704	Abnormal ear physiology	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0000598	HP:0031703	Abnormal ear morphology	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000598	HP:0031704	Abnormal ear physiology	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000598	HP:0031703	Abnormal ear morphology	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0000598	HP:0031704	Abnormal ear physiology	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0000598	HP:0031703	Abnormal ear morphology	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0031704	Abnormal ear physiology	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0031703	Abnormal ear morphology	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0000598	HP:0031703	Abnormal ear morphology	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0000598	HP:0031703	Abnormal ear morphology	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000598	HP:0031704	Abnormal ear physiology	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000598	HP:0031704	Abnormal ear physiology	1	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0000598	HP:0031703	Abnormal ear morphology	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000598	HP:0031703	Abnormal ear morphology	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0000598	HP:0031703	Abnormal ear morphology	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0000598	HP:0031703	Abnormal ear morphology	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0000598	HP:0031703	Abnormal ear morphology	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000598	HP:0031704	Abnormal ear physiology	1	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0031704	Abnormal ear physiology	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0031703	Abnormal ear morphology	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000598	HP:0031704	Abnormal ear physiology	1	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy
HP:0000598	HP:0031704	Abnormal ear physiology	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome			75
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome			75
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome			172
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1			172
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1			172
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1			175
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000598	HP:0031704	Abnormal ear physiology	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000598	HP:0031703	Abnormal ear morphology	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy			36
HP:0000598	HP:0031703	Abnormal ear morphology	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0000598	HP:0031703	Abnormal ear morphology	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0000598	HP:0031703	Abnormal ear morphology	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0031704	Abnormal ear physiology	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0000598	HP:0031704	Abnormal ear physiology	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0031704	Abnormal ear physiology	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0000598	HP:0031703	Abnormal ear morphology	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000598	HP:0031703	Abnormal ear morphology	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0000598	HP:0031704	Abnormal ear physiology	1	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy			184
HP:0000598	HP:0031703	Abnormal ear morphology	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000598	HP:0031703	Abnormal ear morphology	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked			493
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1			493
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0000598	HP:0031703	Abnormal ear morphology	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0000598	HP:0031703	Abnormal ear morphology	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0000598	HP:0031703	Abnormal ear morphology	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0000598	HP:0031703	Abnormal ear morphology	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000598	HP:0031704	Abnormal ear physiology	1	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome			63
HP:0000598	HP:0031704	Abnormal ear physiology	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0000598	HP:0031703	Abnormal ear morphology	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0000598	HP:0031703	Abnormal ear morphology	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0000598	HP:0031703	Abnormal ear morphology	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0000598	HP:0031704	Abnormal ear physiology	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031703	Abnormal ear morphology	1	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0000598	HP:0031703	Abnormal ear morphology	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000598	HP:0031703	Abnormal ear morphology	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0000598	HP:0031703	Abnormal ear morphology	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0000598	HP:0031704	Abnormal ear physiology	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0000598	HP:0031703	Abnormal ear morphology	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000598	HP:0031703	Abnormal ear morphology	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000598	HP:0031704	Abnormal ear physiology	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000598	HP:0031704	Abnormal ear physiology	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000598	HP:0031703	Abnormal ear morphology	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0000598	HP:0031703	Abnormal ear morphology	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000598	HP:0031704	Abnormal ear physiology	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000598	HP:0031704	Abnormal ear physiology	1	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000598	HP:0031704	Abnormal ear physiology	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000598	HP:0031704	Abnormal ear physiology	1	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0000598	HP:0031704	Abnormal ear physiology	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0000598	HP:0031703	Abnormal ear morphology	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0000598	HP:0031704	Abnormal ear physiology	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0000598	HP:0031704	Abnormal ear physiology	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0000598	HP:0031704	Abnormal ear physiology	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0000598	HP:0031703	Abnormal ear morphology	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0000598	HP:0031704	Abnormal ear physiology	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0000598	HP:0031704	Abnormal ear physiology	1	GAB1 CL E G H	2549	4066	OMIM:605428	Deafness, autosomal recessive 26			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000598	HP:0031704	Abnormal ear physiology	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0000598	HP:0031704	Abnormal ear physiology	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0000598	HP:0031704	Abnormal ear physiology	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0000598	HP:0031704	Abnormal ear physiology	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0000598	HP:0031703	Abnormal ear morphology	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0031704	Abnormal ear physiology	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0031704	Abnormal ear physiology	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0000598	HP:0031703	Abnormal ear morphology	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000598	HP:0031704	Abnormal ear physiology	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000598	HP:0031703	Abnormal ear morphology	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0000598	HP:0031704	Abnormal ear physiology	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0000598	HP:0031704	Abnormal ear physiology	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000598	HP:0031704	Abnormal ear physiology	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0000598	HP:0031703	Abnormal ear morphology	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0000598	HP:0031704	Abnormal ear physiology	1	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy			35
HP:0000598	HP:0031704	Abnormal ear physiology	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0000598	HP:0031704	Abnormal ear physiology	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000598	HP:0031703	Abnormal ear morphology	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000598	HP:0031704	Abnormal ear physiology	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0000598	HP:0031704	Abnormal ear physiology	1	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0000598	HP:0031704	Abnormal ear physiology	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000598	HP:0031704	Abnormal ear physiology	1	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome			52
HP:0000598	HP:0031704	Abnormal ear physiology	1	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome			52
HP:0000598	HP:0031704	Abnormal ear physiology	1	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0000598	HP:0031704	Abnormal ear physiology	1	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0000598	HP:0031703	Abnormal ear morphology	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0031704	Abnormal ear physiology	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0031704	Abnormal ear physiology	1	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0000598	HP:0031703	Abnormal ear morphology	1	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4			64
HP:0000598	HP:0031704	Abnormal ear physiology	1	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000598	HP:0031704	Abnormal ear physiology	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0031704	Abnormal ear physiology	1	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1			107
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB2 CL E G H	2706	4284	OMIM:601544	Deafness, autosomal dominant nonsyndromic sensorineural 3			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A			199
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB2 CL E G H	2706	4284	OMIM:148350	Keratoderma, palmoplantar, with deafness			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness			199
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome			199
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB3 CL E G H	2707	4285	OMIM:612644	Deafness, autosomal dominant 2B			74
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A			74
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB6 CL E G H	10804	4288	OMIM:612643	Deafness, autosomal dominant 3B			56
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A			56
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB6 CL E G H	10804	4288	OMIM:612645	Deafness, autosomal recessive 1B			56
HP:0000598	HP:0031703	Abnormal ear morphology	1	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0000598	HP:0031703	Abnormal ear morphology	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000598	HP:0031704	Abnormal ear physiology	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000598	HP:0031704	Abnormal ear physiology	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0000598	HP:0031703	Abnormal ear morphology	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0000598	HP:0031703	Abnormal ear morphology	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000598	HP:0031704	Abnormal ear physiology	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0000598	HP:0031704	Abnormal ear physiology	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0000598	HP:0031704	Abnormal ear physiology	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0000598	HP:0031704	Abnormal ear physiology	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0000598	HP:0031703	Abnormal ear morphology	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000598	HP:0031703	Abnormal ear morphology	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0000598	HP:0031703	Abnormal ear morphology	1	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV			270
HP:0000598	HP:0031704	Abnormal ear physiology	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0000598	HP:0031703	Abnormal ear morphology	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000598	HP:0031704	Abnormal ear physiology	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000598	HP:0031703	Abnormal ear morphology	1	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000598	HP:0031703	Abnormal ear morphology	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000598	HP:0031704	Abnormal ear physiology	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0000598	HP:0031704	Abnormal ear physiology	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0000598	HP:0031704	Abnormal ear physiology	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0000598	HP:0031704	Abnormal ear physiology	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0000598	HP:0031703	Abnormal ear morphology	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000598	HP:0031703	Abnormal ear morphology	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0000598	HP:0031703	Abnormal ear morphology	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0000598	HP:0031703	Abnormal ear morphology	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0000598	HP:0031703	Abnormal ear morphology	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0000598	HP:0031704	Abnormal ear physiology	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0000598	HP:0031704	Abnormal ear physiology	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0000598	HP:0031703	Abnormal ear morphology	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000598	HP:0031704	Abnormal ear physiology	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000598	HP:0031703	Abnormal ear morphology	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000598	HP:0031704	Abnormal ear physiology	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0000598	HP:0031703	Abnormal ear morphology	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000598	HP:0031704	Abnormal ear physiology	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000598	HP:0031703	Abnormal ear morphology	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000598	HP:0031704	Abnormal ear physiology	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000598	HP:0031703	Abnormal ear morphology	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0000598	HP:0031703	Abnormal ear morphology	1	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7
HP:0000598	HP:0031704	Abnormal ear physiology	1	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0000598	HP:0031703	Abnormal ear morphology	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	GRAP CL E G H	10750	4562	OMIM:618456	Deafness, autosomal recessive 114
HP:0000598	HP:0031703	Abnormal ear morphology	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000598	HP:0031703	Abnormal ear morphology	1	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0031704	Abnormal ear physiology	1	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0031703	Abnormal ear morphology	1	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0000598	HP:0031704	Abnormal ear physiology	1	GRHL2 CL E G H	79977	2799	OMIM:608641	Deafness, autosomal dominant nonsyndromic sensorineural 28			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0000598	HP:0031703	Abnormal ear morphology	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000598	HP:0031704	Abnormal ear physiology	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000598	HP:0031704	Abnormal ear physiology	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000598	HP:0031704	Abnormal ear physiology	1	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5			87
HP:0000598	HP:0031704	Abnormal ear physiology	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0000598	HP:0031704	Abnormal ear physiology	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000598	HP:0031703	Abnormal ear morphology	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0000598	HP:0031703	Abnormal ear morphology	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000598	HP:0031704	Abnormal ear physiology	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000598	HP:0031703	Abnormal ear morphology	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000598	HP:0031703	Abnormal ear morphology	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0031704	Abnormal ear physiology	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0031703	Abnormal ear morphology	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000598	HP:0031704	Abnormal ear physiology	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000598	HP:0031703	Abnormal ear morphology	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0031704	Abnormal ear physiology	1	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0031704	Abnormal ear physiology	1	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0000598	HP:0031704	Abnormal ear physiology	1	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2			29
HP:0000598	HP:0031703	Abnormal ear morphology	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0000598	HP:0031703	Abnormal ear morphology	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0000598	HP:0031703	Abnormal ear morphology	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000598	HP:0031703	Abnormal ear morphology	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000598	HP:0031703	Abnormal ear morphology	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0000598	HP:0031704	Abnormal ear physiology	1	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0000598	HP:0031703	Abnormal ear morphology	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000598	HP:0031703	Abnormal ear morphology	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0031704	Abnormal ear physiology	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0031703	Abnormal ear morphology	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0000598	HP:0031704	Abnormal ear physiology	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0000598	HP:0031703	Abnormal ear morphology	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000598	HP:0031703	Abnormal ear morphology	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	HOMER2 CL E G H	9455	17513	OMIM:616707	DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	HOXA11 CL E G H	3207	5101	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0000598	HP:0031703	Abnormal ear morphology	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0000598	HP:0031703	Abnormal ear morphology	1	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000598	HP:0031703	Abnormal ear morphology	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0031704	Abnormal ear physiology	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0031704	Abnormal ear physiology	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0000598	HP:0031704	Abnormal ear physiology	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0000598	HP:0031703	Abnormal ear morphology	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0000598	HP:0031703	Abnormal ear morphology	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13			46
HP:0000598	HP:0031703	Abnormal ear morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0031704	Abnormal ear physiology	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0031703	Abnormal ear morphology	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0000598	HP:0031703	Abnormal ear morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0000598	HP:0031703	Abnormal ear morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000598	HP:0031703	Abnormal ear morphology	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0000598	HP:0031704	Abnormal ear physiology	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000598	HP:0031703	Abnormal ear morphology	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0000598	HP:0031703	Abnormal ear morphology	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0000598	HP:0031703	Abnormal ear morphology	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0000598	HP:0031703	Abnormal ear morphology	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000598	HP:0031704	Abnormal ear physiology	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000598	HP:0031704	Abnormal ear physiology	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0000598	HP:0031704	Abnormal ear physiology	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0000598	HP:0031704	Abnormal ear physiology	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0031704	Abnormal ear physiology	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0031703	Abnormal ear morphology	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0031703	Abnormal ear morphology	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000598	HP:0031703	Abnormal ear morphology	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000598	HP:0031703	Abnormal ear morphology	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0000598	HP:0031703	Abnormal ear morphology	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0000598	HP:0031704	Abnormal ear physiology	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0000598	HP:0031704	Abnormal ear physiology	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0000598	HP:0031704	Abnormal ear physiology	1	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0000598	HP:0031704	Abnormal ear physiology	1	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome			115
HP:0000598	HP:0031703	Abnormal ear morphology	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0000598	HP:0031704	Abnormal ear physiology	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0000598	HP:0031704	Abnormal ear physiology	1	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0000598	HP:0031703	Abnormal ear morphology	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000598	HP:0031704	Abnormal ear physiology	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000598	HP:0031703	Abnormal ear morphology	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000598	HP:0031703	Abnormal ear morphology	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0000598	HP:0031704	Abnormal ear physiology	1	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0000598	HP:0031704	Abnormal ear physiology	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000598	HP:0031704	Abnormal ear physiology	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000598	HP:0031703	Abnormal ear morphology	1	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51			196
HP:0000598	HP:0031704	Abnormal ear physiology	1	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0000598	HP:0031703	Abnormal ear morphology	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0000598	HP:0031703	Abnormal ear morphology	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000598	HP:0031703	Abnormal ear morphology	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000598	HP:0031703	Abnormal ear morphology	1	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive			94
HP:0000598	HP:0031704	Abnormal ear physiology	1	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42			42
HP:0000598	HP:0031704	Abnormal ear physiology	1	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0000598	HP:0031703	Abnormal ear morphology	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000598	HP:0031704	Abnormal ear physiology	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000598	HP:0031704	Abnormal ear physiology	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000598	HP:0031704	Abnormal ear physiology	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000598	HP:0031703	Abnormal ear morphology	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0000598	HP:0031703	Abnormal ear morphology	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000598	HP:0031703	Abnormal ear morphology	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000598	HP:0031703	Abnormal ear morphology	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000598	HP:0031703	Abnormal ear morphology	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0000598	HP:0031703	Abnormal ear morphology	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0000598	HP:0031703	Abnormal ear morphology	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0000598	HP:0031703	Abnormal ear morphology	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0000598	HP:0031703	Abnormal ear morphology	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000598	HP:0031703	Abnormal ear morphology	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000598	HP:0031704	Abnormal ear physiology	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000598	HP:0031703	Abnormal ear morphology	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000598	HP:0031703	Abnormal ear morphology	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0000598	HP:0031703	Abnormal ear morphology	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0000598	HP:0031703	Abnormal ear morphology	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000598	HP:0031704	Abnormal ear physiology	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000598	HP:0031703	Abnormal ear morphology	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0000598	HP:0031704	Abnormal ear physiology	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0000598	HP:0031704	Abnormal ear physiology	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0000598	HP:0031703	Abnormal ear morphology	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0000598	HP:0031704	Abnormal ear physiology	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0000598	HP:0031703	Abnormal ear morphology	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0000598	HP:0031704	Abnormal ear physiology	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0000598	HP:0031703	Abnormal ear morphology	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0000598	HP:0031703	Abnormal ear morphology	1	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0000598	HP:0031703	Abnormal ear morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0000598	HP:0031703	Abnormal ear morphology	1	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			177
HP:0000598	HP:0031704	Abnormal ear physiology	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0000598	HP:0031703	Abnormal ear morphology	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000598	HP:0031704	Abnormal ear physiology	1	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0000598	HP:0031703	Abnormal ear morphology	1	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0000598	HP:0031703	Abnormal ear morphology	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0000598	HP:0031704	Abnormal ear physiology	1	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0000598	HP:0031703	Abnormal ear morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0000598	HP:0031704	Abnormal ear physiology	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0000598	HP:0031703	Abnormal ear morphology	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000598	HP:0031703	Abnormal ear morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0000598	HP:0031704	Abnormal ear physiology	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0000598	HP:0031703	Abnormal ear morphology	1	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0000598	HP:0031704	Abnormal ear physiology	1	KARS1 CL E G H	3735	6215	OMIM:613916	Deafness, autosomal recessive 89
HP:0000598	HP:0031704	Abnormal ear physiology	1	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000598	HP:0031704	Abnormal ear physiology	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000598	HP:0031703	Abnormal ear morphology	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0000598	HP:0031703	Abnormal ear morphology	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0000598	HP:0031704	Abnormal ear physiology	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0000598	HP:0031704	Abnormal ear physiology	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0000598	HP:0031703	Abnormal ear morphology	1	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant			141
HP:0000598	HP:0031703	Abnormal ear morphology	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000598	HP:0031703	Abnormal ear morphology	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2			148
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct			121
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct			121
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1			730
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNQ4 CL E G H	9132	6298	OMIM:600101	Deafness, autosomal dominant nonsyndromic sensorineural 2			76
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000598	HP:0031704	Abnormal ear physiology	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000598	HP:0031703	Abnormal ear morphology	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000598	HP:0031703	Abnormal ear morphology	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000598	HP:0031703	Abnormal ear morphology	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0000598	HP:0031703	Abnormal ear morphology	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0031704	Abnormal ear physiology	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000598	HP:0031704	Abnormal ear physiology	1	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000598	HP:0031704	Abnormal ear physiology	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000598	HP:0031704	Abnormal ear physiology	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000598	HP:0031704	Abnormal ear physiology	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000598	HP:0031704	Abnormal ear physiology	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000598	HP:0031704	Abnormal ear physiology	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0000598	HP:0031704	Abnormal ear physiology	1	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000598	HP:0031704	Abnormal ear physiology	1	KITLG CL E G H	4254	6343	OMIM:616697	DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000598	HP:0031704	Abnormal ear physiology	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000598	HP:0031704	Abnormal ear physiology	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000598	HP:0031703	Abnormal ear morphology	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0000598	HP:0031703	Abnormal ear morphology	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0000598	HP:0031703	Abnormal ear morphology	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000598	HP:0031703	Abnormal ear morphology	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0000598	HP:0031704	Abnormal ear physiology	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0000598	HP:0031703	Abnormal ear morphology	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000598	HP:0031704	Abnormal ear physiology	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000598	HP:0031703	Abnormal ear morphology	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000598	HP:0031704	Abnormal ear physiology	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000598	HP:0031703	Abnormal ear morphology	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000598	HP:0031703	Abnormal ear morphology	1	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0000598	HP:0031703	Abnormal ear morphology	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0031704	Abnormal ear physiology	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0031703	Abnormal ear morphology	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000598	HP:0031704	Abnormal ear physiology	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome			196
HP:0000598	HP:0031704	Abnormal ear physiology	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D			173
HP:0000598	HP:0031704	Abnormal ear physiology	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0000598	HP:0031704	Abnormal ear physiology	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy			279
HP:0000598	HP:0031704	Abnormal ear physiology	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0000598	HP:0031703	Abnormal ear morphology	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000598	HP:0031703	Abnormal ear morphology	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0000598	HP:0031703	Abnormal ear morphology	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0000598	HP:0031704	Abnormal ear physiology	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000598	HP:0031703	Abnormal ear morphology	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0000598	HP:0031703	Abnormal ear morphology	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0000598	HP:0031704	Abnormal ear physiology	1	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0000598	HP:0031704	Abnormal ear physiology	1	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy			286
HP:0000598	HP:0031704	Abnormal ear physiology	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0031704	Abnormal ear physiology	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0031703	Abnormal ear morphology	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	LHFPL5 CL E G H	222662	21253	OMIM:610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67			93
HP:0000598	HP:0031704	Abnormal ear physiology	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0000598	HP:0031703	Abnormal ear morphology	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0000598	HP:0031703	Abnormal ear morphology	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000598	HP:0031704	Abnormal ear physiology	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000598	HP:0031703	Abnormal ear morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0000598	HP:0031703	Abnormal ear morphology	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000598	HP:0031704	Abnormal ear physiology	1	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy			645
HP:0000598	HP:0031703	Abnormal ear morphology	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0031704	Abnormal ear physiology	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0031704	Abnormal ear physiology	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0000598	HP:0031703	Abnormal ear morphology	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0000598	HP:0031704	Abnormal ear physiology	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0000598	HP:0031703	Abnormal ear morphology	1	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000598	HP:0031704	Abnormal ear physiology	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	LMX1A CL E G H	4009	6653	OMIM:601412	Deafness, autosomal dominant nonsyndromic sensorineural 7
HP:0000598	HP:0031703	Abnormal ear morphology	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0000598	HP:0031704	Abnormal ear physiology	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0000598	HP:0031703	Abnormal ear morphology	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	LOXHD1 CL E G H	125336	26521	OMIM:613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77			278
HP:0000598	HP:0031704	Abnormal ear physiology	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0000598	HP:0031703	Abnormal ear morphology	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000598	HP:0031703	Abnormal ear morphology	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000598	HP:0031703	Abnormal ear morphology	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0031703	Abnormal ear morphology	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000598	HP:0031703	Abnormal ear morphology	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2			124
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal			125
HP:0000598	HP:0031703	Abnormal ear morphology	1	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000598	HP:0031703	Abnormal ear morphology	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0000598	HP:0031703	Abnormal ear morphology	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031703	Abnormal ear morphology	1	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63			78
HP:0000598	HP:0031703	Abnormal ear morphology	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000598	HP:0031703	Abnormal ear morphology	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0031704	Abnormal ear physiology	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0031703	Abnormal ear morphology	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0000598	HP:0031703	Abnormal ear morphology	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness			63
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN			17
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0031704	Abnormal ear physiology	1	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25			25
HP:0000598	HP:0031704	Abnormal ear physiology	1	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive			25
HP:0000598	HP:0031704	Abnormal ear physiology	1	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49			61
HP:0000598	HP:0031703	Abnormal ear morphology	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000598	HP:0031704	Abnormal ear physiology	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000598	HP:0031703	Abnormal ear morphology	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000598	HP:0031703	Abnormal ear morphology	1	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0000598	HP:0031703	Abnormal ear morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	MECOM CL E G H	2122	3498	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0000598	HP:0031703	Abnormal ear morphology	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0000598	HP:0031703	Abnormal ear morphology	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000598	HP:0031704	Abnormal ear physiology	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000598	HP:0031704	Abnormal ear physiology	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000598	HP:0031703	Abnormal ear morphology	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0000598	HP:0031703	Abnormal ear morphology	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0000598	HP:0031703	Abnormal ear morphology	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0031704	Abnormal ear physiology	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0031703	Abnormal ear morphology	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0031704	Abnormal ear physiology	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0031703	Abnormal ear morphology	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0000598	HP:0031704	Abnormal ear physiology	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0000598	HP:0031703	Abnormal ear morphology	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0000598	HP:0031703	Abnormal ear morphology	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000598	HP:0031703	Abnormal ear morphology	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000598	HP:0031703	Abnormal ear morphology	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0000598	HP:0031704	Abnormal ear physiology	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0000598	HP:0031703	Abnormal ear morphology	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0000598	HP:0031704	Abnormal ear physiology	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000598	HP:0031704	Abnormal ear physiology	1	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000598	HP:0031704	Abnormal ear physiology	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000598	HP:0031703	Abnormal ear morphology	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000598	HP:0031703	Abnormal ear morphology	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	MET CL E G H	4233	7029	OMIM:616705	DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97			375
HP:0000598	HP:0031703	Abnormal ear morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000598	HP:0031704	Abnormal ear physiology	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0000598	HP:0031704	Abnormal ear physiology	1	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0000598	HP:0031704	Abnormal ear physiology	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0000598	HP:0031704	Abnormal ear physiology	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000598	HP:0031703	Abnormal ear morphology	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000598	HP:0031704	Abnormal ear physiology	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000598	HP:0031703	Abnormal ear morphology	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0000598	HP:0031703	Abnormal ear morphology	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000598	HP:0031703	Abnormal ear morphology	1	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0000598	HP:0031704	Abnormal ear physiology	1	MITF CL E G H	4286	7105	ORPHA:42665	Tietz syndrome			91
HP:0000598	HP:0031704	Abnormal ear physiology	1	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0000598	HP:0031704	Abnormal ear physiology	1	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0000598	HP:0031704	Abnormal ear physiology	1	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000598	HP:0031704	Abnormal ear physiology	1	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0000598	HP:0031703	Abnormal ear morphology	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0000598	HP:0031704	Abnormal ear physiology	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0000598	HP:0031703	Abnormal ear morphology	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0000598	HP:0031704	Abnormal ear physiology	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0000598	HP:0031703	Abnormal ear morphology	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0000598	HP:0031703	Abnormal ear morphology	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000598	HP:0031703	Abnormal ear morphology	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0000598	HP:0031703	Abnormal ear morphology	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000598	HP:0031703	Abnormal ear morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0000598	HP:0031703	Abnormal ear morphology	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0000598	HP:0031703	Abnormal ear morphology	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000598	HP:0031704	Abnormal ear physiology	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000598	HP:0031704	Abnormal ear physiology	1	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000598	HP:0031704	Abnormal ear physiology	1	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0000598	HP:0031704	Abnormal ear physiology	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0000598	HP:0031704	Abnormal ear physiology	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0000598	HP:0031703	Abnormal ear morphology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0000598	HP:0031704	Abnormal ear physiology	1	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0000598	HP:0031704	Abnormal ear physiology	1	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0000598	HP:0031703	Abnormal ear morphology	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0031704	Abnormal ear physiology	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0031703	Abnormal ear morphology	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0000598	HP:0031703	Abnormal ear morphology	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000598	HP:0031704	Abnormal ear physiology	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000598	HP:0031704	Abnormal ear physiology	1	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0031704	Abnormal ear physiology	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0031703	Abnormal ear morphology	1	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0000598	HP:0031703	Abnormal ear morphology	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000598	HP:0031704	Abnormal ear physiology	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000598	HP:0031704	Abnormal ear physiology	1	MSRB3 CL E G H	253827	27375	OMIM:613718	Deafness, autosomal recessive 74			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0000598	HP:0031703	Abnormal ear morphology	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0000598	HP:0031704	Abnormal ear physiology	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0000598	HP:0031704	Abnormal ear physiology	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0000598	HP:0031704	Abnormal ear physiology	1	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000598	HP:0031704	Abnormal ear physiology	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0000598	HP:0031703	Abnormal ear morphology	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0000598	HP:0031703	Abnormal ear morphology	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0000598	HP:0031703	Abnormal ear morphology	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0000598	HP:0031703	Abnormal ear morphology	1	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy			1143
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4			227
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome			227
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome			166
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy			452
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy			1269
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH9 CL E G H	4627	7579	OMIM:603622	Deafness, autosomal dominant nonsyndromic sensorineural 17			297
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss			297
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease			297
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3			387
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30			168
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22			179
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37			179
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11			516
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2			516
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy			217
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000598	HP:0031704	Abnormal ear physiology	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0000598	HP:0031704	Abnormal ear physiology	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000598	HP:0031704	Abnormal ear physiology	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000598	HP:0031703	Abnormal ear morphology	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0000598	HP:0031703	Abnormal ear morphology	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0000598	HP:0031704	Abnormal ear physiology	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0000598	HP:0031703	Abnormal ear morphology	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0000598	HP:0031703	Abnormal ear morphology	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000598	HP:0031703	Abnormal ear morphology	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0000598	HP:0031703	Abnormal ear morphology	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D			82
HP:0000598	HP:0031703	Abnormal ear morphology	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0000598	HP:0031703	Abnormal ear morphology	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0000598	HP:0031703	Abnormal ear morphology	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0000598	HP:0031703	Abnormal ear morphology	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0000598	HP:0031704	Abnormal ear physiology	1	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0000598	HP:0031703	Abnormal ear morphology	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0000598	HP:0031704	Abnormal ear physiology	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0000598	HP:0031703	Abnormal ear morphology	1	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0000598	HP:0031703	Abnormal ear morphology	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031703	Abnormal ear morphology	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000598	HP:0031704	Abnormal ear physiology	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000598	HP:0031703	Abnormal ear morphology	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000598	HP:0031704	Abnormal ear physiology	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000598	HP:0031704	Abnormal ear physiology	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000598	HP:0031704	Abnormal ear physiology	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0000598	HP:0031703	Abnormal ear morphology	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000598	HP:0031704	Abnormal ear physiology	1	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy			167
HP:0000598	HP:0031703	Abnormal ear morphology	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000598	HP:0031703	Abnormal ear morphology	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000598	HP:0031704	Abnormal ear physiology	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000598	HP:0031703	Abnormal ear morphology	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0000598	HP:0031703	Abnormal ear morphology	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0031703	Abnormal ear morphology	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0031703	Abnormal ear morphology	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0000598	HP:0031704	Abnormal ear physiology	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000598	HP:0031703	Abnormal ear morphology	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000598	HP:0031704	Abnormal ear physiology	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000598	HP:0031703	Abnormal ear morphology	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0031704	Abnormal ear physiology	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0031703	Abnormal ear morphology	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000598	HP:0031703	Abnormal ear morphology	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0000598	HP:0031703	Abnormal ear morphology	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0031703	Abnormal ear morphology	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0000598	HP:0031703	Abnormal ear morphology	1	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome			88
HP:0000598	HP:0031703	Abnormal ear morphology	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0000598	HP:0031703	Abnormal ear morphology	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0000598	HP:0031703	Abnormal ear morphology	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0000598	HP:0031703	Abnormal ear morphology	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0031704	Abnormal ear physiology	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0031703	Abnormal ear morphology	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0031704	Abnormal ear physiology	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0031703	Abnormal ear morphology	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000598	HP:0031704	Abnormal ear physiology	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0000598	HP:0031703	Abnormal ear morphology	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect			90
HP:0000598	HP:0031704	Abnormal ear physiology	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0000598	HP:0031704	Abnormal ear physiology	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0000598	HP:0031704	Abnormal ear physiology	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0000598	HP:0031704	Abnormal ear physiology	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0000598	HP:0031704	Abnormal ear physiology	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0000598	HP:0031704	Abnormal ear physiology	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0000598	HP:0031703	Abnormal ear morphology	1	NME5 CL E G H	8382	7853	OMIM:620032
HP:0000598	HP:0031703	Abnormal ear morphology	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0000598	HP:0031704	Abnormal ear physiology	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0000598	HP:0031704	Abnormal ear physiology	1	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000598	HP:0031703	Abnormal ear morphology	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0031703	Abnormal ear morphology	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000598	HP:0031703	Abnormal ear morphology	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000598	HP:0031703	Abnormal ear morphology	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0031703	Abnormal ear morphology	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0000598	HP:0031704	Abnormal ear physiology	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0000598	HP:0031703	Abnormal ear morphology	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0000598	HP:0031704	Abnormal ear physiology	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000598	HP:0031704	Abnormal ear physiology	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000598	HP:0031703	Abnormal ear morphology	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0031704	Abnormal ear physiology	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0031703	Abnormal ear morphology	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000598	HP:0031704	Abnormal ear physiology	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000598	HP:0031703	Abnormal ear morphology	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000598	HP:0031704	Abnormal ear physiology	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000598	HP:0031703	Abnormal ear morphology	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000598	HP:0031704	Abnormal ear physiology	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000598	HP:0031703	Abnormal ear morphology	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0031704	Abnormal ear physiology	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0031703	Abnormal ear morphology	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0000598	HP:0031703	Abnormal ear morphology	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000598	HP:0031703	Abnormal ear morphology	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0031703	Abnormal ear morphology	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0031704	Abnormal ear physiology	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0031704	Abnormal ear physiology	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0031703	Abnormal ear morphology	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000598	HP:0031703	Abnormal ear morphology	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000598	HP:0031704	Abnormal ear physiology	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000598	HP:0031703	Abnormal ear morphology	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000598	HP:0031704	Abnormal ear physiology	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000598	HP:0031704	Abnormal ear physiology	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0000598	HP:0031704	Abnormal ear physiology	1	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0000598	HP:0031703	Abnormal ear morphology	1	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0000598	HP:0031704	Abnormal ear physiology	1	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000598	HP:0031703	Abnormal ear morphology	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0000598	HP:0031703	Abnormal ear morphology	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0000598	HP:0031703	Abnormal ear morphology	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000598	HP:0031703	Abnormal ear morphology	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0000598	HP:0031703	Abnormal ear morphology	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031703	Abnormal ear morphology	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000598	HP:0031703	Abnormal ear morphology	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031703	Abnormal ear morphology	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0000598	HP:0031703	Abnormal ear morphology	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031703	Abnormal ear morphology	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031703	Abnormal ear morphology	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0000598	HP:0031703	Abnormal ear morphology	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0000598	HP:0031704	Abnormal ear physiology	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0000598	HP:0031703	Abnormal ear morphology	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0000598	HP:0031704	Abnormal ear physiology	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0000598	HP:0031703	Abnormal ear morphology	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000598	HP:0031704	Abnormal ear physiology	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000598	HP:0031703	Abnormal ear morphology	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0000598	HP:0031704	Abnormal ear physiology	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0000598	HP:0031703	Abnormal ear morphology	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000598	HP:0031704	Abnormal ear physiology	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000598	HP:0031703	Abnormal ear morphology	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0000598	HP:0031704	Abnormal ear physiology	1	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000598	HP:0031704	Abnormal ear physiology	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000598	HP:0031704	Abnormal ear physiology	1	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0000598	HP:0031704	Abnormal ear physiology	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000598	HP:0031704	Abnormal ear physiology	1	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000598	HP:0031703	Abnormal ear morphology	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000598	HP:0031703	Abnormal ear morphology	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	OSBPL2 CL E G H	9885	15761	OMIM:616340	DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0000598	HP:0031703	Abnormal ear morphology	1	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0000598	HP:0031704	Abnormal ear physiology	1	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0000598	HP:0031704	Abnormal ear physiology	1	OTOA CL E G H	146183	16378	OMIM:607039	Deafness, autosomal recessive 22			58
HP:0000598	HP:0031703	Abnormal ear morphology	1	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9			383
HP:0000598	HP:0031704	Abnormal ear physiology	1	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9			383
HP:0000598	HP:0031704	Abnormal ear physiology	1	OTOG CL E G H	340990	8516	OMIM:614945	Deafness, autosomal recessive 18B			165
HP:0000598	HP:0031704	Abnormal ear physiology	1	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B			105
HP:0000598	HP:0031703	Abnormal ear morphology	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000598	HP:0031704	Abnormal ear physiology	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000598	HP:0031703	Abnormal ear morphology	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0000598	HP:0031704	Abnormal ear physiology	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0000598	HP:0031704	Abnormal ear physiology	1	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0000598	HP:0031703	Abnormal ear morphology	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000598	HP:0031703	Abnormal ear morphology	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0000598	HP:0031703	Abnormal ear morphology	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0000598	HP:0031703	Abnormal ear morphology	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000598	HP:0031703	Abnormal ear morphology	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000598	HP:0031703	Abnormal ear morphology	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0000598	HP:0031704	Abnormal ear physiology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0000598	HP:0031703	Abnormal ear morphology	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0000598	HP:0031703	Abnormal ear morphology	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			194
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0000598	HP:0031703	Abnormal ear morphology	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000598	HP:0031704	Abnormal ear physiology	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000598	HP:0031703	Abnormal ear morphology	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0031704	Abnormal ear physiology	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0031704	Abnormal ear physiology	1	PCDH15 CL E G H	65217	14674	OMIM:609533	Deafness, autosomal recessive 23			352
HP:0000598	HP:0031703	Abnormal ear morphology	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000598	HP:0031704	Abnormal ear physiology	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000598	HP:0031704	Abnormal ear physiology	1	PCDH15 CL E G H	65217	14674	OMIM:601067	Usher syndrome, type ID			352
HP:0000598	HP:0031704	Abnormal ear physiology	1	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF			352
HP:0000598	HP:0031703	Abnormal ear morphology	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000598	HP:0031703	Abnormal ear morphology	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0000598	HP:0031704	Abnormal ear physiology	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0000598	HP:0031703	Abnormal ear morphology	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0000598	HP:0031703	Abnormal ear morphology	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0000598	HP:0031704	Abnormal ear physiology	1	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDE1C CL E G H	5137	8776	OMIM:618140	Deafness, autosomal dominant 74			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0000598	HP:0031703	Abnormal ear morphology	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000598	HP:0031703	Abnormal ear morphology	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000598	HP:0031703	Abnormal ear morphology	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000598	HP:0031703	Abnormal ear morphology	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDZD7 CL E G H	79955	26257	OMIM:618003	DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57			40
HP:0000598	HP:0031703	Abnormal ear morphology	1	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC			40
HP:0000598	HP:0031703	Abnormal ear morphology	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0000598	HP:0031704	Abnormal ear physiology	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1			169
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B			66
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B			106
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B			47
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B			99
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0000598	HP:0031703	Abnormal ear morphology	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0000598	HP:0031703	Abnormal ear morphology	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0000598	HP:0031703	Abnormal ear morphology	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0000598	HP:0031703	Abnormal ear morphology	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0000598	HP:0031703	Abnormal ear morphology	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0000598	HP:0031704	Abnormal ear physiology	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0000598	HP:0031703	Abnormal ear morphology	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17	.		1
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0000598	HP:0031703	Abnormal ear morphology	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0000598	HP:0031704	Abnormal ear physiology	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000598	HP:0031704	Abnormal ear physiology	1	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	PJVK CL E G H	494513	29502	OMIM:610220	Deafness, autosomal recessive 59			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0000598	HP:0031704	Abnormal ear physiology	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000598	HP:0031704	Abnormal ear physiology	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0000598	HP:0031704	Abnormal ear physiology	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000598	HP:0031704	Abnormal ear physiology	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy			57
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	PLS1 CL E G H	5357	9090	OMIM:618787	DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000598	HP:0031704	Abnormal ear physiology	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000598	HP:0031703	Abnormal ear morphology	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0000598	HP:0031704	Abnormal ear physiology	1	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness			79
HP:0000598	HP:0031704	Abnormal ear physiology	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0000598	HP:0031704	Abnormal ear physiology	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0000598	HP:0031704	Abnormal ear physiology	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0000598	HP:0031703	Abnormal ear morphology	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0000598	HP:0031704	Abnormal ear physiology	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0000598	HP:0031704	Abnormal ear physiology	1	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0000598	HP:0031703	Abnormal ear morphology	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000598	HP:0031704	Abnormal ear physiology	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000598	HP:0031704	Abnormal ear physiology	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	PNPT1 CL E G H	87178	23166	OMIM:614934	DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000598	HP:0031703	Abnormal ear morphology	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000598	HP:0031704	Abnormal ear physiology	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000598	HP:0031704	Abnormal ear physiology	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome			1129
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0031703	Abnormal ear morphology	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0000598	HP:0031704	Abnormal ear physiology	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000598	HP:0031704	Abnormal ear physiology	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000598	HP:0031703	Abnormal ear morphology	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0000598	HP:0031703	Abnormal ear morphology	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000598	HP:0031703	Abnormal ear morphology	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0000598	HP:0031703	Abnormal ear morphology	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000598	HP:0031703	Abnormal ear morphology	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0000598	HP:0031703	Abnormal ear morphology	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0000598	HP:0031704	Abnormal ear physiology	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0000598	HP:0031703	Abnormal ear morphology	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0000598	HP:0031703	Abnormal ear morphology	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0000598	HP:0031704	Abnormal ear physiology	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0000598	HP:0031703	Abnormal ear morphology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0000598	HP:0031703	Abnormal ear morphology	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000598	HP:0031703	Abnormal ear morphology	1	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0031703	Abnormal ear morphology	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0031703	Abnormal ear morphology	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0000598	HP:0031704	Abnormal ear physiology	1	POU4F3 CL E G H	5459	9220	OMIM:602459	Deafness, autosomal dominant 15			29
HP:0000598	HP:0031704	Abnormal ear physiology	1	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0031704	Abnormal ear physiology	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000598	HP:0031704	Abnormal ear physiology	1	PPIP5K2 CL E G H	23262	29035	OMIM:618422	Deafness, autosomal recessive 100			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000598	HP:0031703	Abnormal ear morphology	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000598	HP:0031703	Abnormal ear morphology	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000598	HP:0031704	Abnormal ear physiology	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000598	HP:0031703	Abnormal ear morphology	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000598	HP:0031704	Abnormal ear physiology	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy			148
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2			58
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000598	HP:0031703	Abnormal ear morphology	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000598	HP:0031704	Abnormal ear physiology	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000598	HP:0031704	Abnormal ear physiology	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPS1 CL E G H	5631	9462	OMIM:304500	DEAFNESS, X-LINKED 1; DFNX1			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5			49
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0031704	Abnormal ear physiology	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0000598	HP:0031704	Abnormal ear physiology	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0000598	HP:0031704	Abnormal ear physiology	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0000598	HP:0031704	Abnormal ear physiology	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0000598	HP:0031703	Abnormal ear morphology	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy			241
HP:0000598	HP:0031704	Abnormal ear physiology	1	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy			59
HP:0000598	HP:0031704	Abnormal ear physiology	1	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0000598	HP:0031703	Abnormal ear morphology	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0000598	HP:0031703	Abnormal ear morphology	1	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000598	HP:0031704	Abnormal ear physiology	1	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000598	HP:0031704	Abnormal ear physiology	1	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTPRQ CL E G H	374462	9679	OMIM:617663	Deafness, autosomal dominant 73			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000598	HP:0031704	Abnormal ear physiology	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000598	HP:0031703	Abnormal ear morphology	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000598	HP:0031704	Abnormal ear physiology	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000598	HP:0031703	Abnormal ear morphology	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0000598	HP:0031703	Abnormal ear morphology	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy			212
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			127
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			50
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000598	HP:0031704	Abnormal ear physiology	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0000598	HP:0031703	Abnormal ear morphology	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000598	HP:0031703	Abnormal ear morphology	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0000598	HP:0031703	Abnormal ear morphology	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0000598	HP:0031704	Abnormal ear physiology	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0000598	HP:0031703	Abnormal ear morphology	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy			363
HP:0000598	HP:0031703	Abnormal ear morphology	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000598	HP:0031704	Abnormal ear physiology	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000598	HP:0031704	Abnormal ear physiology	1	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0000598	HP:0031703	Abnormal ear morphology	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24			97
HP:0000598	HP:0031703	Abnormal ear morphology	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000598	HP:0031703	Abnormal ear morphology	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0000598	HP:0031704	Abnormal ear physiology	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000598	HP:0031704	Abnormal ear physiology	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0000598	HP:0031704	Abnormal ear physiology	1	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome			445
HP:0000598	HP:0031703	Abnormal ear morphology	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000598	HP:0031703	Abnormal ear morphology	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0000598	HP:0031703	Abnormal ear morphology	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	REST CL E G H	5978	9966	OMIM:612431	DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0000598	HP:0031703	Abnormal ear morphology	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000598	HP:0031704	Abnormal ear physiology	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000598	HP:0031704	Abnormal ear physiology	1	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0000598	HP:0031703	Abnormal ear morphology	1	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0000598	HP:0031703	Abnormal ear morphology	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0000598	HP:0031704	Abnormal ear physiology	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0000598	HP:0031704	Abnormal ear physiology	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0000598	HP:0031704	Abnormal ear physiology	1	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0000598	HP:0031703	Abnormal ear morphology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000598	HP:0031704	Abnormal ear physiology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000598	HP:0031703	Abnormal ear morphology	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0000598	HP:0031703	Abnormal ear morphology	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0000598	HP:0031703	Abnormal ear morphology	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0031704	Abnormal ear physiology	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000598	HP:0031704	Abnormal ear physiology	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000598	HP:0031704	Abnormal ear physiology	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000598	HP:0031703	Abnormal ear morphology	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000598	HP:0031703	Abnormal ear morphology	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000598	HP:0031704	Abnormal ear physiology	1	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0000598	HP:0031703	Abnormal ear morphology	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0000598	HP:0031703	Abnormal ear morphology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000598	HP:0031704	Abnormal ear physiology	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0000598	HP:0031704	Abnormal ear physiology	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000598	HP:0031704	Abnormal ear physiology	1	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0000598	HP:0031703	Abnormal ear morphology	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			90
HP:0000598	HP:0031703	Abnormal ear morphology	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000598	HP:0031704	Abnormal ear physiology	1	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000598	HP:0031704	Abnormal ear physiology	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000598	HP:0031703	Abnormal ear morphology	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000598	HP:0031703	Abnormal ear morphology	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000598	HP:0031704	Abnormal ear physiology	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000598	HP:0031703	Abnormal ear morphology	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000598	HP:0031704	Abnormal ear physiology	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000598	HP:0031703	Abnormal ear morphology	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS			200
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS			200
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0000598	HP:0031704	Abnormal ear physiology	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0000598	HP:0031703	Abnormal ear morphology	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000598	HP:0031703	Abnormal ear morphology	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0000598	HP:0031704	Abnormal ear physiology	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0000598	HP:0031703	Abnormal ear morphology	1	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0000598	HP:0031704	Abnormal ear physiology	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0000598	HP:0031703	Abnormal ear morphology	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000598	HP:0031703	Abnormal ear morphology	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0000598	HP:0031703	Abnormal ear morphology	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000598	HP:0031703	Abnormal ear morphology	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0000598	HP:0031703	Abnormal ear morphology	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0000598	HP:0031703	Abnormal ear morphology	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000598	HP:0031703	Abnormal ear morphology	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0031704	Abnormal ear physiology	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0031703	Abnormal ear morphology	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0000598	HP:0031704	Abnormal ear physiology	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0000598	HP:0031704	Abnormal ear physiology	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0000598	HP:0031703	Abnormal ear morphology	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0000598	HP:0031703	Abnormal ear morphology	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0000598	HP:0031704	Abnormal ear physiology	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0000598	HP:0031703	Abnormal ear morphology	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0000598	HP:0031704	Abnormal ear physiology	1	RYR2 CL E G H	6262	10484	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			1103
HP:0000598	HP:0031704	Abnormal ear physiology	1	S1PR2 CL E G H	9294	3169	OMIM:610419	Deafness, autosomal recessive 68			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000598	HP:0031704	Abnormal ear physiology	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000598	HP:0031703	Abnormal ear morphology	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0031704	Abnormal ear physiology	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0031703	Abnormal ear morphology	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000598	HP:0031703	Abnormal ear morphology	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000598	HP:0031703	Abnormal ear morphology	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0000598	HP:0031703	Abnormal ear morphology	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000598	HP:0031703	Abnormal ear morphology	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0000598	HP:0031704	Abnormal ear physiology	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0000598	HP:0031704	Abnormal ear physiology	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0000598	HP:0031704	Abnormal ear physiology	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0000598	HP:0031703	Abnormal ear morphology	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000598	HP:0031704	Abnormal ear physiology	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0000598	HP:0031704	Abnormal ear physiology	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000598	HP:0031703	Abnormal ear morphology	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0031704	Abnormal ear physiology	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0031703	Abnormal ear morphology	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000598	HP:0031704	Abnormal ear physiology	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000598	HP:0031704	Abnormal ear physiology	1	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect			126
HP:0000598	HP:0031704	Abnormal ear physiology	1	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0000598	HP:0031704	Abnormal ear physiology	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0000598	HP:0031704	Abnormal ear physiology	1	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy			1134
HP:0000598	HP:0031704	Abnormal ear physiology	1	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect			1134
HP:0000598	HP:0031703	Abnormal ear morphology	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000598	HP:0031704	Abnormal ear physiology	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0000598	HP:0031703	Abnormal ear morphology	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000598	HP:0031703	Abnormal ear morphology	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0000598	HP:0031703	Abnormal ear morphology	1	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy			304
HP:0000598	HP:0031703	Abnormal ear morphology	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000598	HP:0031703	Abnormal ear morphology	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome			237
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0000598	HP:0031703	Abnormal ear morphology	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4			237
HP:0000598	HP:0031703	Abnormal ear morphology	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome			147
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0000598	HP:0031703	Abnormal ear morphology	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3			147
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome			129
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0000598	HP:0031703	Abnormal ear morphology	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000598	HP:0031703	Abnormal ear morphology	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1			129
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1			129
HP:0000598	HP:0031703	Abnormal ear morphology	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0000598	HP:0031704	Abnormal ear physiology	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0000598	HP:0031703	Abnormal ear morphology	1	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0000598	HP:0031704	Abnormal ear physiology	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000598	HP:0031704	Abnormal ear physiology	1	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0031704	Abnormal ear physiology	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0000598	HP:0031704	Abnormal ear physiology	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0000598	HP:0031704	Abnormal ear physiology	1	SERPINB6 CL E G H	5269	8950	OMIM:613453	Deafness, autosomal recessive 91			29
HP:0000598	HP:0031703	Abnormal ear morphology	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0000598	HP:0031703	Abnormal ear morphology	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000598	HP:0031704	Abnormal ear physiology	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000598	HP:0031703	Abnormal ear morphology	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0000598	HP:0031703	Abnormal ear morphology	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0031704	Abnormal ear physiology	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0031703	Abnormal ear morphology	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000598	HP:0031703	Abnormal ear morphology	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000598	HP:0031703	Abnormal ear morphology	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0000598	HP:0031703	Abnormal ear morphology	1	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0000598	HP:0031703	Abnormal ear morphology	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy			223
HP:0000598	HP:0031703	Abnormal ear morphology	1	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000598	HP:0031704	Abnormal ear physiology	1	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000598	HP:0031704	Abnormal ear physiology	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0000598	HP:0031703	Abnormal ear morphology	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0000598	HP:0031703	Abnormal ear morphology	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0000598	HP:0031704	Abnormal ear physiology	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000598	HP:0031704	Abnormal ear physiology	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0000598	HP:0031703	Abnormal ear morphology	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000598	HP:0031704	Abnormal ear physiology	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0000598	HP:0031704	Abnormal ear physiology	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0000598	HP:0031704	Abnormal ear physiology	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0000598	HP:0031704	Abnormal ear physiology	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0000598	HP:0031703	Abnormal ear morphology	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0000598	HP:0031704	Abnormal ear physiology	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0000598	HP:0031703	Abnormal ear morphology	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000598	HP:0031703	Abnormal ear morphology	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000598	HP:0031703	Abnormal ear morphology	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional		40
HP:0000598	HP:0031703	Abnormal ear morphology	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation
HP:0000598	HP:0031703	Abnormal ear morphology	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0031703	Abnormal ear morphology	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0000598	HP:0031703	Abnormal ear morphology	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0031703	Abnormal ear morphology	1	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0000598	HP:0031703	Abnormal ear morphology	1	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIX5 CL E G H	147912	10891	OMIM:610896	Branchiootorenal syndrome 2			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0031704	Abnormal ear physiology	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0031703	Abnormal ear morphology	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0031704	Abnormal ear physiology	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0031703	Abnormal ear morphology	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000598	HP:0031704	Abnormal ear physiology	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000598	HP:0031703	Abnormal ear morphology	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC17A8 CL E G H	246213	20151	OMIM:605583	DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25			64
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6			63
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct			274
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct			274
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC26A5 CL E G H	375611	9359	OMIM:613865	DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61			49
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0000598	HP:0031704	Abnormal ear physiology	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P			274
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2			174
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0000598	HP:0031703	Abnormal ear morphology	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D			19
HP:0000598	HP:0031703	Abnormal ear morphology	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0000598	HP:0031703	Abnormal ear morphology	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000598	HP:0031703	Abnormal ear morphology	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0000598	HP:0031703	Abnormal ear morphology	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata			26
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0000598	HP:0031703	Abnormal ear morphology	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0000598	HP:0031704	Abnormal ear physiology	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000598	HP:0031704	Abnormal ear physiology	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPNS2 CL E G H	124976	26992	OMIM:618457	Deafness, autosomal recessive 115
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPRY4 CL E G H	81848	15533	OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			149
HP:0000598	HP:0031704	Abnormal ear physiology	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0000598	HP:0031704	Abnormal ear physiology	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0000598	HP:0031704	Abnormal ear physiology	1	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0000598	HP:0031703	Abnormal ear morphology	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000598	HP:0031703	Abnormal ear morphology	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0031703	Abnormal ear morphology	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000598	HP:0031704	Abnormal ear physiology	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0031704	Abnormal ear physiology	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000598	HP:0031703	Abnormal ear morphology	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0000598	HP:0031704	Abnormal ear physiology	1	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	SRP72 CL E G H	6731	11303	OMIM:614675	Bone marrow failure syndrome 1			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0000598	HP:0031703	Abnormal ear morphology	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0000598	HP:0031703	Abnormal ear morphology	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0000598	HP:0031704	Abnormal ear physiology	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0000598	HP:0031704	Abnormal ear physiology	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0000598	HP:0031703	Abnormal ear morphology	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0000598	HP:0031704	Abnormal ear physiology	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0000598	HP:0031704	Abnormal ear physiology	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000598	HP:0031704	Abnormal ear physiology	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0000598	HP:0031704	Abnormal ear physiology	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0000598	HP:0031704	Abnormal ear physiology	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0000598	HP:0031704	Abnormal ear physiology	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0000598	HP:0031703	Abnormal ear morphology	1	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0000598	HP:0031704	Abnormal ear physiology	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0000598	HP:0031703	Abnormal ear morphology	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0000598	HP:0031704	Abnormal ear physiology	1	STRC CL E G H	161497	16035	OMIM:603720	DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16			78
HP:0000598	HP:0031704	Abnormal ear physiology	1	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility			78
HP:0000598	HP:0031704	Abnormal ear physiology	1	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome			78
HP:0000598	HP:0031703	Abnormal ear morphology	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0000598	HP:0031704	Abnormal ear physiology	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0031703	Abnormal ear morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0000598	HP:0031704	Abnormal ear physiology	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0000598	HP:0031704	Abnormal ear physiology	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0000598	HP:0031704	Abnormal ear physiology	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0000598	HP:0031703	Abnormal ear morphology	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0000598	HP:0031704	Abnormal ear physiology	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000598	HP:0031703	Abnormal ear morphology	1	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0000598	HP:0031704	Abnormal ear physiology	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0000598	HP:0031703	Abnormal ear morphology	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0000598	HP:0031703	Abnormal ear morphology	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000598	HP:0031704	Abnormal ear physiology	1	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000598	HP:0031704	Abnormal ear physiology	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0000598	HP:0031704	Abnormal ear physiology	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0000598	HP:0031704	Abnormal ear physiology	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0000598	HP:0031703	Abnormal ear morphology	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000598	HP:0031704	Abnormal ear physiology	1	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0000598	HP:0031704	Abnormal ear physiology	1	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0000598	HP:0031704	Abnormal ear physiology	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0031703	Abnormal ear morphology	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0031703	Abnormal ear morphology	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0031703	Abnormal ear morphology	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0031704	Abnormal ear physiology	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0031703	Abnormal ear morphology	1	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I			17
HP:0000598	HP:0031703	Abnormal ear morphology	1	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0000598	HP:0031703	Abnormal ear morphology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0031704	Abnormal ear physiology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0031703	Abnormal ear morphology	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0031704	Abnormal ear physiology	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65			271
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBC1D24 CL E G H	57465	29203	OMIM:614617	Deafness, autosomal recessive 86			271
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBL1Y CL E G H	90665	18502	OMIM:400047	DEAFNESS, Y-LINKED 2
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked			28
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0000598	HP:0031704	Abnormal ear physiology	1	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy			78
HP:0000598	HP:0031704	Abnormal ear physiology	1	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly			28
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0000598	HP:0031704	Abnormal ear physiology	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0000598	HP:0031704	Abnormal ear physiology	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0000598	HP:0031704	Abnormal ear physiology	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0031704	Abnormal ear physiology	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0031704	Abnormal ear physiology	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV			31
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0031704	Abnormal ear physiology	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0031703	Abnormal ear morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000598	HP:0031704	Abnormal ear physiology	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000598	HP:0031704	Abnormal ear physiology	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	TECRL CL E G H	253017	27365	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	TECTA CL E G H	7007	11720	OMIM:601543	Deafness, autosomal dominant nonsyndromic sensorineural 12			222
HP:0000598	HP:0031704	Abnormal ear physiology	1	TECTA CL E G H	7007	11720	OMIM:603629	DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21			222
HP:0000598	HP:0031703	Abnormal ear morphology	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0000598	HP:0031704	Abnormal ear physiology	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0000598	HP:0031704	Abnormal ear physiology	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000598	HP:0031704	Abnormal ear physiology	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000598	HP:0031703	Abnormal ear morphology	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0000598	HP:0031704	Abnormal ear physiology	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0000598	HP:0031703	Abnormal ear morphology	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000598	HP:0031704	Abnormal ear physiology	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0000598	HP:0031703	Abnormal ear morphology	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0000598	HP:0031704	Abnormal ear physiology	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000598	HP:0031704	Abnormal ear physiology	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000598	HP:0031704	Abnormal ear physiology	1	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			98
HP:0000598	HP:0031703	Abnormal ear morphology	1	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0000598	HP:0031703	Abnormal ear morphology	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000598	HP:0031704	Abnormal ear physiology	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000598	HP:0031703	Abnormal ear morphology	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0031704	Abnormal ear physiology	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0000598	HP:0031704	Abnormal ear physiology	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0000598	HP:0031704	Abnormal ear physiology	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000598	HP:0031704	Abnormal ear physiology	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMC1 CL E G H	117531	16513	OMIM:606705	Deafness, autosomal dominant 36			109
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7			109
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMEM132E CL E G H	124842	26991	OMIM:618481	DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMEM43 CL E G H	79188	28472	OMIM:619832	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3			171
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome			166
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0000598	HP:0031703	Abnormal ear morphology	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMIE CL E G H	259236	30800	OMIM:600971	Deafness, autosomal recessive 6			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy			136
HP:0000598	HP:0031704	Abnormal ear physiology	1	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8			111
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNC CL E G H	3371	5318	OMIM:615629	Deafness, autosomal dominant 56			9
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2			12
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy			73
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome			37
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy			180
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome			43
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000598	HP:0031703	Abnormal ear morphology	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000598	HP:0031704	Abnormal ear physiology	1	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000598	HP:0031703	Abnormal ear morphology	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000598	HP:0031703	Abnormal ear morphology	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000598	HP:0031703	Abnormal ear morphology	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000598	HP:0031703	Abnormal ear morphology	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0000598	HP:0031703	Abnormal ear morphology	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0000598	HP:0031704	Abnormal ear physiology	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0000598	HP:0031704	Abnormal ear physiology	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000598	HP:0031704	Abnormal ear physiology	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0000598	HP:0031704	Abnormal ear physiology	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0000598	HP:0031704	Abnormal ear physiology	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0000598	HP:0031704	Abnormal ear physiology	1	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0000598	HP:0031704	Abnormal ear physiology	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0000598	HP:0031703	Abnormal ear morphology	1	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0000598	HP:0031704	Abnormal ear physiology	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0000598	HP:0031704	Abnormal ear physiology	1	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy			230
HP:0000598	HP:0031703	Abnormal ear morphology	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0000598	HP:0031704	Abnormal ear physiology	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0000598	HP:0031703	Abnormal ear morphology	1	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome			54
HP:0000598	HP:0031703	Abnormal ear morphology	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0000598	HP:0031704	Abnormal ear physiology	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0000598	HP:0031703	Abnormal ear morphology	1	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0000598	HP:0031703	Abnormal ear morphology	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000598	HP:0031704	Abnormal ear physiology	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000598	HP:0031704	Abnormal ear physiology	1	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79			32
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRDN CL E G H	10345	12261	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			145
HP:0000598	HP:0031703	Abnormal ear morphology	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28			154
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRMU CL E G H	55687	25481	OMIM:580000	Deafness, aminoglycoside-induced			101
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNS1 CL E G H	4574	7497	OMIM:580000	Deafness, aminoglycoside-induced
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect			124
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			151
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRRAP CL E G H	8295	12347	OMIM:618778	DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0000598	HP:0031703	Abnormal ear morphology	1	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital			111
HP:0000598	HP:0031704	Abnormal ear physiology	1	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital			111
HP:0000598	HP:0031704	Abnormal ear physiology	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000598	HP:0031704	Abnormal ear physiology	1	TSPEAR CL E G H	54084	1268	OMIM:614861	Deafness, autosomal recessive 98			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0031704	Abnormal ear physiology	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0000598	HP:0031703	Abnormal ear morphology	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000598	HP:0031704	Abnormal ear physiology	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000598	HP:0031703	Abnormal ear morphology	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000598	HP:0031703	Abnormal ear morphology	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0000598	HP:0031704	Abnormal ear physiology	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0000598	HP:0031703	Abnormal ear morphology	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000598	HP:0031704	Abnormal ear physiology	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000598	HP:0031703	Abnormal ear morphology	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0000598	HP:0031703	Abnormal ear morphology	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0000598	HP:0031704	Abnormal ear physiology	1	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy			7128
HP:0000598	HP:0031704	Abnormal ear physiology	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0000598	HP:0031703	Abnormal ear morphology	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0000598	HP:0031703	Abnormal ear morphology	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000598	HP:0031704	Abnormal ear physiology	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000598	HP:0031704	Abnormal ear physiology	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0000598	HP:0031704	Abnormal ear physiology	1	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000598	HP:0031703	Abnormal ear morphology	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000598	HP:0031703	Abnormal ear morphology	1	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0000598	HP:0031704	Abnormal ear physiology	1	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0000598	HP:0031703	Abnormal ear morphology	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000598	HP:0031703	Abnormal ear morphology	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWNK CL E G H	56652	1160	ORPHA:1186	Infantile-onset spinocerebellar ataxia			113
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)			113
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000598	HP:0031704	Abnormal ear physiology	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0000598	HP:0031703	Abnormal ear morphology	1	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0000598	HP:0031703	Abnormal ear morphology	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0000598	HP:0031704	Abnormal ear physiology	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0000598	HP:0031704	Abnormal ear physiology	1	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy			85
HP:0000598	HP:0031704	Abnormal ear physiology	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000598	HP:0031704	Abnormal ear physiology	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0000598	HP:0031704	Abnormal ear physiology	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0000598	HP:0031703	Abnormal ear morphology	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0000598	HP:0031704	Abnormal ear physiology	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0000598	HP:0031703	Abnormal ear morphology	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000598	HP:0031704	Abnormal ear physiology	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000598	HP:0031703	Abnormal ear morphology	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0000598	HP:0031704	Abnormal ear physiology	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0000598	HP:0031703	Abnormal ear morphology	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0000598	HP:0031704	Abnormal ear physiology	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0000598	HP:0031703	Abnormal ear morphology	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000598	HP:0031703	Abnormal ear morphology	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000598	HP:0031704	Abnormal ear physiology	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0000598	HP:0031703	Abnormal ear morphology	1	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0000598	HP:0031703	Abnormal ear morphology	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0000598	HP:0031704	Abnormal ear physiology	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000598	HP:0031703	Abnormal ear morphology	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000598	HP:0031703	Abnormal ear morphology	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0000598	HP:0031704	Abnormal ear physiology	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0000598	HP:0031704	Abnormal ear physiology	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	USH1C CL E G H	10083	12597	OMIM:602092	DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A			173
HP:0000598	HP:0031703	Abnormal ear morphology	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000598	HP:0031704	Abnormal ear physiology	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000598	HP:0031704	Abnormal ear physiology	1	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000598	HP:0031704	Abnormal ear physiology	1	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC			173
HP:0000598	HP:0031703	Abnormal ear morphology	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000598	HP:0031704	Abnormal ear physiology	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000598	HP:0031704	Abnormal ear physiology	1	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG			78
HP:0000598	HP:0031703	Abnormal ear morphology	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000598	HP:0031704	Abnormal ear physiology	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000598	HP:0031703	Abnormal ear morphology	1	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000598	HP:0031704	Abnormal ear physiology	1	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000598	HP:0031704	Abnormal ear physiology	1	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA			777
HP:0000598	HP:0031704	Abnormal ear physiology	1	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0000598	HP:0031704	Abnormal ear physiology	1	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0000598	HP:0031704	Abnormal ear physiology	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0000598	HP:0031704	Abnormal ear physiology	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000598	HP:0031704	Abnormal ear physiology	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000598	HP:0031704	Abnormal ear physiology	1	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0000598	HP:0031704	Abnormal ear physiology	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0000598	HP:0031704	Abnormal ear physiology	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0000598	HP:0031703	Abnormal ear morphology	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000598	HP:0031704	Abnormal ear physiology	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000598	HP:0031703	Abnormal ear morphology	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0000598	HP:0031704	Abnormal ear physiology	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0000598	HP:0031703	Abnormal ear morphology	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0000598	HP:0031704	Abnormal ear physiology	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0000598	HP:0031704	Abnormal ear physiology	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0000598	HP:0031703	Abnormal ear morphology	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000598	HP:0031704	Abnormal ear physiology	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000598	HP:0031704	Abnormal ear physiology	1	VPS33B CL E G H	26276	12712	OMIM:620009				63
HP:0000598	HP:0031703	Abnormal ear morphology	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0000598	HP:0031704	Abnormal ear physiology	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0000598	HP:0031703	Abnormal ear morphology	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0031704	Abnormal ear physiology	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000598	HP:0031703	Abnormal ear morphology	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0000598	HP:0031703	Abnormal ear morphology	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0031704	Abnormal ear physiology	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0031703	Abnormal ear morphology	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0000598	HP:0031703	Abnormal ear morphology	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0000598	HP:0031703	Abnormal ear morphology	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000598	HP:0031703	Abnormal ear morphology	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0000598	HP:0031703	Abnormal ear morphology	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0000598	HP:0031703	Abnormal ear morphology	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000598	HP:0031704	Abnormal ear physiology	1	WBP2 CL E G H	23558	12738	OMIM:617639	DEAFNESS, AUTOSOMAL RECESSIVE 107; DFNB107			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0000598	HP:0031704	Abnormal ear physiology	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0000598	HP:0031704	Abnormal ear physiology	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0000598	HP:0031703	Abnormal ear morphology	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000598	HP:0031703	Abnormal ear morphology	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000598	HP:0031703	Abnormal ear morphology	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000598	HP:0031704	Abnormal ear physiology	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000598	HP:0031703	Abnormal ear morphology	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0031703	Abnormal ear morphology	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000598	HP:0031703	Abnormal ear morphology	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6			389
HP:0000598	HP:0031704	Abnormal ear physiology	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0000598	HP:0031704	Abnormal ear physiology	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0000598	HP:0031703	Abnormal ear morphology	1	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0000598	HP:0031704	Abnormal ear physiology	1	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0000598	HP:0031704	Abnormal ear physiology	1	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000598	HP:0031704	Abnormal ear physiology	1	WHRN CL E G H	25861	16361	OMIM:607084	Deafness, autosomal recessive 31			155
HP:0000598	HP:0031703	Abnormal ear morphology	1	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000598	HP:0031704	Abnormal ear physiology	1	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000598	HP:0031704	Abnormal ear physiology	1	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID			155
HP:0000598	HP:0031703	Abnormal ear morphology	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0000598	HP:0031703	Abnormal ear morphology	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000598	HP:0031704	Abnormal ear physiology	1	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0000598	HP:0031703	Abnormal ear morphology	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000598	HP:0031704	Abnormal ear physiology	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000598	HP:0031703	Abnormal ear morphology	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0000598	HP:0031703	Abnormal ear morphology	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0000598	HP:0031703	Abnormal ear morphology	1	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0000598	HP:0031704	Abnormal ear physiology	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0000598	HP:0031704	Abnormal ear physiology	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0000598	HP:0031704	Abnormal ear physiology	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0000598	HP:0031704	Abnormal ear physiology	1	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0000598	HP:0031703	Abnormal ear morphology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0000598	HP:0031704	Abnormal ear physiology	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000598	HP:0031703	Abnormal ear morphology	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000598	HP:0031703	Abnormal ear morphology	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0000598	HP:0031704	Abnormal ear physiology	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0000598	HP:0031703	Abnormal ear morphology	1	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0000598	HP:0031703	Abnormal ear morphology	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2			9
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly			5
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive			1
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0000598	HP:0031703	Abnormal ear morphology	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0000598	HP:0031704	Abnormal ear physiology	1	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0000598	HP:0000370	Abnormality of the middle ear	2	A2ML1 CL E G H	144568	23336	OMIM:166760	Otitis media, susceptibility to			120
HP:0000598	HP:0000364	Hearing abnormality	2	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0000598	HP:0000364	Hearing abnormality	2	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0000598	HP:0000364	Hearing abnormality	2	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			130
HP:0000598	HP:0000364	Hearing abnormality	2	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040281 - Very frequent		130
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0000598	HP:0000364	Hearing abnormality	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000598	HP:0000364	Hearing abnormality	2	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria			20
HP:0000598	HP:0000364	Hearing abnormality	2	ABCC1 CL E G H	4363	51	OMIM:618915	DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77			22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ABCC1 CL E G H	4363	51	OMIM:618915	DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77			22
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0000364	Hearing abnormality	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0000598	HP:0000364	Hearing abnormality	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0000598	HP:0000364	Hearing abnormality	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0000598	HP:0000364	Hearing abnormality	2	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy			254
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy			254
HP:0000598	HP:0000364	Hearing abnormality	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0000598	HP:0000364	Hearing abnormality	2	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0000598	HP:0000364	Hearing abnormality	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0000598	HP:0000364	Hearing abnormality	2	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000598	HP:0000364	Hearing abnormality	2	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000598	HP:0000364	Hearing abnormality	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000598	HP:0000364	Hearing abnormality	2	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000598	HP:0000364	Hearing abnormality	2	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000598	HP:0000364	Hearing abnormality	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0000598	HP:0000364	Hearing abnormality	2	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000598	HP:0000364	Hearing abnormality	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000598	HP:0000364	Hearing abnormality	2	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0000598	HP:0000364	Hearing abnormality	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0000598	HP:0000364	Hearing abnormality	2	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy			208
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy			208
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0000598	HP:0000364	Hearing abnormality	2	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0000598	HP:0000364	Hearing abnormality	2	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20			123
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20			123
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0000598	HP:0000364	Hearing abnormality	2	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy			307
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy			307
HP:0000598	HP:0000364	Hearing abnormality	2	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0000598	HP:0000364	Hearing abnormality	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0000598	HP:0000364	Hearing abnormality	2	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency			13
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency			13
HP:0000598	HP:0000364	Hearing abnormality	2	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency			13
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency			13
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency			75
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome			22
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0000598	HP:0000364	Hearing abnormality	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0000598	HP:0000364	Hearing abnormality	2	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44			2
HP:0000598	HP:0000364	Hearing abnormality	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0000598	HP:0000359	Abnormality of the inner ear	2	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000598	HP:0000364	Hearing abnormality	2	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000598	HP:0000364	Hearing abnormality	2	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC			530
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC			530
HP:0000598	HP:0000364	Hearing abnormality	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000598	HP:0000364	Hearing abnormality	2	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0000598	HP:0000370	Abnormality of the middle ear	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0000598	HP:0000364	Hearing abnormality	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000598	HP:0000364	Hearing abnormality	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000598	HP:0000364	Hearing abnormality	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000598	HP:0000364	Hearing abnormality	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000598	HP:0000364	Hearing abnormality	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000598	HP:0000370	Abnormality of the middle ear	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000598	HP:0000364	Hearing abnormality	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome			60
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome			60
HP:0000598	HP:0000364	Hearing abnormality	2	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5			60
HP:0000598	HP:0000370	Abnormality of the middle ear	2	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5			60
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0000598	HP:0000364	Hearing abnormality	2	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4			60
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000598	HP:0000364	Hearing abnormality	2	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0000598	HP:0000370	Abnormality of the middle ear	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000598	HP:0000364	Hearing abnormality	2	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0000598	HP:0000370	Abnormality of the middle ear	2	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0000598	HP:0000364	Hearing abnormality	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0000598	HP:0000364	Hearing abnormality	2	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0000598	HP:0000364	Hearing abnormality	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000598	HP:0030766	Ear pain	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000598	HP:0000359	Abnormality of the inner ear	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000598	HP:0000364	Hearing abnormality	2	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0000598	HP:0000364	Hearing abnormality	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000598	HP:0000364	Hearing abnormality	2	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0000598	HP:0000364	Hearing abnormality	2	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000598	HP:0000364	Hearing abnormality	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000598	HP:0000364	Hearing abnormality	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000598	HP:0000364	Hearing abnormality	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0000598	HP:0000364	Hearing abnormality	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0000364	Hearing abnormality	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0000364	Hearing abnormality	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000598	HP:0000364	Hearing abnormality	2	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			75
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0000598	HP:0000364	Hearing abnormality	2	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			63
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0000598	HP:0000364	Hearing abnormality	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0000364	Hearing abnormality	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0000364	Hearing abnormality	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0000370	Abnormality of the middle ear	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0000598	HP:0000364	Hearing abnormality	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0000598	HP:0000370	Abnormality of the middle ear	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0000598	HP:0000364	Hearing abnormality	2	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0000364	Hearing abnormality	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9			21
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000598	HP:0000364	Hearing abnormality	2	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0000598	HP:0000364	Hearing abnormality	2	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0000598	HP:0000364	Hearing abnormality	2	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0000598	HP:0000364	Hearing abnormality	2	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy			95
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy			95
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000598	HP:0000364	Hearing abnormality	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0000598	HP:0000364	Hearing abnormality	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000598	HP:0000364	Hearing abnormality	2	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0000598	HP:0000364	Hearing abnormality	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0000598	HP:0000364	Hearing abnormality	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000598	HP:0000364	Hearing abnormality	2	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0000598	HP:0000364	Hearing abnormality	2	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0000598	HP:0000364	Hearing abnormality	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000598	HP:0000370	Abnormality of the middle ear	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000598	HP:0000364	Hearing abnormality	2	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0000598	HP:0000356	Abnormality of the outer ear	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0000598	HP:0000364	Hearing abnormality	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0000598	HP:0000364	Hearing abnormality	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000598	HP:0000364	Hearing abnormality	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000598	HP:0012780	Neoplasm of the ear	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0000598	HP:0000364	Hearing abnormality	2	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8			3
HP:0000598	HP:0000364	Hearing abnormality	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000598	HP:0000364	Hearing abnormality	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000598	HP:0000364	Hearing abnormality	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0000598	HP:0000364	Hearing abnormality	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0000598	HP:0000364	Hearing abnormality	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000598	HP:0000364	Hearing abnormality	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000598	HP:0000364	Hearing abnormality	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0000364	Hearing abnormality	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0000598	HP:0000364	Hearing abnormality	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000598	HP:0000364	Hearing abnormality	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0000598	HP:0000364	Hearing abnormality	2	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0000598	HP:0000364	Hearing abnormality	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000598	HP:0000364	Hearing abnormality	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0000598	HP:0000364	Hearing abnormality	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0000598	HP:0000364	Hearing abnormality	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0000598	HP:0000364	Hearing abnormality	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0000598	HP:0000364	Hearing abnormality	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0000598	HP:0000359	Abnormality of the inner ear	2	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000364	Hearing abnormality	2	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000364	Hearing abnormality	2	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000598	HP:0000364	Hearing abnormality	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0000598	HP:0000364	Hearing abnormality	2	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000598	HP:0000364	Hearing abnormality	2	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0000598	HP:0000364	Hearing abnormality	2	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0000598	HP:0000364	Hearing abnormality	2	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0000364	Hearing abnormality	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0000598	HP:0000364	Hearing abnormality	2	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000598	HP:0000364	Hearing abnormality	2	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000598	HP:0000364	Hearing abnormality	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000598	HP:0000364	Hearing abnormality	2	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			71
HP:0000598	HP:0000364	Hearing abnormality	2	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000598	HP:0000364	Hearing abnormality	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000598	HP:0000364	Hearing abnormality	2	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0000598	HP:0000364	Hearing abnormality	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0000598	HP:0000364	Hearing abnormality	2	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000598	HP:0000364	Hearing abnormality	2	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome			150
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome			150
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000598	HP:0000364	Hearing abnormality	2	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82			5
HP:0000598	HP:0000364	Hearing abnormality	2	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12			5
HP:0000598	HP:0000364	Hearing abnormality	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0000598	HP:0000364	Hearing abnormality	2	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0000598	HP:0000364	Hearing abnormality	2	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness			67
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness			67
HP:0000598	HP:0000364	Hearing abnormality	2	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0000598	HP:0000364	Hearing abnormality	2	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0000598	HP:0000364	Hearing abnormality	2	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000598	HP:0000364	Hearing abnormality	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000598	HP:0000364	Hearing abnormality	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0000598	HP:0000356	Abnormality of the outer ear	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0000364	Hearing abnormality	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0000370	Abnormality of the middle ear	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0000598	HP:0000364	Hearing abnormality	2	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0000364	Hearing abnormality	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0000370	Abnormality of the middle ear	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0000364	Hearing abnormality	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0000598	HP:0000364	Hearing abnormality	2	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy			204
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy			204
HP:0000598	HP:0000364	Hearing abnormality	2	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000598	HP:0000364	Hearing abnormality	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000598	HP:0030766	Ear pain	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0000598	HP:0000364	Hearing abnormality	2	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0000598	HP:0000364	Hearing abnormality	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000598	HP:0000364	Hearing abnormality	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0000598	HP:0000364	Hearing abnormality	2	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0000598	HP:0000364	Hearing abnormality	2	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0000598	HP:0000364	Hearing abnormality	2	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0000598	HP:0000364	Hearing abnormality	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0000598	HP:0000364	Hearing abnormality	2	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0000598	HP:0000364	Hearing abnormality	2	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0000598	HP:0000364	Hearing abnormality	2	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0000598	HP:0000364	Hearing abnormality	2	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0000598	HP:0000364	Hearing abnormality	2	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0000598	HP:0000364	Hearing abnormality	2	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000598	HP:0000364	Hearing abnormality	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000598	HP:0000364	Hearing abnormality	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000598	HP:0000364	Hearing abnormality	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000598	HP:0000364	Hearing abnormality	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome			72
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome			72
HP:0000598	HP:0000364	Hearing abnormality	2	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0000598	HP:0000364	Hearing abnormality	2	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0000598	HP:0000364	Hearing abnormality	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0000598	HP:0000364	Hearing abnormality	2	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		5
HP:0000598	HP:0000364	Hearing abnormality	2	BDP1 CL E G H	55814	13652	OMIM:618257	Deafness, autosomal recessive 112			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BDP1 CL E G H	55814	13652	OMIM:618257	Deafness, autosomal recessive 112			2
HP:0000598	HP:0000364	Hearing abnormality	2	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0000598	HP:0000364	Hearing abnormality	2	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31			1
HP:0000598	HP:0000364	Hearing abnormality	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000364	Hearing abnormality	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0000598	HP:0000364	Hearing abnormality	2	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000598	HP:0000364	Hearing abnormality	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000598	HP:0000364	Hearing abnormality	2	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0000598	HP:0000364	Hearing abnormality	2	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000598	HP:0000364	Hearing abnormality	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0000598	HP:0000364	Hearing abnormality	2	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0000598	HP:0000364	Hearing abnormality	2	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000598	HP:0000364	Hearing abnormality	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000598	HP:0000364	Hearing abnormality	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0000364	Hearing abnormality	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0000598	HP:0000364	Hearing abnormality	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0000598	HP:0000364	Hearing abnormality	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0000598	HP:0000364	Hearing abnormality	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0000598	HP:0000364	Hearing abnormality	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0000598	HP:0000364	Hearing abnormality	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0000598	HP:0000364	Hearing abnormality	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0000598	HP:0000364	Hearing abnormality	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0000598	HP:0000364	Hearing abnormality	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0000598	HP:0000364	Hearing abnormality	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0000598	HP:0000364	Hearing abnormality	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0000598	HP:0000364	Hearing abnormality	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0000598	HP:0000364	Hearing abnormality	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0000598	HP:0000364	Hearing abnormality	2	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0000598	HP:0000364	Hearing abnormality	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0000598	HP:0000364	Hearing abnormality	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000598	HP:0000356	Abnormality of the outer ear	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency			1
HP:0000598	HP:0000364	Hearing abnormality	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000598	HP:0000364	Hearing abnormality	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000598	HP:0000364	Hearing abnormality	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000598	HP:0000364	Hearing abnormality	2	CABP2 CL E G H	51475	1385	OMIM:614899	Deafness, autosomal recessive 93			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy			449
HP:0000598	HP:0000364	Hearing abnormality	2	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000598	HP:0000364	Hearing abnormality	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000598	HP:0000364	Hearing abnormality	2	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia			449
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia			449
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6			449
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0000598	HP:0000364	Hearing abnormality	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0000598	HP:0000364	Hearing abnormality	2	CACNA1D CL E G H	776	1391	OMIM:614896	Sinoatrial node dysfunction and deafness			51
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5			146
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5			146
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CALM1 CL E G H	801	1442	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			18
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4			18
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CALM2 CL E G H	805	1445	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			13
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CALM3 CL E G H	808	1449	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0000598	HP:0000364	Hearing abnormality	2	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000364	Hearing abnormality	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000364	Hearing abnormality	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0000598	HP:0000364	Hearing abnormality	2	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0000598	HP:0000364	Hearing abnormality	2	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000598	HP:0000364	Hearing abnormality	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000598	HP:0000364	Hearing abnormality	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CASQ2 CL E G H	845	1513	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			129
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0000598	HP:0000364	Hearing abnormality	2	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility			12
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility			12
HP:0000598	HP:0000364	Hearing abnormality	2	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome			12
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0000598	HP:0000364	Hearing abnormality	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0000359	Abnormality of the inner ear	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0000364	Hearing abnormality	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000598	HP:0000364	Hearing abnormality	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0000598	HP:0000364	Hearing abnormality	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0000598	HP:0000364	Hearing abnormality	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0000598	HP:0000364	Hearing abnormality	2	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0000598	HP:0000364	Hearing abnormality	2	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0000598	HP:0000364	Hearing abnormality	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0000598	HP:0000364	Hearing abnormality	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0000598	HP:0000364	Hearing abnormality	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	CCDC50 CL E G H	152137	18111	OMIM:607453	DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44			35
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CCDC50 CL E G H	152137	18111	OMIM:607453	DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44			35
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27			23
HP:0000598	HP:0000364	Hearing abnormality	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0000598	HP:0000359	Abnormality of the inner ear	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0000598	HP:0012780	Neoplasm of the ear	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0000598	HP:0000364	Hearing abnormality	2	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0000598	HP:0000364	Hearing abnormality	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000598	HP:0000364	Hearing abnormality	2	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000598	HP:0000364	Hearing abnormality	2	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0000598	HP:0000364	Hearing abnormality	2	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2			38
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3			38
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19			18
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18			24
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17			19
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000598	HP:0000364	Hearing abnormality	2	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000364	Hearing abnormality	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0000598	HP:0000364	Hearing abnormality	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0000364	Hearing abnormality	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0000598	HP:0000364	Hearing abnormality	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000598	HP:0000364	Hearing abnormality	2	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000598	HP:0000364	Hearing abnormality	2	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0000598	HP:0000364	Hearing abnormality	2	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000598	HP:0000364	Hearing abnormality	2	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12			636
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12			636
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000598	HP:0000359	Abnormality of the inner ear	2	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000598	HP:0000364	Hearing abnormality	2	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000598	HP:0000364	Hearing abnormality	2	CDH23 CL E G H	64072	13733	OMIM:601067	Usher syndrome, type ID			636
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDH23 CL E G H	64072	13733	OMIM:601067	Usher syndrome, type ID			636
HP:0000598	HP:0000364	Hearing abnormality	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000598	HP:0000364	Hearing abnormality	2	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0000598	HP:0000364	Hearing abnormality	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome			114
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0000598	HP:0000364	Hearing abnormality	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0000598	HP:0000364	Hearing abnormality	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0000598	HP:0000364	Hearing abnormality	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0000598	HP:0000364	Hearing abnormality	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0000598	HP:0000364	Hearing abnormality	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0000598	HP:0000364	Hearing abnormality	2	CEACAM16 CL E G H	388551	31948	OMIM:614614	Deafness, autosomal dominant 4B			30
HP:0000598	HP:0000364	Hearing abnormality	2	CEACAM16 CL E G H	388551	31948	OMIM:618410	DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113			30
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CEACAM16 CL E G H	388551	31948	OMIM:618410	DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113			30
HP:0000598	HP:0000364	Hearing abnormality	2	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000364	Hearing abnormality	2	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0000598	HP:0000364	Hearing abnormality	2	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000598	HP:0000364	Hearing abnormality	2	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0000598	HP:0000364	Hearing abnormality	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000598	HP:0000364	Hearing abnormality	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000598	HP:0000364	Hearing abnormality	2	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000598	HP:0000359	Abnormality of the inner ear	2	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000598	HP:0000364	Hearing abnormality	2	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000598	HP:0000364	Hearing abnormality	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000598	HP:0000364	Hearing abnormality	2	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			5
HP:0000598	HP:0000364	Hearing abnormality	2	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0000598	HP:0000364	Hearing abnormality	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0000598	HP:0000364	Hearing abnormality	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000364	Hearing abnormality	2	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0000598	HP:0000364	Hearing abnormality	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency			57
HP:0000598	HP:0000364	Hearing abnormality	2	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000598	HP:0000364	Hearing abnormality	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000598	HP:0000364	Hearing abnormality	2	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0000598	HP:0000364	Hearing abnormality	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0000598	HP:0000364	Hearing abnormality	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0000359	Abnormality of the inner ear	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		515
HP:0000598	HP:0000359	Abnormality of the inner ear	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000364	Hearing abnormality	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000364	Hearing abnormality	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000364	Hearing abnormality	2	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia			515
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia			515
HP:0000598	HP:0000364	Hearing abnormality	2	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0000598	HP:0000364	Hearing abnormality	2	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000598	HP:0000359	Abnormality of the inner ear	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000598	HP:0000364	Hearing abnormality	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0000598	HP:0000364	Hearing abnormality	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		68
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0000364	Hearing abnormality	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0012780	Neoplasm of the ear	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000598	HP:0000364	Hearing abnormality	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000598	HP:0000364	Hearing abnormality	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0000598	HP:0000364	Hearing abnormality	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000364	Hearing abnormality	2	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000364	Hearing abnormality	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000598	HP:0000364	Hearing abnormality	2	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48			15
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48			15
HP:0000598	HP:0000359	Abnormality of the inner ear	2	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000598	HP:0000364	Hearing abnormality	2	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ			15
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000598	HP:0000364	Hearing abnormality	2	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0000598	HP:0000364	Hearing abnormality	2	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2			6
HP:0000598	HP:0000364	Hearing abnormality	2	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II			44
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0000364	Hearing abnormality	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0000364	Hearing abnormality	2	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0000598	HP:0000364	Hearing abnormality	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0000598	HP:0000364	Hearing abnormality	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0000598	HP:0000364	Hearing abnormality	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0000598	HP:0000364	Hearing abnormality	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0000598	HP:0000364	Hearing abnormality	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0000598	HP:0000364	Hearing abnormality	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0000598	HP:0000364	Hearing abnormality	2	CLDN14 CL E G H	23562	2035	OMIM:614035	Deafness, autosomal recessive 29			57
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLDN14 CL E G H	23562	2035	OMIM:614035	Deafness, autosomal recessive 29			57
HP:0000598	HP:0000364	Hearing abnormality	2	CLDN9 CL E G H	9080	2051	OMIM:619093	DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLDN9 CL E G H	9080	2051	OMIM:619093	DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3			13
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3			13
HP:0000598	HP:0000364	Hearing abnormality	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000598	HP:0000359	Abnormality of the inner ear	2	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000598	HP:0000364	Hearing abnormality	2	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000598	HP:0000364	Hearing abnormality	2	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA			60
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA			60
HP:0000598	HP:0000364	Hearing abnormality	2	CLRN2 CL E G H	645104	33939	OMIM:619174	DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLRN2 CL E G H	645104	33939	OMIM:619174	DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000598	HP:0000364	Hearing abnormality	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000598	HP:0000364	Hearing abnormality	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000598	HP:0000364	Hearing abnormality	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal			47
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0000364	Hearing abnormality	2	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0000598	HP:0000364	Hearing abnormality	2	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0000364	Hearing abnormality	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0000598	HP:0000364	Hearing abnormality	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0000598	HP:0000364	Hearing abnormality	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0000598	HP:0000359	Abnormality of the inner ear	2	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0000364	Hearing abnormality	2	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0000364	Hearing abnormality	2	COCH CL E G H	1690	2180	OMIM:618094	Deafness, autosomal recessive 110			46
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COCH CL E G H	1690	2180	OMIM:618094	Deafness, autosomal recessive 110			46
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000598	HP:0000364	Hearing abnormality	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000598	HP:0000364	Hearing abnormality	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000598	HP:0000364	Hearing abnormality	2	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0000598	HP:0000364	Hearing abnormality	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A1 CL E G H	1301	2186	OMIM:618533	DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37			215
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A1 CL E G H	1301	2186	OMIM:618533	DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37			215
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		215
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000598	HP:0000370	Abnormality of the middle ear	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A1 CL E G H	1301	2186	ORPHA:90654	Stickler syndrome type 2			215
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A1 CL E G H	1301	2186	ORPHA:90654	Stickler syndrome type 2			215
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II			215
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II			215
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A2 CL E G H	1302	2187	OMIM:601868	Deafness, autosomal dominant nonsyndromic sensorineural 13			222
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A2 CL E G H	1302	2187	OMIM:601868	Deafness, autosomal dominant nonsyndromic sensorineural 13			222
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A2 CL E G H	1302	2187	OMIM:609706	Deafness, autosomal recessive 53			222
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A2 CL E G H	1302	2187	OMIM:609706	Deafness, autosomal recessive 53			222
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		222
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000370	Abnormality of the middle ear	2	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000364	Hearing abnormality	2	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III			222
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III			222
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000598	HP:0000364	Hearing abnormality	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000598	HP:0000364	Hearing abnormality	2	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0000598	HP:0000370	Abnormality of the middle ear	2	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0000598	HP:0000364	Hearing abnormality	2	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0000598	HP:0000364	Hearing abnormality	2	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0000598	HP:0000370	Abnormality of the middle ear	2	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0000598	HP:0000364	Hearing abnormality	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000598	HP:0000370	Abnormality of the middle ear	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000598	HP:0000364	Hearing abnormality	2	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0000598	HP:0000364	Hearing abnormality	2	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0000598	HP:0000370	Abnormality of the middle ear	2	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0000598	HP:0000364	Hearing abnormality	2	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			284
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0000598	HP:0000370	Abnormality of the middle ear	2	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0000598	HP:0000370	Abnormality of the middle ear	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia			284
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000598	HP:0000370	Abnormality of the middle ear	2	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000598	HP:0000364	Hearing abnormality	2	COL2A1 CL E G H	1280	2200	OMIM:609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR			284
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0000598	HP:0000364	Hearing abnormality	2	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant			161
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant			161
HP:0000598	HP:0000364	Hearing abnormality	2	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive			161
HP:0000598	HP:0000364	Hearing abnormality	2	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive			174
HP:0000598	HP:0000364	Hearing abnormality	2	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked			678
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked			678
HP:0000598	HP:0000364	Hearing abnormality	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0000598	HP:0000359	Abnormality of the inner ear	2	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0000364	Hearing abnormality	2	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0000364	Hearing abnormality	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0000598	HP:0000364	Hearing abnormality	2	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000598	HP:0000364	Hearing abnormality	2	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0000598	HP:0000364	Hearing abnormality	2	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000598	HP:0000364	Hearing abnormality	2	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V			110
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V			110
HP:0000598	HP:0000364	Hearing abnormality	2	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0000598	HP:0000364	Hearing abnormality	2	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0000598	HP:0000364	Hearing abnormality	2	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0000598	HP:0000364	Hearing abnormality	2	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0000598	HP:0000364	Hearing abnormality	2	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0000598	HP:0000364	Hearing abnormality	2	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6			39
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6			39
HP:0000598	HP:0000364	Hearing abnormality	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0000598	HP:0000364	Hearing abnormality	2	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0000598	HP:0000364	Hearing abnormality	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000598	HP:0000364	Hearing abnormality	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0000598	HP:0000364	Hearing abnormality	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000598	HP:0000364	Hearing abnormality	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000364	Hearing abnormality	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000598	HP:0000364	Hearing abnormality	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2			10
HP:0000598	HP:0000364	Hearing abnormality	2	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0000598	HP:0000364	Hearing abnormality	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000598	HP:0000364	Hearing abnormality	2	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0000364	Hearing abnormality	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000598	HP:0000364	Hearing abnormality	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000598	HP:0000364	Hearing abnormality	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000598	HP:0000364	Hearing abnormality	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0000598	HP:0000364	Hearing abnormality	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000598	HP:0000364	Hearing abnormality	2	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy			46
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy			46
HP:0000598	HP:0000364	Hearing abnormality	2	CRYM CL E G H	1428	2418	OMIM:616357	DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40			15
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CRYM CL E G H	1428	2418	OMIM:616357	DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40			15
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0000598	HP:0000364	Hearing abnormality	2	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0000598	HP:0000364	Hearing abnormality	2	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy			104
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy			104
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria			38
HP:0000598	HP:0000364	Hearing abnormality	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0000598	HP:0000364	Hearing abnormality	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000598	HP:0000364	Hearing abnormality	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0000598	HP:0000364	Hearing abnormality	2	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0000598	HP:0000364	Hearing abnormality	2	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0000598	HP:0000364	Hearing abnormality	2	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis			51
HP:0000598	HP:0000364	Hearing abnormality	2	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0000598	HP:0000364	Hearing abnormality	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0000598	HP:0000364	Hearing abnormality	2	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I			112
HP:0000598	HP:0000364	Hearing abnormality	2	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I			73
HP:0000598	HP:0000356	Abnormality of the outer ear	2	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0000598	HP:0000370	Abnormality of the middle ear	2	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0000598	HP:0000364	Hearing abnormality	2	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0000598	HP:0000364	Hearing abnormality	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0000598	HP:0000364	Hearing abnormality	2	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2			2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0000598	HP:0000364	Hearing abnormality	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0000364	Hearing abnormality	2	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0000364	Hearing abnormality	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0000364	Hearing abnormality	2	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			36
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			36
HP:0000598	HP:0000364	Hearing abnormality	2	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0000598	HP:0000364	Hearing abnormality	2	DCDC2 CL E G H	51473	18141	OMIM:610212	Deafness, autosomal recessive 66			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DCDC2 CL E G H	51473	18141	OMIM:610212	Deafness, autosomal recessive 66			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0000598	HP:0000364	Hearing abnormality	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0000364	Hearing abnormality	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency			94
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000598	HP:0000364	Hearing abnormality	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0000364	Hearing abnormality	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0012780	Neoplasm of the ear	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0000359	Abnormality of the inner ear	2	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0000364	Hearing abnormality	2	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0000364	Hearing abnormality	2	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0000598	HP:0000364	Hearing abnormality	2	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome			57
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000598	HP:0000364	Hearing abnormality	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000598	HP:0000364	Hearing abnormality	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0000598	HP:0000364	Hearing abnormality	2	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy			263
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy			263
HP:0000598	HP:0000364	Hearing abnormality	2	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000598	HP:0000364	Hearing abnormality	2	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000364	Hearing abnormality	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000364	Hearing abnormality	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000364	Hearing abnormality	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0000364	Hearing abnormality	2	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000364	Hearing abnormality	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000364	Hearing abnormality	2	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040282 - Frequent		59
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0000364	Hearing abnormality	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000598	HP:0000364	Hearing abnormality	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000364	Hearing abnormality	2	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64			11
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64			11
HP:0000598	HP:0000364	Hearing abnormality	2	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1			118
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1			118
HP:0000598	HP:0000364	Hearing abnormality	2	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1			8
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0000598	HP:0000364	Hearing abnormality	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0000598	HP:0000364	Hearing abnormality	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0000598	HP:0000364	Hearing abnormality	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0000598	HP:0000364	Hearing abnormality	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0000598	HP:0000364	Hearing abnormality	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0000598	HP:0000364	Hearing abnormality	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0000598	HP:0000364	Hearing abnormality	2	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0000364	Hearing abnormality	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0000598	HP:0000364	Hearing abnormality	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0000598	HP:0000364	Hearing abnormality	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0000598	HP:0000364	Hearing abnormality	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0000364	Hearing abnormality	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0000364	Hearing abnormality	2	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0000598	HP:0000364	Hearing abnormality	2	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1			3
HP:0000598	HP:0000364	Hearing abnormality	2	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1			3
HP:0000598	HP:0000364	Hearing abnormality	2	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss			3
HP:0000598	HP:0000364	Hearing abnormality	2	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0000364	Hearing abnormality	2	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy			1496
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy			1496
HP:0000598	HP:0000364	Hearing abnormality	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0000598	HP:0000364	Hearing abnormality	2	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive			48
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive			48
HP:0000598	HP:0000364	Hearing abnormality	2	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71			3
HP:0000598	HP:0000364	Hearing abnormality	2	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0000598	HP:0000364	Hearing abnormality	2	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13			116
HP:0000598	HP:0000364	Hearing abnormality	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0000598	HP:0000364	Hearing abnormality	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0000598	HP:0000364	Hearing abnormality	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0000598	HP:0000364	Hearing abnormality	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0000598	HP:0000364	Hearing abnormality	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0000598	HP:0000364	Hearing abnormality	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18			62
HP:0000598	HP:0000364	Hearing abnormality	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0000598	HP:0000364	Hearing abnormality	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000364	Hearing abnormality	2	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37			21
HP:0000598	HP:0000364	Hearing abnormality	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0000598	HP:0000364	Hearing abnormality	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0000598	HP:0000364	Hearing abnormality	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0000598	HP:0000364	Hearing abnormality	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0000598	HP:0000364	Hearing abnormality	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0000598	HP:0000364	Hearing abnormality	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0000598	HP:0000364	Hearing abnormality	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0000598	HP:0000364	Hearing abnormality	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0000598	HP:0000364	Hearing abnormality	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0000598	HP:0000364	Hearing abnormality	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		5
HP:0000598	HP:0000364	Hearing abnormality	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0000598	HP:0000364	Hearing abnormality	2	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0000598	HP:0000364	Hearing abnormality	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0000598	HP:0000364	Hearing abnormality	2	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0000598	HP:0000364	Hearing abnormality	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000598	HP:0000364	Hearing abnormality	2	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0000598	HP:0000364	Hearing abnormality	2	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant			145
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant			145
HP:0000598	HP:0000364	Hearing abnormality	2	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0000598	HP:0000364	Hearing abnormality	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0000598	HP:0000364	Hearing abnormality	2	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency			217
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive			217
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0000598	HP:0000364	Hearing abnormality	2	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy			55
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy			55
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0000598	HP:0000364	Hearing abnormality	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0000598	HP:0000364	Hearing abnormality	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000598	HP:0000364	Hearing abnormality	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0000598	HP:0000364	Hearing abnormality	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000598	HP:0000364	Hearing abnormality	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000598	HP:0000364	Hearing abnormality	2	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy			358
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy			358
HP:0000598	HP:0000364	Hearing abnormality	2	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy			747
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy			747
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0000598	HP:0000364	Hearing abnormality	2	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1			38
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1			38
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0000598	HP:0000364	Hearing abnormality	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000598	HP:0000364	Hearing abnormality	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0000598	HP:0000364	Hearing abnormality	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0000598	HP:0000364	Hearing abnormality	2	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia			4
HP:0000598	HP:0000364	Hearing abnormality	2	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0000598	HP:0000364	Hearing abnormality	2	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000598	HP:0000364	Hearing abnormality	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0000598	HP:0000364	Hearing abnormality	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000598	HP:0000364	Hearing abnormality	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000598	HP:0000364	Hearing abnormality	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0000598	HP:0000364	Hearing abnormality	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0000598	HP:0000364	Hearing abnormality	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0000598	HP:0000364	Hearing abnormality	2	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0000598	HP:0000364	Hearing abnormality	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0000598	HP:0000364	Hearing abnormality	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0000598	HP:0000364	Hearing abnormality	2	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3			6
HP:0000598	HP:0000364	Hearing abnormality	2	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EDN1 CL E G H	1906	3176	OMIM:612798	Question mark ears, isolated			6
HP:0000598	HP:0000364	Hearing abnormality	2	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0000598	HP:0000364	Hearing abnormality	2	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0000598	HP:0000364	Hearing abnormality	2	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome			67
HP:0000598	HP:0000364	Hearing abnormality	2	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0000364	Hearing abnormality	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0000364	Hearing abnormality	2	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0000598	HP:0000364	Hearing abnormality	2	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0000598	HP:0000364	Hearing abnormality	2	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0000598	HP:0000364	Hearing abnormality	2	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome			55
HP:0000598	HP:0000364	Hearing abnormality	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		1
HP:0000598	HP:0000364	Hearing abnormality	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0000598	HP:0000364	Hearing abnormality	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0000364	Hearing abnormality	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0000598	HP:0000364	Hearing abnormality	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0000598	HP:0000364	Hearing abnormality	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0000598	HP:0000364	Hearing abnormality	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0000598	HP:0000364	Hearing abnormality	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000598	HP:0000364	Hearing abnormality	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0000364	Hearing abnormality	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0000364	Hearing abnormality	2	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0000598	HP:0000364	Hearing abnormality	2	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	ELMOD3 CL E G H	84173	26158	OMIM:619500	DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ELMOD3 CL E G H	84173	26158	OMIM:619500	DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81			1
HP:0000598	HP:0000364	Hearing abnormality	2	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0000364	Hearing abnormality	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0000364	Hearing abnormality	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0000364	Hearing abnormality	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0000364	Hearing abnormality	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000598	HP:0000364	Hearing abnormality	2	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000598	HP:0000364	Hearing abnormality	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000598	HP:0000364	Hearing abnormality	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000598	HP:0000364	Hearing abnormality	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0000598	HP:0000364	Hearing abnormality	2	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000598	HP:0000364	Hearing abnormality	2	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0000598	HP:0000364	Hearing abnormality	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia			43
HP:0000598	HP:0000364	Hearing abnormality	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000598	HP:0000364	Hearing abnormality	2	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0000364	Hearing abnormality	2	EPS8 CL E G H	2059	3420	OMIM:615974	Deafness, autosomal recessive 102			2
HP:0000598	HP:0000364	Hearing abnormality	2	EPS8L2 CL E G H	64787	21296	OMIM:617637	DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106			2
HP:0000598	HP:0000364	Hearing abnormality	2	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0000598	HP:0000364	Hearing abnormality	2	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0000598	HP:0000364	Hearing abnormality	2	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2			77
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2			77
HP:0000598	HP:0000364	Hearing abnormality	2	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0000598	HP:0000364	Hearing abnormality	2	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000598	HP:0000359	Abnormality of the inner ear	2	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000598	HP:0000364	Hearing abnormality	2	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0000598	HP:0000364	Hearing abnormality	2	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement			33
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement			33
HP:0000598	HP:0000359	Abnormality of the inner ear	2	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000598	HP:0000364	Hearing abnormality	2	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000598	HP:0000364	Hearing abnormality	2	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000598	HP:0000359	Abnormality of the inner ear	2	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0000364	Hearing abnormality	2	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0000364	Hearing abnormality	2	ESRRB CL E G H	2103	3473	OMIM:608565	DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35			78
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ESRRB CL E G H	2103	3473	OMIM:608565	DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35			78
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000598	HP:0000364	Hearing abnormality	2	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000598	HP:0000364	Hearing abnormality	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000598	HP:0000364	Hearing abnormality	2	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000598	HP:0000364	Hearing abnormality	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent		102
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0000359	Abnormality of the inner ear	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0000364	Hearing abnormality	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0000359	Abnormality of the inner ear	2	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0000364	Hearing abnormality	2	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000359	Abnormality of the inner ear	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000364	Hearing abnormality	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000359	Abnormality of the inner ear	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000364	Hearing abnormality	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0012780	Neoplasm of the ear	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000359	Abnormality of the inner ear	2	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000364	Hearing abnormality	2	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0000598	HP:0000364	Hearing abnormality	2	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000364	Hearing abnormality	2	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0000598	HP:0000364	Hearing abnormality	2	EYA4 CL E G H	2070	3522	OMIM:601316	Deafness, autosomal dominant nonsyndromic sensorineural 10			111
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EYA4 CL E G H	2070	3522	OMIM:601316	Deafness, autosomal dominant nonsyndromic sensorineural 10			111
HP:0000598	HP:0000364	Hearing abnormality	2	EYA4 CL E G H	2070	3522	ORPHA:217622	Sensorineural deafness with dilated cardiomyopathy			111
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EYA4 CL E G H	2070	3522	ORPHA:217622	Sensorineural deafness with dilated cardiomyopathy			111
HP:0000598	HP:0000364	Hearing abnormality	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000598	HP:0000370	Abnormality of the middle ear	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0000598	HP:0000356	Abnormality of the outer ear	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0000598	HP:0000364	Hearing abnormality	2	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000364	Hearing abnormality	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000364	Hearing abnormality	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0000364	Hearing abnormality	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0000598	HP:0000364	Hearing abnormality	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0000598	HP:0000364	Hearing abnormality	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0000598	HP:0000364	Hearing abnormality	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional		58
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0000598	HP:0000364	Hearing abnormality	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0000598	HP:0000364	Hearing abnormality	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0000598	HP:0000364	Hearing abnormality	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000598	HP:0000364	Hearing abnormality	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0000598	HP:0000364	Hearing abnormality	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000598	HP:0000364	Hearing abnormality	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0000598	HP:0000364	Hearing abnormality	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0000364	Hearing abnormality	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0000598	HP:0000364	Hearing abnormality	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0000598	HP:0000364	Hearing abnormality	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0000598	HP:0000364	Hearing abnormality	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0000598	HP:0000364	Hearing abnormality	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0000598	HP:0000364	Hearing abnormality	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0000598	HP:0000364	Hearing abnormality	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0000598	HP:0000364	Hearing abnormality	2	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0000598	HP:0000364	Hearing abnormality	2	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0000598	HP:0000364	Hearing abnormality	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000598	HP:0000364	Hearing abnormality	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0000598	HP:0000364	Hearing abnormality	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0000364	Hearing abnormality	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000598	HP:0000364	Hearing abnormality	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000598	HP:0000364	Hearing abnormality	2	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000598	HP:0000364	Hearing abnormality	2	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation			37
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation			37
HP:0000598	HP:0000364	Hearing abnormality	2	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000598	HP:0000364	Hearing abnormality	2	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy
HP:0000598	HP:0000364	Hearing abnormality	2	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000364	Hearing abnormality	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000364	Hearing abnormality	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0000598	HP:0000364	Hearing abnormality	2	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0000359	Abnormality of the inner ear	2	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0000364	Hearing abnormality	2	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0000359	Abnormality of the inner ear	2	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0000364	Hearing abnormality	2	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0000364	Hearing abnormality	2	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000598	HP:0000364	Hearing abnormality	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0000598	HP:0000364	Hearing abnormality	2	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia			17
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia			17
HP:0000598	HP:0000364	Hearing abnormality	2	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0000598	HP:0000364	Hearing abnormality	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0000598	HP:0000364	Hearing abnormality	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0000598	HP:0000364	Hearing abnormality	2	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0000598	HP:0000364	Hearing abnormality	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0000598	HP:0000364	Hearing abnormality	2	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome			75
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome			75
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome			172
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1			172
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1			172
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0000598	HP:0000359	Abnormality of the inner ear	2	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0000598	HP:0000359	Abnormality of the inner ear	2	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent		175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1			175
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1			175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000359	Abnormality of the inner ear	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome			145
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly			145
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0000359	Abnormality of the inner ear	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0000598	HP:0000364	Hearing abnormality	2	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0000598	HP:0000364	Hearing abnormality	2	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy			36
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy			36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0000364	Hearing abnormality	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0000598	HP:0000364	Hearing abnormality	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0000598	HP:0000364	Hearing abnormality	2	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0000598	HP:0000364	Hearing abnormality	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0000598	HP:0000364	Hearing abnormality	2	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0000598	HP:0000364	Hearing abnormality	2	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy			184
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy			184
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0000598	HP:0000364	Hearing abnormality	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0000598	HP:0000364	Hearing abnormality	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0000598	HP:0000364	Hearing abnormality	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000598	HP:0000364	Hearing abnormality	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked			493
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0000598	HP:0000364	Hearing abnormality	2	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0000598	HP:0000364	Hearing abnormality	2	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1			493
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0000598	HP:0000364	Hearing abnormality	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0000598	HP:0000364	Hearing abnormality	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0000598	HP:0000364	Hearing abnormality	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0000598	HP:0000364	Hearing abnormality	2	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0000598	HP:0000364	Hearing abnormality	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0000598	HP:0000364	Hearing abnormality	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0000598	HP:0000364	Hearing abnormality	2	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia			4
HP:0000598	HP:0000364	Hearing abnormality	2	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0000598	HP:0000364	Hearing abnormality	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000598	HP:0012780	Neoplasm of the ear	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000598	HP:0000364	Hearing abnormality	2	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome			63
HP:0000598	HP:0000364	Hearing abnormality	2	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0000598	HP:0000364	Hearing abnormality	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0000598	HP:0000364	Hearing abnormality	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0000598	HP:0000364	Hearing abnormality	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0000598	HP:0000364	Hearing abnormality	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0000598	HP:0000359	Abnormality of the inner ear	2	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct			33
HP:0000598	HP:0000364	Hearing abnormality	2	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct			33
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct			33
HP:0000598	HP:0000359	Abnormality of the inner ear	2	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		33
HP:0000598	HP:0000359	Abnormality of the inner ear	2	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0000598	HP:0000364	Hearing abnormality	2	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0000598	HP:0000364	Hearing abnormality	2	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0000598	HP:0000364	Hearing abnormality	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0000598	HP:0000364	Hearing abnormality	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000598	HP:0000364	Hearing abnormality	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000598	HP:0000364	Hearing abnormality	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000598	HP:0000364	Hearing abnormality	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent		353
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000598	HP:0000364	Hearing abnormality	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent		263
HP:0000598	HP:0000364	Hearing abnormality	2	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0000598	HP:0000364	Hearing abnormality	2	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0000598	HP:0000364	Hearing abnormality	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000598	HP:0000370	Abnormality of the middle ear	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000598	HP:0000364	Hearing abnormality	2	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0000598	HP:0000364	Hearing abnormality	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0000598	HP:0000364	Hearing abnormality	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0000598	HP:0000364	Hearing abnormality	2	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0000598	HP:0000364	Hearing abnormality	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0000598	HP:0000364	Hearing abnormality	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0000598	HP:0000364	Hearing abnormality	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0000598	HP:0000370	Abnormality of the middle ear	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0000598	HP:0000364	Hearing abnormality	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0000598	HP:0000364	Hearing abnormality	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0000598	HP:0000364	Hearing abnormality	2	GAB1 CL E G H	2549	4066	OMIM:605428	Deafness, autosomal recessive 26			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GAB1 CL E G H	2549	4066	OMIM:605428	Deafness, autosomal recessive 26			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0000364	Hearing abnormality	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000598	HP:0000364	Hearing abnormality	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0000598	HP:0000364	Hearing abnormality	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0000598	HP:0000364	Hearing abnormality	2	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0000598	HP:0000364	Hearing abnormality	2	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0000598	HP:0000364	Hearing abnormality	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0000364	Hearing abnormality	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0000364	Hearing abnormality	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0000598	HP:0000364	Hearing abnormality	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0000598	HP:0000364	Hearing abnormality	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0000598	HP:0000364	Hearing abnormality	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41			1
HP:0000598	HP:0000364	Hearing abnormality	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0000598	HP:0000364	Hearing abnormality	2	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0000598	HP:0000364	Hearing abnormality	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000598	HP:0000364	Hearing abnormality	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000598	HP:0000364	Hearing abnormality	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0000598	HP:0000364	Hearing abnormality	2	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000598	HP:0000364	Hearing abnormality	2	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0000598	HP:0000364	Hearing abnormality	2	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy			35
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy			35
HP:0000598	HP:0000364	Hearing abnormality	2	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0000598	HP:0000364	Hearing abnormality	2	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000598	HP:0000364	Hearing abnormality	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0000598	HP:0000364	Hearing abnormality	2	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0000598	HP:0000364	Hearing abnormality	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0000598	HP:0000364	Hearing abnormality	2	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0000598	HP:0000364	Hearing abnormality	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0000598	HP:0000364	Hearing abnormality	2	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000598	HP:0000364	Hearing abnormality	2	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome			52
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome			52
HP:0000598	HP:0000364	Hearing abnormality	2	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0000598	HP:0000364	Hearing abnormality	2	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0000598	HP:0000364	Hearing abnormality	2	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0000364	Hearing abnormality	2	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4			64
HP:0000598	HP:0000364	Hearing abnormality	2	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0000598	HP:0000364	Hearing abnormality	2	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0000598	HP:0000364	Hearing abnormality	2	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay			14
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0000598	HP:0000364	Hearing abnormality	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000598	HP:0000364	Hearing abnormality	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0000364	Hearing abnormality	2	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15			40
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15			40
HP:0000598	HP:0000364	Hearing abnormality	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0000598	HP:0000364	Hearing abnormality	2	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0000598	HP:0000364	Hearing abnormality	2	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0000598	HP:0000364	Hearing abnormality	2	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000598	HP:0000364	Hearing abnormality	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0000598	HP:0000364	Hearing abnormality	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0000364	Hearing abnormality	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0000364	Hearing abnormality	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0000364	Hearing abnormality	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0000598	HP:0000364	Hearing abnormality	2	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1			107
HP:0000598	HP:0000364	Hearing abnormality	2	GJB2 CL E G H	2706	4284	OMIM:601544	Deafness, autosomal dominant nonsyndromic sensorineural 3			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB2 CL E G H	2706	4284	OMIM:601544	Deafness, autosomal dominant nonsyndromic sensorineural 3			199
HP:0000598	HP:0000364	Hearing abnormality	2	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A			199
HP:0000598	HP:0000359	Abnormality of the inner ear	2	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0000364	Hearing abnormality	2	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0000364	Hearing abnormality	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0000598	HP:0000364	Hearing abnormality	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0000598	HP:0000364	Hearing abnormality	2	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0000598	HP:0000364	Hearing abnormality	2	GJB2 CL E G H	2706	4284	OMIM:148350	Keratoderma, palmoplantar, with deafness			199
HP:0000598	HP:0000364	Hearing abnormality	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000598	HP:0000364	Hearing abnormality	2	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness			199
HP:0000598	HP:0000364	Hearing abnormality	2	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0000364	Hearing abnormality	2	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome			199
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome			199
HP:0000598	HP:0000364	Hearing abnormality	2	GJB3 CL E G H	2707	4285	OMIM:612644	Deafness, autosomal dominant 2B			74
HP:0000598	HP:0000364	Hearing abnormality	2	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A			74
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A			74
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0000598	HP:0000364	Hearing abnormality	2	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0000598	HP:0000364	Hearing abnormality	2	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0000598	HP:0000364	Hearing abnormality	2	GJB6 CL E G H	10804	4288	OMIM:612643	Deafness, autosomal dominant 3B			56
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB6 CL E G H	10804	4288	OMIM:612643	Deafness, autosomal dominant 3B			56
HP:0000598	HP:0000364	Hearing abnormality	2	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A			56
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A			56
HP:0000598	HP:0000364	Hearing abnormality	2	GJB6 CL E G H	10804	4288	OMIM:612645	Deafness, autosomal recessive 1B			56
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB6 CL E G H	10804	4288	OMIM:612645	Deafness, autosomal recessive 1B			56
HP:0000598	HP:0000359	Abnormality of the inner ear	2	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0000364	Hearing abnormality	2	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0000364	Hearing abnormality	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0000598	HP:0000364	Hearing abnormality	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000598	HP:0000364	Hearing abnormality	2	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0000598	HP:0000364	Hearing abnormality	2	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0000598	HP:0000364	Hearing abnormality	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000598	HP:0000364	Hearing abnormality	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000598	HP:0000364	Hearing abnormality	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0000598	HP:0000364	Hearing abnormality	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000598	HP:0000364	Hearing abnormality	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0000598	HP:0000364	Hearing abnormality	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0000598	HP:0000364	Hearing abnormality	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0000598	HP:0000364	Hearing abnormality	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV			270
HP:0000598	HP:0000364	Hearing abnormality	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000598	HP:0000364	Hearing abnormality	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0000598	HP:0000364	Hearing abnormality	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0000598	HP:0000364	Hearing abnormality	2	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0000364	Hearing abnormality	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0000364	Hearing abnormality	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0000364	Hearing abnormality	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000598	HP:0000364	Hearing abnormality	2	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0000598	HP:0000364	Hearing abnormality	2	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000598	HP:0000364	Hearing abnormality	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0000364	Hearing abnormality	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0000598	HP:0000364	Hearing abnormality	2	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0000598	HP:0000364	Hearing abnormality	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0000364	Hearing abnormality	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0000598	HP:0000364	Hearing abnormality	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0000598	HP:0000364	Hearing abnormality	2	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0000598	HP:0000364	Hearing abnormality	2	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000598	HP:0000364	Hearing abnormality	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000598	HP:0000364	Hearing abnormality	2	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0000364	Hearing abnormality	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0000364	Hearing abnormality	2	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000598	HP:0000364	Hearing abnormality	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000598	HP:0000364	Hearing abnormality	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0000598	HP:0000364	Hearing abnormality	2	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7
HP:0000598	HP:0000364	Hearing abnormality	2	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0000598	HP:0000364	Hearing abnormality	2	GRAP CL E G H	10750	4562	OMIM:618456	Deafness, autosomal recessive 114
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GRAP CL E G H	10750	4562	OMIM:618456	Deafness, autosomal recessive 114
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0000598	HP:0000359	Abnormality of the inner ear	2	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0000364	Hearing abnormality	2	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0000598	HP:0000364	Hearing abnormality	2	GRHL2 CL E G H	79977	2799	OMIM:608641	Deafness, autosomal dominant nonsyndromic sensorineural 28			33
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GRHL2 CL E G H	79977	2799	OMIM:608641	Deafness, autosomal dominant nonsyndromic sensorineural 28			33
HP:0000598	HP:0000364	Hearing abnormality	2	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000598	HP:0000364	Hearing abnormality	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000598	HP:0000364	Hearing abnormality	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent		80
HP:0000598	HP:0000364	Hearing abnormality	2	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0000598	HP:0000364	Hearing abnormality	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0000598	HP:0000364	Hearing abnormality	2	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25			36
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25			36
HP:0000598	HP:0000364	Hearing abnormality	2	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0000598	HP:0000364	Hearing abnormality	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0000598	HP:0000364	Hearing abnormality	2	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5			87
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5			87
HP:0000598	HP:0000364	Hearing abnormality	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0000598	HP:0000364	Hearing abnormality	2	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000598	HP:0000364	Hearing abnormality	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000598	HP:0000364	Hearing abnormality	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000364	Hearing abnormality	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0000598	HP:0000364	Hearing abnormality	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000598	HP:0000364	Hearing abnormality	2	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0000598	HP:0000364	Hearing abnormality	2	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000598	HP:0000364	Hearing abnormality	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0000598	HP:0000364	Hearing abnormality	2	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0000598	HP:0000356	Abnormality of the outer ear	2	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000598	HP:0000364	Hearing abnormality	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0000364	Hearing abnormality	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0000370	Abnormality of the middle ear	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0000356	Abnormality of the outer ear	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000598	HP:0000364	Hearing abnormality	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000598	HP:0000359	Abnormality of the inner ear	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0000598	HP:0000364	Hearing abnormality	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0000598	HP:0000364	Hearing abnormality	2	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0000598	HP:0000364	Hearing abnormality	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0000598	HP:0000364	Hearing abnormality	2	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy			2
HP:0000598	HP:0000359	Abnormality of the inner ear	2	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000364	Hearing abnormality	2	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000364	Hearing abnormality	2	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0000598	HP:0000364	Hearing abnormality	2	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2			29
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2			29
HP:0000598	HP:0000364	Hearing abnormality	2	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000598	HP:0000364	Hearing abnormality	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000598	HP:0000364	Hearing abnormality	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0000598	HP:0000364	Hearing abnormality	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0000598	HP:0000364	Hearing abnormality	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0000364	Hearing abnormality	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0000364	Hearing abnormality	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0000598	HP:0000364	Hearing abnormality	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0000598	HP:0000364	Hearing abnormality	2	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0000598	HP:0000364	Hearing abnormality	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0000598	HP:0000364	Hearing abnormality	2	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0000598	HP:0000364	Hearing abnormality	2	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040281 - Very frequent		77
HP:0000598	HP:0000364	Hearing abnormality	2	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39			39
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39			39
HP:0000598	HP:0000364	Hearing abnormality	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0000598	HP:0000364	Hearing abnormality	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000598	HP:0000364	Hearing abnormality	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0000598	HP:0000364	Hearing abnormality	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0000598	HP:0000364	Hearing abnormality	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0000364	Hearing abnormality	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0000598	HP:0000364	Hearing abnormality	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0000598	HP:0000364	Hearing abnormality	2	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0000598	HP:0000364	Hearing abnormality	2	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000598	HP:0000364	Hearing abnormality	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000598	HP:0000364	Hearing abnormality	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000598	HP:0000364	Hearing abnormality	2	HOMER2 CL E G H	9455	17513	OMIM:616707	DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HOMER2 CL E G H	9455	17513	OMIM:616707	DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68			1
HP:0000598	HP:0000364	Hearing abnormality	2	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000598	HP:0000364	Hearing abnormality	2	HOXA11 CL E G H	3207	5101	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HOXA11 CL E G H	3207	5101	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000364	Hearing abnormality	2	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000598	HP:0000364	Hearing abnormality	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0000598	HP:0000359	Abnormality of the inner ear	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0000598	HP:0012780	Neoplasm of the ear	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0000598	HP:0000359	Abnormality of the inner ear	2	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0000364	Hearing abnormality	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0000364	Hearing abnormality	2	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0000598	HP:0000364	Hearing abnormality	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0000598	HP:0000364	Hearing abnormality	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000598	HP:0000364	Hearing abnormality	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000598	HP:0000364	Hearing abnormality	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13			46
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0000364	Hearing abnormality	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0000598	HP:0000364	Hearing abnormality	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000598	HP:0000364	Hearing abnormality	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5			21
HP:0000598	HP:0000364	Hearing abnormality	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000598	HP:0000364	Hearing abnormality	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000598	HP:0000364	Hearing abnormality	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0000598	HP:0000364	Hearing abnormality	2	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0000598	HP:0000364	Hearing abnormality	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1			32
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000598	HP:0000364	Hearing abnormality	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000364	Hearing abnormality	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0000364	Hearing abnormality	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000598	HP:0000364	Hearing abnormality	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000598	HP:0000364	Hearing abnormality	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0000598	HP:0000364	Hearing abnormality	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0000598	HP:0000364	Hearing abnormality	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0000598	HP:0000364	Hearing abnormality	2	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0000598	HP:0000364	Hearing abnormality	2	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome			115
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome			115
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0000598	HP:0000364	Hearing abnormality	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0000598	HP:0000364	Hearing abnormality	2	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0000598	HP:0000364	Hearing abnormality	2	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0000598	HP:0000364	Hearing abnormality	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0000598	HP:0000364	Hearing abnormality	2	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0000598	HP:0000364	Hearing abnormality	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0000598	HP:0000364	Hearing abnormality	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000364	Hearing abnormality	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000364	Hearing abnormality	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0000598	HP:0000364	Hearing abnormality	2	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A			4
HP:0000598	HP:0000364	Hearing abnormality	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0000598	HP:0000364	Hearing abnormality	2	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51			196
HP:0000598	HP:0000364	Hearing abnormality	2	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia			9
HP:0000598	HP:0000364	Hearing abnormality	2	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked			48
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive			94
HP:0000598	HP:0000364	Hearing abnormality	2	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42			42
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42			42
HP:0000598	HP:0000364	Hearing abnormality	2	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0000598	HP:0000364	Hearing abnormality	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000598	HP:0000364	Hearing abnormality	2	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0000598	HP:0000364	Hearing abnormality	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0000364	Hearing abnormality	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000598	HP:0000356	Abnormality of the outer ear	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0000598	HP:0000356	Abnormality of the outer ear	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000598	HP:0000356	Abnormality of the outer ear	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000598	HP:0000356	Abnormality of the outer ear	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000598	HP:0000356	Abnormality of the outer ear	2	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0000598	HP:0000364	Hearing abnormality	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0000598	HP:0000356	Abnormality of the outer ear	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0000598	HP:0000356	Abnormality of the outer ear	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0000598	HP:0000356	Abnormality of the outer ear	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0000598	HP:0000356	Abnormality of the outer ear	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000598	HP:0000356	Abnormality of the outer ear	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000598	HP:0000364	Hearing abnormality	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000598	HP:0000356	Abnormality of the outer ear	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0012780	Neoplasm of the ear	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0000598	HP:0000364	Hearing abnormality	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0000598	HP:0000364	Hearing abnormality	2	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0000598	HP:0000364	Hearing abnormality	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0000598	HP:0000370	Abnormality of the middle ear	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0000598	HP:0000356	Abnormality of the outer ear	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0000598	HP:0000364	Hearing abnormality	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0000598	HP:0000364	Hearing abnormality	2	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0000598	HP:0000364	Hearing abnormality	2	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1			4
HP:0000598	HP:0000364	Hearing abnormality	2	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0000598	HP:0000364	Hearing abnormality	2	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0000598	HP:0000364	Hearing abnormality	2	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish			3
HP:0000598	HP:0000364	Hearing abnormality	2	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040283 - Occasional		177
HP:0000598	HP:0000364	Hearing abnormality	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0000598	HP:0000356	Abnormality of the outer ear	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000598	HP:0000364	Hearing abnormality	2	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0000598	HP:0000370	Abnormality of the middle ear	2	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0000598	HP:0000364	Hearing abnormality	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0000598	HP:0000370	Abnormality of the middle ear	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type			140
HP:0000598	HP:0000370	Abnormality of the middle ear	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0000598	HP:0000356	Abnormality of the outer ear	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0000598	HP:0000364	Hearing abnormality	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0000598	HP:0000364	Hearing abnormality	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0000598	HP:0000359	Abnormality of the inner ear	2	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0000598	HP:0012780	Neoplasm of the ear	2	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0000598	HP:0000364	Hearing abnormality	2	KARS1 CL E G H	3735	6215	OMIM:613916	Deafness, autosomal recessive 89
HP:0000598	HP:0000364	Hearing abnormality	2	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000598	HP:0000364	Hearing abnormality	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0000598	HP:0000364	Hearing abnormality	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0000598	HP:0000364	Hearing abnormality	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant			141
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1			145
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13			17
HP:0000598	HP:0000364	Hearing abnormality	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0000598	HP:0000364	Hearing abnormality	2	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0000598	HP:0000364	Hearing abnormality	2	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2			148
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2			148
HP:0000598	HP:0000364	Hearing abnormality	2	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0000598	HP:0000364	Hearing abnormality	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000598	HP:0000364	Hearing abnormality	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0000598	HP:0000364	Hearing abnormality	2	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0000598	HP:0000359	Abnormality of the inner ear	2	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct			121
HP:0000598	HP:0000364	Hearing abnormality	2	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct			121
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct			121
HP:0000598	HP:0000359	Abnormality of the inner ear	2	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0000598	HP:0000359	Abnormality of the inner ear	2	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		121
HP:0000598	HP:0000364	Hearing abnormality	2	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0000598	HP:0000364	Hearing abnormality	2	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0000364	Hearing abnormality	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0000598	HP:0000364	Hearing abnormality	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0000598	HP:0000364	Hearing abnormality	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0000598	HP:0000364	Hearing abnormality	2	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0000598	HP:0000364	Hearing abnormality	2	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0000598	HP:0000364	Hearing abnormality	2	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0000598	HP:0000364	Hearing abnormality	2	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0000598	HP:0000364	Hearing abnormality	2	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1			730
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1			730
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	KCNQ4 CL E G H	9132	6298	OMIM:600101	Deafness, autosomal dominant nonsyndromic sensorineural 2			76
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000598	HP:0000364	Hearing abnormality	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000598	HP:0000364	Hearing abnormality	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000598	HP:0000364	Hearing abnormality	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0000364	Hearing abnormality	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0000598	HP:0000364	Hearing abnormality	2	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000598	HP:0000364	Hearing abnormality	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0000598	HP:0000364	Hearing abnormality	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000598	HP:0000364	Hearing abnormality	2	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0000598	HP:0000364	Hearing abnormality	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000598	HP:0000364	Hearing abnormality	2	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000598	HP:0000364	Hearing abnormality	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000598	HP:0000364	Hearing abnormality	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000598	HP:0000364	Hearing abnormality	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0000364	Hearing abnormality	2	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0000598	HP:0000364	Hearing abnormality	2	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0000598	HP:0000364	Hearing abnormality	2	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000598	HP:0000364	Hearing abnormality	2	KITLG CL E G H	4254	6343	OMIM:616697	DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KITLG CL E G H	4254	6343	OMIM:616697	DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69			9
HP:0000598	HP:0000364	Hearing abnormality	2	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0000598	HP:0000364	Hearing abnormality	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0000598	HP:0000364	Hearing abnormality	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000598	HP:0000364	Hearing abnormality	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0000598	HP:0000364	Hearing abnormality	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000598	HP:0000364	Hearing abnormality	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000598	HP:0000364	Hearing abnormality	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0000598	HP:0000364	Hearing abnormality	2	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0000359	Abnormality of the inner ear	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0000364	Hearing abnormality	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000598	HP:0000364	Hearing abnormality	2	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome			196
HP:0000598	HP:0030766	Ear pain	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		27
HP:0000598	HP:0030766	Ear pain	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		23
HP:0000598	HP:0000364	Hearing abnormality	2	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D			173
HP:0000598	HP:0030766	Ear pain	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		41
HP:0000598	HP:0030766	Ear pain	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		4
HP:0000598	HP:0000364	Hearing abnormality	2	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0000598	HP:0000364	Hearing abnormality	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy			279
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy			279
HP:0000598	HP:0000364	Hearing abnormality	2	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0000598	HP:0000364	Hearing abnormality	2	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0000598	HP:0000364	Hearing abnormality	2	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0000598	HP:0000364	Hearing abnormality	2	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0000598	HP:0000364	Hearing abnormality	2	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy			286
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy			286
HP:0000598	HP:0000364	Hearing abnormality	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0000364	Hearing abnormality	2	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0000598	HP:0000364	Hearing abnormality	2	LHFPL5 CL E G H	222662	21253	OMIM:610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67			93
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LHFPL5 CL E G H	222662	21253	OMIM:610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67			93
HP:0000598	HP:0000364	Hearing abnormality	2	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism			51
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism			51
HP:0000598	HP:0000364	Hearing abnormality	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0000598	HP:0000364	Hearing abnormality	2	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0000598	HP:0000364	Hearing abnormality	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0000598	HP:0000364	Hearing abnormality	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000598	HP:0000364	Hearing abnormality	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0000598	HP:0000364	Hearing abnormality	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000598	HP:0000364	Hearing abnormality	2	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy			645
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy			645
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0000364	Hearing abnormality	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0000364	Hearing abnormality	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0000598	HP:0000364	Hearing abnormality	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000598	HP:0000364	Hearing abnormality	2	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0000598	HP:0000364	Hearing abnormality	2	LMX1A CL E G H	4009	6653	OMIM:601412	Deafness, autosomal dominant nonsyndromic sensorineural 7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0000598	HP:0000364	Hearing abnormality	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000598	HP:0000364	Hearing abnormality	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0000364	Hearing abnormality	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000598	HP:0000364	Hearing abnormality	2	LOXHD1 CL E G H	125336	26521	OMIM:613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77			278
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LOXHD1 CL E G H	125336	26521	OMIM:613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77			278
HP:0000598	HP:0000364	Hearing abnormality	2	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0000598	HP:0000364	Hearing abnormality	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0000598	HP:0000364	Hearing abnormality	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000598	HP:0000364	Hearing abnormality	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0000364	Hearing abnormality	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0000598	HP:0000364	Hearing abnormality	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0000598	HP:0000364	Hearing abnormality	2	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0000598	HP:0000364	Hearing abnormality	2	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2			124
HP:0000598	HP:0000364	Hearing abnormality	2	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0000598	HP:0000364	Hearing abnormality	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0000598	HP:0000364	Hearing abnormality	2	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata			125
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata			125
HP:0000598	HP:0000364	Hearing abnormality	2	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal			125
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal			125
HP:0000598	HP:0000364	Hearing abnormality	2	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0000598	HP:0000364	Hearing abnormality	2	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome			125
HP:0000598	HP:0000364	Hearing abnormality	2	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0000598	HP:0000364	Hearing abnormality	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0000598	HP:0000364	Hearing abnormality	2	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63			78
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63			78
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0000359	Abnormality of the inner ear	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0000364	Hearing abnormality	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0000598	HP:0000356	Abnormality of the outer ear	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0000598	HP:0000364	Hearing abnormality	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000598	HP:0000364	Hearing abnormality	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0000364	Hearing abnormality	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000598	HP:0000364	Hearing abnormality	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000598	HP:0000359	Abnormality of the inner ear	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000598	HP:0000364	Hearing abnormality	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000598	HP:0000364	Hearing abnormality	2	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness			63
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN			17
HP:0000598	HP:0000364	Hearing abnormality	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0000598	HP:0000364	Hearing abnormality	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0000598	HP:0000364	Hearing abnormality	2	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0000598	HP:0000364	Hearing abnormality	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0000364	Hearing abnormality	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0000364	Hearing abnormality	2	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis			55
HP:0000598	HP:0000364	Hearing abnormality	2	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL			55
HP:0000598	HP:0000364	Hearing abnormality	2	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0000598	HP:0000364	Hearing abnormality	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0000598	HP:0000364	Hearing abnormality	2	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly			2
HP:0000598	HP:0000364	Hearing abnormality	2	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000359	Abnormality of the inner ear	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000364	Hearing abnormality	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000364	Hearing abnormality	2	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000364	Hearing abnormality	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0000598	HP:0000364	Hearing abnormality	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000598	HP:0000364	Hearing abnormality	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0000364	Hearing abnormality	2	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25			25
HP:0000598	HP:0000364	Hearing abnormality	2	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive			25
HP:0000598	HP:0000364	Hearing abnormality	2	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49			61
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49			61
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0000598	HP:0000364	Hearing abnormality	2	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0000598	HP:0000364	Hearing abnormality	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0000598	HP:0000364	Hearing abnormality	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0000598	HP:0000364	Hearing abnormality	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0000598	HP:0000364	Hearing abnormality	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0000598	HP:0000364	Hearing abnormality	2	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			22
HP:0000598	HP:0000364	Hearing abnormality	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0000598	HP:0000364	Hearing abnormality	2	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0000598	HP:0000364	Hearing abnormality	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0000598	HP:0000364	Hearing abnormality	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000598	HP:0000364	Hearing abnormality	2	MECOM CL E G H	2122	3498	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MECOM CL E G H	2122	3498	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000598	HP:0000364	Hearing abnormality	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000598	HP:0000364	Hearing abnormality	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0000364	Hearing abnormality	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0000364	Hearing abnormality	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0000598	HP:0000364	Hearing abnormality	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000598	HP:0000364	Hearing abnormality	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0000598	HP:0000364	Hearing abnormality	2	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional		462
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000598	HP:0000364	Hearing abnormality	2	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0000598	HP:0000364	Hearing abnormality	2	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0000598	HP:0000364	Hearing abnormality	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0000364	Hearing abnormality	2	MET CL E G H	4233	7029	OMIM:616705	DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97			375
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MET CL E G H	4233	7029	OMIM:616705	DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97			375
HP:0000598	HP:0000356	Abnormality of the outer ear	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000598	HP:0000364	Hearing abnormality	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0000598	HP:0000364	Hearing abnormality	2	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0000598	HP:0000364	Hearing abnormality	2	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0000598	HP:0000364	Hearing abnormality	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0000598	HP:0000364	Hearing abnormality	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0000598	HP:0000364	Hearing abnormality	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0000598	HP:0000364	Hearing abnormality	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0000598	HP:0000364	Hearing abnormality	2	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000598	HP:0000364	Hearing abnormality	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0000598	HP:0000364	Hearing abnormality	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0000598	HP:0000364	Hearing abnormality	2	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0000598	HP:0000364	Hearing abnormality	2	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0000598	HP:0000364	Hearing abnormality	2	MITF CL E G H	4286	7105	ORPHA:42665	Tietz syndrome			91
HP:0000598	HP:0000364	Hearing abnormality	2	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0000598	HP:0000364	Hearing abnormality	2	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0000598	HP:0000364	Hearing abnormality	2	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000598	HP:0000364	Hearing abnormality	2	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome			91
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0000598	HP:0000364	Hearing abnormality	2	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0000598	HP:0000364	Hearing abnormality	2	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000598	HP:0000364	Hearing abnormality	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000598	HP:0000364	Hearing abnormality	2	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0000598	HP:0000364	Hearing abnormality	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0000598	HP:0000364	Hearing abnormality	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0000598	HP:0000364	Hearing abnormality	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0000598	HP:0000364	Hearing abnormality	2	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000598	HP:0000364	Hearing abnormality	2	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000598	HP:0000364	Hearing abnormality	2	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0000598	HP:0000364	Hearing abnormality	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000598	HP:0000364	Hearing abnormality	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0000598	HP:0000364	Hearing abnormality	2	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0000598	HP:0000364	Hearing abnormality	2	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0000598	HP:0000364	Hearing abnormality	2	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000359	Abnormality of the inner ear	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0000364	Hearing abnormality	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000598	HP:0000364	Hearing abnormality	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000598	HP:0000364	Hearing abnormality	2	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0000364	Hearing abnormality	2	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000598	HP:0000364	Hearing abnormality	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000598	HP:0000364	Hearing abnormality	2	MSRB3 CL E G H	253827	27375	OMIM:613718	Deafness, autosomal recessive 74			16
HP:0000598	HP:0000364	Hearing abnormality	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0000598	HP:0000364	Hearing abnormality	2	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0000598	HP:0000364	Hearing abnormality	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0000598	HP:0000364	Hearing abnormality	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0000598	HP:0000364	Hearing abnormality	2	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0000598	HP:0000364	Hearing abnormality	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0000598	HP:0000364	Hearing abnormality	2	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000598	HP:0000364	Hearing abnormality	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0000598	HP:0000364	Hearing abnormality	2	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy			1143
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy			1143
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0000598	HP:0000364	Hearing abnormality	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0000598	HP:0000364	Hearing abnormality	2	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0000598	HP:0000364	Hearing abnormality	2	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0000598	HP:0000364	Hearing abnormality	2	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0000598	HP:0000364	Hearing abnormality	2	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4			227
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4			227
HP:0000598	HP:0000364	Hearing abnormality	2	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0000598	HP:0000364	Hearing abnormality	2	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome			227
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome			227
HP:0000598	HP:0000364	Hearing abnormality	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0000598	HP:0000364	Hearing abnormality	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		166
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0000598	HP:0000364	Hearing abnormality	2	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0000598	HP:0000364	Hearing abnormality	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome			166
HP:0000598	HP:0000364	Hearing abnormality	2	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy			452
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy			452
HP:0000598	HP:0000364	Hearing abnormality	2	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy			1269
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy			1269
HP:0000598	HP:0000364	Hearing abnormality	2	MYH9 CL E G H	4627	7579	OMIM:603622	Deafness, autosomal dominant nonsyndromic sensorineural 17			297
HP:0000598	HP:0000364	Hearing abnormality	2	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss			297
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss			297
HP:0000598	HP:0000364	Hearing abnormality	2	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease			297
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease			297
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0000598	HP:0000364	Hearing abnormality	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000598	HP:0000364	Hearing abnormality	2	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3			387
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3			387
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0000598	HP:0000364	Hearing abnormality	2	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30			168
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30			168
HP:0000598	HP:0000364	Hearing abnormality	2	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22			179
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22			179
HP:0000598	HP:0000364	Hearing abnormality	2	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37			179
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37			179
HP:0000598	HP:0000364	Hearing abnormality	2	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11			516
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11			516
HP:0000598	HP:0000364	Hearing abnormality	2	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2			516
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2			516
HP:0000598	HP:0000359	Abnormality of the inner ear	2	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000598	HP:0000364	Hearing abnormality	2	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000598	HP:0000359	Abnormality of the inner ear	2	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000598	HP:0000364	Hearing abnormality	2	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000598	HP:0000364	Hearing abnormality	2	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000598	HP:0000364	Hearing abnormality	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000598	HP:0000364	Hearing abnormality	2	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy			217
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy			217
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0000598	HP:0000364	Hearing abnormality	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000598	HP:0000364	Hearing abnormality	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000598	HP:0000364	Hearing abnormality	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0000598	HP:0000364	Hearing abnormality	2	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0000598	HP:0000364	Hearing abnormality	2	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0000598	HP:0000364	Hearing abnormality	2	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0000598	HP:0000364	Hearing abnormality	2	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0000598	HP:0000364	Hearing abnormality	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome			48
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000598	HP:0000364	Hearing abnormality	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0000598	HP:0000364	Hearing abnormality	2	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0000598	HP:0000364	Hearing abnormality	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0000598	HP:0000364	Hearing abnormality	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0000364	Hearing abnormality	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0000598	HP:0000364	Hearing abnormality	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000364	Hearing abnormality	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000364	Hearing abnormality	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000364	Hearing abnormality	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0000598	HP:0000364	Hearing abnormality	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0000598	HP:0000364	Hearing abnormality	2	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000598	HP:0000359	Abnormality of the inner ear	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000598	HP:0000364	Hearing abnormality	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000598	HP:0000364	Hearing abnormality	2	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000598	HP:0000364	Hearing abnormality	2	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0000598	HP:0000364	Hearing abnormality	2	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D			82
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000598	HP:0000364	Hearing abnormality	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0000598	HP:0000364	Hearing abnormality	2	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0000598	HP:0000364	Hearing abnormality	2	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0000598	HP:0000364	Hearing abnormality	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0000598	HP:0000364	Hearing abnormality	2	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0000598	HP:0000364	Hearing abnormality	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0000598	HP:0000364	Hearing abnormality	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000364	Hearing abnormality	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000598	HP:0000364	Hearing abnormality	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000598	HP:0000364	Hearing abnormality	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000598	HP:0000364	Hearing abnormality	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000598	HP:0000364	Hearing abnormality	2	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000598	HP:0000364	Hearing abnormality	2	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy			167
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy			167
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000598	HP:0000364	Hearing abnormality	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0000598	HP:0000364	Hearing abnormality	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000598	HP:0030766	Ear pain	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0000598	HP:0000359	Abnormality of the inner ear	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000598	HP:0000364	Hearing abnormality	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000598	HP:0012780	Neoplasm of the ear	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000598	HP:0000359	Abnormality of the inner ear	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0000364	Hearing abnormality	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0012780	Neoplasm of the ear	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0000364	Hearing abnormality	2	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0000598	HP:0000364	Hearing abnormality	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0012780	Neoplasm of the ear	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0000598	HP:0000364	Hearing abnormality	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome			88
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			60
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0000364	Hearing abnormality	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0000364	Hearing abnormality	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000598	HP:0000364	Hearing abnormality	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0000598	HP:0012780	Neoplasm of the ear	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect			90
HP:0000598	HP:0000364	Hearing abnormality	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0000598	HP:0000364	Hearing abnormality	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0000598	HP:0000364	Hearing abnormality	2	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0000598	HP:0000364	Hearing abnormality	2	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0000598	HP:0000364	Hearing abnormality	2	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0000598	HP:0000364	Hearing abnormality	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NME5 CL E G H	8382	7853	OMIM:620032
HP:0000598	HP:0000364	Hearing abnormality	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0000598	HP:0000364	Hearing abnormality	2	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0000598	HP:0000364	Hearing abnormality	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000598	HP:0000364	Hearing abnormality	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0000598	HP:0000364	Hearing abnormality	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0000598	HP:0000364	Hearing abnormality	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0000598	HP:0000364	Hearing abnormality	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0000598	HP:0000364	Hearing abnormality	2	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0000598	HP:0000364	Hearing abnormality	2	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome			22
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome			22
HP:0000598	HP:0000364	Hearing abnormality	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000598	HP:0000364	Hearing abnormality	2	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0000598	HP:0000364	Hearing abnormality	2	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0000598	HP:0000364	Hearing abnormality	2	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000598	HP:0000364	Hearing abnormality	2	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome	.		22
HP:0000598	HP:0000364	Hearing abnormality	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0000598	HP:0000364	Hearing abnormality	2	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000598	HP:0000364	Hearing abnormality	2	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000364	Hearing abnormality	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000364	Hearing abnormality	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000364	Hearing abnormality	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0000364	Hearing abnormality	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0000364	Hearing abnormality	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000598	HP:0000364	Hearing abnormality	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0000598	HP:0000364	Hearing abnormality	2	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0000598	HP:0000364	Hearing abnormality	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0000598	HP:0000364	Hearing abnormality	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000598	HP:0000364	Hearing abnormality	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000598	HP:0000364	Hearing abnormality	2	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0000598	HP:0000364	Hearing abnormality	2	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0000359	Abnormality of the inner ear	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0000364	Hearing abnormality	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000598	HP:0000364	Hearing abnormality	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000598	HP:0000364	Hearing abnormality	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000598	HP:0000364	Hearing abnormality	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0000364	Hearing abnormality	2	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0000598	HP:0000364	Hearing abnormality	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000598	HP:0012780	Neoplasm of the ear	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0000364	Hearing abnormality	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000364	Hearing abnormality	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000364	Hearing abnormality	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0000598	HP:0000364	Hearing abnormality	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0000598	HP:0000364	Hearing abnormality	2	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000598	HP:0000364	Hearing abnormality	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000598	HP:0000364	Hearing abnormality	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0000598	HP:0000364	Hearing abnormality	2	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0000598	HP:0000364	Hearing abnormality	2	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0000598	HP:0000364	Hearing abnormality	2	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000598	HP:0000370	Abnormality of the middle ear	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0000598	HP:0000364	Hearing abnormality	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000598	HP:0000364	Hearing abnormality	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0000598	HP:0000364	Hearing abnormality	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000364	Hearing abnormality	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000598	HP:0000364	Hearing abnormality	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0000598	HP:0000364	Hearing abnormality	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0000598	HP:0000364	Hearing abnormality	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0000598	HP:0000370	Abnormality of the middle ear	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000598	HP:0000364	Hearing abnormality	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000598	HP:0000370	Abnormality of the middle ear	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000598	HP:0000364	Hearing abnormality	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0000598	HP:0000370	Abnormality of the middle ear	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0000598	HP:0000364	Hearing abnormality	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000598	HP:0000370	Abnormality of the middle ear	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0000598	HP:0000364	Hearing abnormality	2	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000598	HP:0000364	Hearing abnormality	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000598	HP:0000364	Hearing abnormality	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000598	HP:0000364	Hearing abnormality	2	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0000598	HP:0000364	Hearing abnormality	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000598	HP:0000364	Hearing abnormality	2	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0000598	HP:0000364	Hearing abnormality	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0000359	Abnormality of the inner ear	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0000364	Hearing abnormality	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0000598	HP:0000364	Hearing abnormality	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0000598	HP:0000364	Hearing abnormality	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0000598	HP:0000364	Hearing abnormality	2	OSBPL2 CL E G H	9885	15761	OMIM:616340	DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	OSBPL2 CL E G H	9885	15761	OMIM:616340	DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0000598	HP:0000364	Hearing abnormality	2	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0000598	HP:0000370	Abnormality of the middle ear	2	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0000598	HP:0000364	Hearing abnormality	2	OTOA CL E G H	146183	16378	OMIM:607039	Deafness, autosomal recessive 22			58
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	OTOA CL E G H	146183	16378	OMIM:607039	Deafness, autosomal recessive 22			58
HP:0000598	HP:0000364	Hearing abnormality	2	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9			383
HP:0000598	HP:0000370	Abnormality of the middle ear	2	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9			383
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9			383
HP:0000598	HP:0000364	Hearing abnormality	2	OTOG CL E G H	340990	8516	OMIM:614945	Deafness, autosomal recessive 18B			165
HP:0000598	HP:0000364	Hearing abnormality	2	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B			105
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B			105
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000598	HP:0000364	Hearing abnormality	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000598	HP:0000364	Hearing abnormality	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0000598	HP:0000359	Abnormality of the inner ear	2	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0000598	HP:0000364	Hearing abnormality	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0000598	HP:0000364	Hearing abnormality	2	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41			23
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41			23
HP:0000598	HP:0000364	Hearing abnormality	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0000598	HP:0000364	Hearing abnormality	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0000598	HP:0000364	Hearing abnormality	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000364	Hearing abnormality	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000364	Hearing abnormality	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000598	HP:0000364	Hearing abnormality	2	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome			39
HP:0000598	HP:0000364	Hearing abnormality	2	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0000598	HP:0000364	Hearing abnormality	2	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome			59
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome			59
HP:0000598	HP:0000364	Hearing abnormality	2	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000598	HP:0000364	Hearing abnormality	2	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0000598	HP:0000364	Hearing abnormality	2	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000598	HP:0000364	Hearing abnormality	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0000598	HP:0000364	Hearing abnormality	2	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040283 - Occasional		194
HP:0000598	HP:0000364	Hearing abnormality	2	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		194
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000598	HP:0000364	Hearing abnormality	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000598	HP:0000364	Hearing abnormality	2	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000598	HP:0000364	Hearing abnormality	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000364	Hearing abnormality	2	PCDH15 CL E G H	65217	14674	OMIM:609533	Deafness, autosomal recessive 23			352
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PCDH15 CL E G H	65217	14674	OMIM:609533	Deafness, autosomal recessive 23			352
HP:0000598	HP:0000359	Abnormality of the inner ear	2	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000598	HP:0000364	Hearing abnormality	2	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000598	HP:0000364	Hearing abnormality	2	PCDH15 CL E G H	65217	14674	OMIM:601067	Usher syndrome, type ID			352
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PCDH15 CL E G H	65217	14674	OMIM:601067	Usher syndrome, type ID			352
HP:0000598	HP:0000364	Hearing abnormality	2	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF			352
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF			352
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0000598	HP:0000364	Hearing abnormality	2	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0000598	HP:0000364	Hearing abnormality	2	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0000598	HP:0000364	Hearing abnormality	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0000598	HP:0000364	Hearing abnormality	2	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0000598	HP:0000364	Hearing abnormality	2	PDE1C CL E G H	5137	8776	OMIM:618140	Deafness, autosomal dominant 74			3
HP:0000598	HP:0000364	Hearing abnormality	2	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000598	HP:0000364	Hearing abnormality	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000598	HP:0000364	Hearing abnormality	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000598	HP:0000364	Hearing abnormality	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000598	HP:0000364	Hearing abnormality	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000598	HP:0000364	Hearing abnormality	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5			9
HP:0000598	HP:0000364	Hearing abnormality	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000598	HP:0030766	Ear pain	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0000598	HP:0000364	Hearing abnormality	2	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0000598	HP:0000364	Hearing abnormality	2	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0000598	HP:0000364	Hearing abnormality	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0000598	HP:0000364	Hearing abnormality	2	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6			4
HP:0000598	HP:0000364	Hearing abnormality	2	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0000598	HP:0000364	Hearing abnormality	2	PDZD7 CL E G H	79955	26257	OMIM:618003	DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57			40
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDZD7 CL E G H	79955	26257	OMIM:618003	DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57			40
HP:0000598	HP:0000359	Abnormality of the inner ear	2	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000598	HP:0000364	Hearing abnormality	2	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000598	HP:0000364	Hearing abnormality	2	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA			40
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA			40
HP:0000598	HP:0000364	Hearing abnormality	2	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC			40
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC			40
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000598	HP:0000364	Hearing abnormality	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent		66
HP:0000598	HP:0000364	Hearing abnormality	2	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0000598	HP:0000364	Hearing abnormality	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0000598	HP:0000364	Hearing abnormality	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0000598	HP:0000364	Hearing abnormality	2	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1			169
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1			169
HP:0000598	HP:0000364	Hearing abnormality	2	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000598	HP:0000364	Hearing abnormality	2	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000598	HP:0000364	Hearing abnormality	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000598	HP:0000364	Hearing abnormality	2	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000598	HP:0000364	Hearing abnormality	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000598	HP:0000364	Hearing abnormality	2	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000598	HP:0000364	Hearing abnormality	2	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0000598	HP:0000364	Hearing abnormality	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000598	HP:0000364	Hearing abnormality	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000598	HP:0000364	Hearing abnormality	2	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000598	HP:0000364	Hearing abnormality	2	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000598	HP:0000364	Hearing abnormality	2	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000598	HP:0000364	Hearing abnormality	2	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0000598	HP:0000364	Hearing abnormality	2	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000598	HP:0000364	Hearing abnormality	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000598	HP:0000364	Hearing abnormality	2	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000598	HP:0000364	Hearing abnormality	2	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000598	HP:0000364	Hearing abnormality	2	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B	.		66
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000598	HP:0000364	Hearing abnormality	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000598	HP:0000364	Hearing abnormality	2	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000598	HP:0000364	Hearing abnormality	2	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000598	HP:0000364	Hearing abnormality	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000598	HP:0000364	Hearing abnormality	2	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000598	HP:0000364	Hearing abnormality	2	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000598	HP:0000364	Hearing abnormality	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000598	HP:0000364	Hearing abnormality	2	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000598	HP:0000364	Hearing abnormality	2	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000598	HP:0000364	Hearing abnormality	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000598	HP:0000364	Hearing abnormality	2	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000598	HP:0000364	Hearing abnormality	2	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0000598	HP:0000364	Hearing abnormality	2	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000598	HP:0000364	Hearing abnormality	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000598	HP:0000364	Hearing abnormality	2	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000598	HP:0000364	Hearing abnormality	2	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0000598	HP:0000364	Hearing abnormality	2	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B			106
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B			106
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000598	HP:0000364	Hearing abnormality	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000598	HP:0000364	Hearing abnormality	2	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000598	HP:0000364	Hearing abnormality	2	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B			47
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000598	HP:0000364	Hearing abnormality	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000598	HP:0000364	Hearing abnormality	2	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000598	HP:0000364	Hearing abnormality	2	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B			99
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000598	HP:0000364	Hearing abnormality	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000598	HP:0000359	Abnormality of the inner ear	2	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000598	HP:0000364	Hearing abnormality	2	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000598	HP:0000364	Hearing abnormality	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0000598	HP:0000364	Hearing abnormality	2	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0000598	HP:0000364	Hearing abnormality	2	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000598	HP:0000364	Hearing abnormality	2	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000598	HP:0000364	Hearing abnormality	2	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000598	HP:0000364	Hearing abnormality	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000598	HP:0000364	Hearing abnormality	2	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B			72
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B			72
HP:0000598	HP:0000364	Hearing abnormality	2	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0000598	HP:0000364	Hearing abnormality	2	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0000598	HP:0000364	Hearing abnormality	2	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000598	HP:0000364	Hearing abnormality	2	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0000598	HP:0000364	Hearing abnormality	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0000598	HP:0000364	Hearing abnormality	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0000598	HP:0000364	Hearing abnormality	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0000598	HP:0000364	Hearing abnormality	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0000598	HP:0000364	Hearing abnormality	2	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0000598	HP:0000364	Hearing abnormality	2	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0000598	HP:0000364	Hearing abnormality	2	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0000598	HP:0000364	Hearing abnormality	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0000598	HP:0000364	Hearing abnormality	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0000598	HP:0000364	Hearing abnormality	2	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0000598	HP:0000364	Hearing abnormality	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0000598	HP:0000364	Hearing abnormality	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0000364	Hearing abnormality	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent		36
HP:0000598	HP:0000364	Hearing abnormality	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000598	HP:0000364	Hearing abnormality	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000598	HP:0000364	Hearing abnormality	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000598	HP:0000364	Hearing abnormality	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000598	HP:0000364	Hearing abnormality	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000598	HP:0000364	Hearing abnormality	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0000598	HP:0000364	Hearing abnormality	2	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0000598	HP:0000364	Hearing abnormality	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000598	HP:0030766	Ear pain	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000598	HP:0000364	Hearing abnormality	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0000598	HP:0000364	Hearing abnormality	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000598	HP:0000364	Hearing abnormality	2	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0000598	HP:0000364	Hearing abnormality	2	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome			51
HP:0000598	HP:0000364	Hearing abnormality	2	PJVK CL E G H	494513	29502	OMIM:610220	Deafness, autosomal recessive 59			45
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PJVK CL E G H	494513	29502	OMIM:610220	Deafness, autosomal recessive 59			45
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0000598	HP:0000364	Hearing abnormality	2	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000598	HP:0000364	Hearing abnormality	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000598	HP:0000364	Hearing abnormality	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0000598	HP:0000364	Hearing abnormality	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3			21
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000598	HP:0000364	Hearing abnormality	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional		11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0000598	HP:0000364	Hearing abnormality	2	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy			57
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy			57
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0000598	HP:0000364	Hearing abnormality	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0000598	HP:0000364	Hearing abnormality	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0000598	HP:0000364	Hearing abnormality	2	PLS1 CL E G H	5357	9090	OMIM:618787	DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PLS1 CL E G H	5357	9090	OMIM:618787	DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000598	HP:0000364	Hearing abnormality	2	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0000598	HP:0000364	Hearing abnormality	2	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness			79
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness			79
HP:0000598	HP:0000364	Hearing abnormality	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0000598	HP:0000364	Hearing abnormality	2	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0000598	HP:0000364	Hearing abnormality	2	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0000598	HP:0000364	Hearing abnormality	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0000598	HP:0000364	Hearing abnormality	2	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			47
HP:0000598	HP:0000364	Hearing abnormality	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0000598	HP:0000364	Hearing abnormality	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0000598	HP:0000364	Hearing abnormality	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000598	HP:0000364	Hearing abnormality	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000598	HP:0000364	Hearing abnormality	2	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0000598	HP:0000364	Hearing abnormality	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0000598	HP:0000364	Hearing abnormality	2	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0000598	HP:0000364	Hearing abnormality	2	PNPT1 CL E G H	87178	23166	OMIM:614934	DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70			60
HP:0000598	HP:0000364	Hearing abnormality	2	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0000598	HP:0000364	Hearing abnormality	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000598	HP:0000364	Hearing abnormality	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0000598	HP:0000364	Hearing abnormality	2	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome			1129
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0000598	HP:0000364	Hearing abnormality	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0000598	HP:0000364	Hearing abnormality	2	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0000598	HP:0000364	Hearing abnormality	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000598	HP:0000364	Hearing abnormality	2	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0000598	HP:0000364	Hearing abnormality	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0000598	HP:0000364	Hearing abnormality	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000598	HP:0000364	Hearing abnormality	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000598	HP:0000364	Hearing abnormality	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000598	HP:0000364	Hearing abnormality	2	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0000598	HP:0000364	Hearing abnormality	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0000598	HP:0000364	Hearing abnormality	2	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0000359	Abnormality of the inner ear	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.		38
HP:0000598	HP:0000364	Hearing abnormality	2	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3			38
HP:0000598	HP:0000370	Abnormality of the middle ear	2	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3			38
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3			38
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0000359	Abnormality of the inner ear	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0000364	Hearing abnormality	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0000370	Abnormality of the middle ear	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0000364	Hearing abnormality	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0000370	Abnormality of the middle ear	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0000359	Abnormality of the inner ear	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0000364	Hearing abnormality	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0000370	Abnormality of the middle ear	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000364	Hearing abnormality	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0000598	HP:0000370	Abnormality of the middle ear	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000364	Hearing abnormality	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000598	HP:0000364	Hearing abnormality	2	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0000598	HP:0000364	Hearing abnormality	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000598	HP:0000364	Hearing abnormality	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000598	HP:0000370	Abnormality of the middle ear	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0000598	HP:0000364	Hearing abnormality	2	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0000598	HP:0000364	Hearing abnormality	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0000598	HP:0000370	Abnormality of the middle ear	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0000598	HP:0000364	Hearing abnormality	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0000598	HP:0000370	Abnormality of the middle ear	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0000364	Hearing abnormality	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000598	HP:0000364	Hearing abnormality	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0000364	Hearing abnormality	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000598	HP:0000359	Abnormality of the inner ear	2	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0000364	Hearing abnormality	2	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0000370	Abnormality of the middle ear	2	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0000359	Abnormality of the inner ear	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0000364	Hearing abnormality	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0000370	Abnormality of the middle ear	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0000356	Abnormality of the outer ear	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0000598	HP:0000364	Hearing abnormality	2	POU4F3 CL E G H	5459	9220	OMIM:602459	Deafness, autosomal dominant 15			29
HP:0000598	HP:0000364	Hearing abnormality	2	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000364	Hearing abnormality	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000598	HP:0000364	Hearing abnormality	2	PPIP5K2 CL E G H	23262	29035	OMIM:618422	Deafness, autosomal recessive 100			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PPIP5K2 CL E G H	23262	29035	OMIM:618422	Deafness, autosomal recessive 100			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0000598	HP:0000364	Hearing abnormality	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0000598	HP:0000364	Hearing abnormality	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000598	HP:0000364	Hearing abnormality	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000598	HP:0000364	Hearing abnormality	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0000598	HP:0000364	Hearing abnormality	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0000364	Hearing abnormality	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0000364	Hearing abnormality	2	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy			148
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy			148
HP:0000598	HP:0000364	Hearing abnormality	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000598	HP:0000364	Hearing abnormality	2	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2			58
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0000598	HP:0000364	Hearing abnormality	2	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000598	HP:0000364	Hearing abnormality	2	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0000598	HP:0000364	Hearing abnormality	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000598	HP:0000364	Hearing abnormality	2	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000598	HP:0000364	Hearing abnormality	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0000598	HP:0000364	Hearing abnormality	2	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0000598	HP:0000364	Hearing abnormality	2	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia			34
HP:0000598	HP:0000364	Hearing abnormality	2	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0000598	HP:0000364	Hearing abnormality	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0000364	Hearing abnormality	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0000598	HP:0000364	Hearing abnormality	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000598	HP:0000364	Hearing abnormality	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0000598	HP:0000364	Hearing abnormality	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0000364	Hearing abnormality	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0000364	Hearing abnormality	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000598	HP:0000364	Hearing abnormality	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000364	Hearing abnormality	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000598	HP:0000364	Hearing abnormality	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000598	HP:0000364	Hearing abnormality	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000598	HP:0000364	Hearing abnormality	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000598	HP:0000364	Hearing abnormality	2	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0000598	HP:0000364	Hearing abnormality	2	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000598	HP:0000364	Hearing abnormality	2	PRPS1 CL E G H	5631	9462	OMIM:304500	DEAFNESS, X-LINKED 1; DFNX1			49
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPS1 CL E G H	5631	9462	OMIM:304500	DEAFNESS, X-LINKED 1; DFNX1			49
HP:0000598	HP:0000364	Hearing abnormality	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0000364	Hearing abnormality	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0000364	Hearing abnormality	2	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0000364	Hearing abnormality	2	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5			49
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000598	HP:0000364	Hearing abnormality	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0000364	Hearing abnormality	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0000364	Hearing abnormality	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0000598	HP:0000359	Abnormality of the inner ear	2	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.		4
HP:0000598	HP:0000364	Hearing abnormality	2	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0000598	HP:0000364	Hearing abnormality	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0000598	HP:0000364	Hearing abnormality	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0000598	HP:0000364	Hearing abnormality	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0000598	HP:0000364	Hearing abnormality	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0000598	HP:0000364	Hearing abnormality	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0000598	HP:0000364	Hearing abnormality	2	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy			241
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy			241
HP:0000598	HP:0000364	Hearing abnormality	2	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy			59
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy			59
HP:0000598	HP:0000364	Hearing abnormality	2	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0000598	HP:0000364	Hearing abnormality	2	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000598	HP:0000364	Hearing abnormality	2	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000598	HP:0000364	Hearing abnormality	2	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000598	HP:0000364	Hearing abnormality	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000598	HP:0000364	Hearing abnormality	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0000598	HP:0000364	Hearing abnormality	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0000598	HP:0000364	Hearing abnormality	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0000364	Hearing abnormality	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0000598	HP:0000364	Hearing abnormality	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0000598	HP:0000364	Hearing abnormality	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000598	HP:0000359	Abnormality of the inner ear	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0000598	HP:0000364	Hearing abnormality	2	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0000598	HP:0000364	Hearing abnormality	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0000359	Abnormality of the inner ear	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0000364	Hearing abnormality	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0000598	HP:0000364	Hearing abnormality	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0000598	HP:0000364	Hearing abnormality	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0000598	HP:0000364	Hearing abnormality	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0000364	Hearing abnormality	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0000598	HP:0000364	Hearing abnormality	2	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2			1
HP:0000598	HP:0000364	Hearing abnormality	2	PTPRQ CL E G H	374462	9679	OMIM:617663	Deafness, autosomal dominant 73			7
HP:0000598	HP:0000364	Hearing abnormality	2	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84			7
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84			7
HP:0000598	HP:0000364	Hearing abnormality	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000598	HP:0000364	Hearing abnormality	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000598	HP:0000364	Hearing abnormality	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0000598	HP:0000364	Hearing abnormality	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000598	HP:0000364	Hearing abnormality	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0000598	HP:0000364	Hearing abnormality	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000598	HP:0000364	Hearing abnormality	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0000598	HP:0000356	Abnormality of the outer ear	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000598	HP:0000364	Hearing abnormality	2	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0000364	Hearing abnormality	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0000598	HP:0000364	Hearing abnormality	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69			135
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000598	HP:0000364	Hearing abnormality	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000598	HP:0000364	Hearing abnormality	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0000364	Hearing abnormality	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0000598	HP:0000364	Hearing abnormality	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0000598	HP:0000364	Hearing abnormality	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0000598	HP:0000364	Hearing abnormality	2	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy			212
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy			212
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0000359	Abnormality of the inner ear	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0000364	Hearing abnormality	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0000598	HP:0000364	Hearing abnormality	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			127
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			50
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0000598	HP:0000364	Hearing abnormality	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0000598	HP:0000364	Hearing abnormality	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000598	HP:0000364	Hearing abnormality	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0000359	Abnormality of the inner ear	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0000598	HP:0000364	Hearing abnormality	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0000598	HP:0000364	Hearing abnormality	2	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy			363
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy			363
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0000598	HP:0000364	Hearing abnormality	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0000364	Hearing abnormality	2	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0000364	Hearing abnormality	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000598	HP:0000364	Hearing abnormality	2	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0000598	HP:0000364	Hearing abnormality	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0000364	Hearing abnormality	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000598	HP:0000364	Hearing abnormality	2	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24			97
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24			97
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000598	HP:0000364	Hearing abnormality	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000598	HP:0000364	Hearing abnormality	2	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0000598	HP:0000364	Hearing abnormality	2	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome			445
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000598	HP:0000364	Hearing abnormality	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0000370	Abnormality of the middle ear	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0000364	Hearing abnormality	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0000364	Hearing abnormality	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000598	HP:0000364	Hearing abnormality	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000598	HP:0000364	Hearing abnormality	2	REST CL E G H	5978	9966	OMIM:612431	DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27			7
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	REST CL E G H	5978	9966	OMIM:612431	DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27			7
HP:0000598	HP:0000364	Hearing abnormality	2	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0000598	HP:0000364	Hearing abnormality	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000598	HP:0000364	Hearing abnormality	2	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0000598	HP:0000364	Hearing abnormality	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0000598	HP:0000364	Hearing abnormality	2	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0000598	HP:0000364	Hearing abnormality	2	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0000598	HP:0000364	Hearing abnormality	2	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000598	HP:0000364	Hearing abnormality	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0000598	HP:0000364	Hearing abnormality	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0000364	Hearing abnormality	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000598	HP:0000364	Hearing abnormality	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000598	HP:0000364	Hearing abnormality	2	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21			1
HP:0000598	HP:0000364	Hearing abnormality	2	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0000359	Abnormality of the inner ear	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0000364	Hearing abnormality	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0000598	HP:0000364	Hearing abnormality	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0000364	Hearing abnormality	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000598	HP:0000364	Hearing abnormality	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000598	HP:0000364	Hearing abnormality	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0000598	HP:0000364	Hearing abnormality	2	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000364	Hearing abnormality	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000364	Hearing abnormality	2	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000598	HP:0000364	Hearing abnormality	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0000598	HP:0000364	Hearing abnormality	2	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000598	HP:0000364	Hearing abnormality	2	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0000598	HP:0000364	Hearing abnormality	2	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			90
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			90
HP:0000598	HP:0000364	Hearing abnormality	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000598	HP:0000364	Hearing abnormality	2	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000598	HP:0000364	Hearing abnormality	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000598	HP:0000364	Hearing abnormality	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000598	HP:0000364	Hearing abnormality	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000598	HP:0000364	Hearing abnormality	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0000364	Hearing abnormality	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0000364	Hearing abnormality	2	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0000598	HP:0000364	Hearing abnormality	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000598	HP:0000364	Hearing abnormality	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0000598	HP:0000364	Hearing abnormality	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000598	HP:0000364	Hearing abnormality	2	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS			200
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS			200
HP:0000598	HP:0000364	Hearing abnormality	2	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000598	HP:0000364	Hearing abnormality	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000598	HP:0000364	Hearing abnormality	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0000598	HP:0000364	Hearing abnormality	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0000598	HP:0000364	Hearing abnormality	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0000364	Hearing abnormality	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0000364	Hearing abnormality	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0000364	Hearing abnormality	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0000598	HP:0000364	Hearing abnormality	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0000598	HP:0000364	Hearing abnormality	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000359	Abnormality of the inner ear	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0000359	Abnormality of the inner ear	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000598	HP:0000364	Hearing abnormality	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0000598	HP:0000364	Hearing abnormality	2	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome			125
HP:0000598	HP:0000364	Hearing abnormality	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0000598	HP:0000364	Hearing abnormality	2	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0000598	HP:0000364	Hearing abnormality	2	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000598	HP:0000364	Hearing abnormality	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0000598	HP:0000364	Hearing abnormality	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0000598	HP:0000364	Hearing abnormality	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0000598	HP:0000364	Hearing abnormality	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000598	HP:0000364	Hearing abnormality	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0000364	Hearing abnormality	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0000364	Hearing abnormality	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0000598	HP:0000364	Hearing abnormality	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040282 - Frequent		90
HP:0000598	HP:0000370	Abnormality of the middle ear	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0000598	HP:0000356	Abnormality of the outer ear	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	RYR2 CL E G H	6262	10484	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			1103
HP:0000598	HP:0000364	Hearing abnormality	2	S1PR2 CL E G H	9294	3169	OMIM:610419	Deafness, autosomal recessive 68			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	S1PR2 CL E G H	9294	3169	OMIM:610419	Deafness, autosomal recessive 68			2
HP:0000598	HP:0000364	Hearing abnormality	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000598	HP:0000364	Hearing abnormality	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0000364	Hearing abnormality	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0000364	Hearing abnormality	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000598	HP:0000364	Hearing abnormality	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000598	HP:0000364	Hearing abnormality	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000598	HP:0000364	Hearing abnormality	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0000598	HP:0000364	Hearing abnormality	2	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0000598	HP:0000364	Hearing abnormality	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		26
HP:0000598	HP:0000364	Hearing abnormality	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0000598	HP:0000364	Hearing abnormality	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0000598	HP:0000364	Hearing abnormality	2	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0000598	HP:0000364	Hearing abnormality	2	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0000598	HP:0000364	Hearing abnormality	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000598	HP:0000364	Hearing abnormality	2	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000598	HP:0000364	Hearing abnormality	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect			126
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0000598	HP:0000364	Hearing abnormality	2	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy			1134
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy			1134
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect			1134
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000598	HP:0000364	Hearing abnormality	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0000598	HP:0000364	Hearing abnormality	2	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0000598	HP:0000364	Hearing abnormality	2	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0000598	HP:0000364	Hearing abnormality	2	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy			304
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy			304
HP:0000598	HP:0000364	Hearing abnormality	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000598	HP:0000364	Hearing abnormality	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000598	HP:0000364	Hearing abnormality	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000598	HP:0000364	Hearing abnormality	2	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2			55
HP:0000598	HP:0000364	Hearing abnormality	2	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome			237
HP:0000598	HP:0000364	Hearing abnormality	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0000598	HP:0000364	Hearing abnormality	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000598	HP:0000364	Hearing abnormality	2	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4			237
HP:0000598	HP:0000364	Hearing abnormality	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0000598	HP:0000364	Hearing abnormality	2	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome			147
HP:0000598	HP:0000364	Hearing abnormality	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0000598	HP:0000364	Hearing abnormality	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000598	HP:0000364	Hearing abnormality	2	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3			147
HP:0000598	HP:0000364	Hearing abnormality	2	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome			129
HP:0000598	HP:0000364	Hearing abnormality	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0000598	HP:0000364	Hearing abnormality	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000598	HP:0000364	Hearing abnormality	2	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1			129
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1			129
HP:0000598	HP:0000364	Hearing abnormality	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0000598	HP:0000364	Hearing abnormality	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0000598	HP:0000364	Hearing abnormality	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000598	HP:0000364	Hearing abnormality	2	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0000364	Hearing abnormality	2	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0000598	HP:0000364	Hearing abnormality	2	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0000598	HP:0000364	Hearing abnormality	2	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		16
HP:0000598	HP:0000364	Hearing abnormality	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0000364	Hearing abnormality	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0000598	HP:0000364	Hearing abnormality	2	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0000598	HP:0000364	Hearing abnormality	2	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0000598	HP:0000364	Hearing abnormality	2	SERPINB6 CL E G H	5269	8950	OMIM:613453	Deafness, autosomal recessive 91			29
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000598	HP:0000364	Hearing abnormality	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent		143
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0000364	Hearing abnormality	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0000364	Hearing abnormality	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0000598	HP:0000364	Hearing abnormality	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000598	HP:0012780	Neoplasm of the ear	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0000364	Hearing abnormality	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0000598	HP:0000364	Hearing abnormality	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0000364	Hearing abnormality	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0000364	Hearing abnormality	2	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy			223
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy			223
HP:0000598	HP:0000364	Hearing abnormality	2	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000598	HP:0000364	Hearing abnormality	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0000598	HP:0000364	Hearing abnormality	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0000598	HP:0000364	Hearing abnormality	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0000598	HP:0000364	Hearing abnormality	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000598	HP:0000364	Hearing abnormality	2	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0000598	HP:0000364	Hearing abnormality	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000598	HP:0000364	Hearing abnormality	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000598	HP:0000364	Hearing abnormality	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0000598	HP:0000364	Hearing abnormality	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0000598	HP:0000364	Hearing abnormality	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0000598	HP:0000364	Hearing abnormality	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0000598	HP:0000364	Hearing abnormality	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent		9
HP:0000598	HP:0000364	Hearing abnormality	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0000598	HP:0000364	Hearing abnormality	2	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0000364	Hearing abnormality	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0000364	Hearing abnormality	2	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0000364	Hearing abnormality	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0000364	Hearing abnormality	2	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0000598	HP:0000364	Hearing abnormality	2	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000364	Hearing abnormality	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0012780	Neoplasm of the ear	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000364	Hearing abnormality	2	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia			2
HP:0000598	HP:0000364	Hearing abnormality	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000598	HP:0000364	Hearing abnormality	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000598	HP:0000364	Hearing abnormality	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000598	HP:0000364	Hearing abnormality	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0000364	Hearing abnormality	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0000364	Hearing abnormality	2	SIX5 CL E G H	147912	10891	OMIM:610896	Branchiootorenal syndrome 2			10
HP:0000598	HP:0000364	Hearing abnormality	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0000364	Hearing abnormality	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0000364	Hearing abnormality	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000598	HP:0000364	Hearing abnormality	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000598	HP:0000364	Hearing abnormality	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0000598	HP:0000364	Hearing abnormality	2	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0000598	HP:0000364	Hearing abnormality	2	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0000598	HP:0000364	Hearing abnormality	2	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0000364	Hearing abnormality	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0000364	Hearing abnormality	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000598	HP:0000364	Hearing abnormality	2	SLC17A8 CL E G H	246213	20151	OMIM:605583	DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25			64
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC17A8 CL E G H	246213	20151	OMIM:605583	DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25			64
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000364	Hearing abnormality	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000364	Hearing abnormality	2	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0000598	HP:0000364	Hearing abnormality	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0000598	HP:0000364	Hearing abnormality	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6			63
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000598	HP:0000364	Hearing abnormality	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000598	HP:0000364	Hearing abnormality	2	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0000598	HP:0000364	Hearing abnormality	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000598	HP:0000364	Hearing abnormality	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0000598	HP:0000364	Hearing abnormality	2	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0000598	HP:0000364	Hearing abnormality	2	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0000598	HP:0000364	Hearing abnormality	2	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct			274
HP:0000598	HP:0000364	Hearing abnormality	2	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct			274
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct			274
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		274
HP:0000598	HP:0000364	Hearing abnormality	2	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0000598	HP:0000364	Hearing abnormality	2	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0000364	Hearing abnormality	2	SLC26A5 CL E G H	375611	9359	OMIM:613865	DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61			49
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC26A5 CL E G H	375611	9359	OMIM:613865	DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61			49
HP:0000598	HP:0000364	Hearing abnormality	2	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0000598	HP:0000364	Hearing abnormality	2	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0000598	HP:0000364	Hearing abnormality	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0000598	HP:0000364	Hearing abnormality	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0000598	HP:0000364	Hearing abnormality	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0000598	HP:0000364	Hearing abnormality	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0000364	Hearing abnormality	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000598	HP:0000364	Hearing abnormality	2	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0000598	HP:0000364	Hearing abnormality	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000598	HP:0000364	Hearing abnormality	2	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0000598	HP:0000364	Hearing abnormality	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0000598	HP:0000364	Hearing abnormality	2	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72			1
HP:0000598	HP:0000364	Hearing abnormality	2	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0000598	HP:0000364	Hearing abnormality	2	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome			66
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome			66
HP:0000598	HP:0000364	Hearing abnormality	2	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0000598	HP:0000364	Hearing abnormality	2	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0000598	HP:0000364	Hearing abnormality	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0000598	HP:0000364	Hearing abnormality	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000598	HP:0000364	Hearing abnormality	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000598	HP:0000364	Hearing abnormality	2	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0000598	HP:0000364	Hearing abnormality	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0000364	Hearing abnormality	2	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0000598	HP:0000364	Hearing abnormality	2	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0000598	HP:0000364	Hearing abnormality	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0000598	HP:0000364	Hearing abnormality	2	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P			274
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000598	HP:0000364	Hearing abnormality	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0000598	HP:0000364	Hearing abnormality	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0000598	HP:0000364	Hearing abnormality	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000598	HP:0000364	Hearing abnormality	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0000598	HP:0000364	Hearing abnormality	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0000598	HP:0000364	Hearing abnormality	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0000598	HP:0000364	Hearing abnormality	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0000598	HP:0000364	Hearing abnormality	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000598	HP:0030766	Ear pain	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0000598	HP:0000364	Hearing abnormality	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0000598	HP:0000364	Hearing abnormality	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0000598	HP:0000364	Hearing abnormality	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000598	HP:0030766	Ear pain	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0000364	Hearing abnormality	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000598	HP:0000364	Hearing abnormality	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0000364	Hearing abnormality	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000598	HP:0000364	Hearing abnormality	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0000364	Hearing abnormality	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0000364	Hearing abnormality	2	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0000598	HP:0000364	Hearing abnormality	2	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2			174
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000598	HP:0000364	Hearing abnormality	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0000598	HP:0000364	Hearing abnormality	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000598	HP:0030766	Ear pain	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000598	HP:0000364	Hearing abnormality	2	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4			12
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0000598	HP:0000364	Hearing abnormality	2	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0000598	HP:0000364	Hearing abnormality	2	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0000598	HP:0000364	Hearing abnormality	2	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D			19
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D			19
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000364	Hearing abnormality	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0000598	HP:0000364	Hearing abnormality	2	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0000598	HP:0000364	Hearing abnormality	2	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0000598	HP:0000364	Hearing abnormality	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0000598	HP:0000364	Hearing abnormality	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0000598	HP:0000364	Hearing abnormality	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000598	HP:0000364	Hearing abnormality	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0000364	Hearing abnormality	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0000364	Hearing abnormality	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0000598	HP:0000364	Hearing abnormality	2	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0000598	HP:0000364	Hearing abnormality	2	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0000598	HP:0000364	Hearing abnormality	2	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata			26
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata			26
HP:0000598	HP:0000364	Hearing abnormality	2	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0000598	HP:0000364	Hearing abnormality	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000598	HP:0000364	Hearing abnormality	2	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000598	HP:0000364	Hearing abnormality	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000598	HP:0000364	Hearing abnormality	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0000598	HP:0000364	Hearing abnormality	2	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000598	HP:0000364	Hearing abnormality	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000598	HP:0000364	Hearing abnormality	2	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0000598	HP:0000364	Hearing abnormality	2	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome			61
HP:0000598	HP:0000364	Hearing abnormality	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0000598	HP:0000364	Hearing abnormality	2	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0000598	HP:0000364	Hearing abnormality	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0000598	HP:0000364	Hearing abnormality	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0000598	HP:0000364	Hearing abnormality	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0000598	HP:0000364	Hearing abnormality	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0000364	Hearing abnormality	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000598	HP:0000364	Hearing abnormality	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0000598	HP:0000364	Hearing abnormality	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000598	HP:0000364	Hearing abnormality	2	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.		34
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0000598	HP:0000364	Hearing abnormality	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0000598	HP:0000364	Hearing abnormality	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0000598	HP:0000364	Hearing abnormality	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0000598	HP:0000364	Hearing abnormality	2	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0000598	HP:0000364	Hearing abnormality	2	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0000598	HP:0000364	Hearing abnormality	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0000364	Hearing abnormality	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0000364	Hearing abnormality	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0000364	Hearing abnormality	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0000598	HP:0000364	Hearing abnormality	2	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies			6
HP:0000598	HP:0000364	Hearing abnormality	2	SPNS2 CL E G H	124976	26992	OMIM:618457	Deafness, autosomal recessive 115
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SPNS2 CL E G H	124976	26992	OMIM:618457	Deafness, autosomal recessive 115
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000598	HP:0000364	Hearing abnormality	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0000598	HP:0000364	Hearing abnormality	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0000598	HP:0012780	Neoplasm of the ear	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000598	HP:0000364	Hearing abnormality	2	SPRY4 CL E G H	81848	15533	OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia			5
HP:0000598	HP:0000364	Hearing abnormality	2	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0000364	Hearing abnormality	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0000364	Hearing abnormality	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000598	HP:0000364	Hearing abnormality	2	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			54
HP:0000598	HP:0000364	Hearing abnormality	2	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0000598	HP:0000364	Hearing abnormality	2	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			149
HP:0000598	HP:0000364	Hearing abnormality	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0000598	HP:0000364	Hearing abnormality	2	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0000598	HP:0000364	Hearing abnormality	2	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0000364	Hearing abnormality	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0000364	Hearing abnormality	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0000598	HP:0000364	Hearing abnormality	2	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare
HP:0000598	HP:0000364	Hearing abnormality	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	SRP72 CL E G H	6731	11303	OMIM:614675	Bone marrow failure syndrome 1			68
HP:0000598	HP:0000364	Hearing abnormality	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000598	HP:0000364	Hearing abnormality	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0000598	HP:0000364	Hearing abnormality	2	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0000598	HP:0000356	Abnormality of the outer ear	2	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0000598	HP:0000364	Hearing abnormality	2	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0000598	HP:0000370	Abnormality of the middle ear	2	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0000598	HP:0000364	Hearing abnormality	2	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0000598	HP:0000370	Abnormality of the middle ear	2	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0000598	HP:0000364	Hearing abnormality	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0000364	Hearing abnormality	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000598	HP:0000364	Hearing abnormality	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000598	HP:0000364	Hearing abnormality	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0000598	HP:0000364	Hearing abnormality	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0000598	HP:0000370	Abnormality of the middle ear	2	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0000598	HP:0000364	Hearing abnormality	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000598	HP:0000364	Hearing abnormality	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0000598	HP:0000364	Hearing abnormality	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0000598	HP:0000364	Hearing abnormality	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0000598	HP:0000364	Hearing abnormality	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0000598	HP:0000364	Hearing abnormality	2	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0000598	HP:0000364	Hearing abnormality	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0000598	HP:0000356	Abnormality of the outer ear	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0000598	HP:0000364	Hearing abnormality	2	STRC CL E G H	161497	16035	OMIM:603720	DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16			78
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STRC CL E G H	161497	16035	OMIM:603720	DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16			78
HP:0000598	HP:0000364	Hearing abnormality	2	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility			78
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility			78
HP:0000598	HP:0000364	Hearing abnormality	2	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome			78
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome			78
HP:0000598	HP:0000356	Abnormality of the outer ear	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000598	HP:0000364	Hearing abnormality	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0000598	HP:0000364	Hearing abnormality	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0000598	HP:0000364	Hearing abnormality	2	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000356	Abnormality of the outer ear	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0000598	HP:0000364	Hearing abnormality	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0000598	HP:0000364	Hearing abnormality	2	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0000598	HP:0000364	Hearing abnormality	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0000598	HP:0000364	Hearing abnormality	2	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0000598	HP:0000364	Hearing abnormality	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0000598	HP:0000364	Hearing abnormality	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0000598	HP:0000364	Hearing abnormality	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000598	HP:0030766	Ear pain	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0000598	HP:0000364	Hearing abnormality	2	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0000598	HP:0000364	Hearing abnormality	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000598	HP:0000364	Hearing abnormality	2	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000598	HP:0000364	Hearing abnormality	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0000598	HP:0000364	Hearing abnormality	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0000598	HP:0000364	Hearing abnormality	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0000598	HP:0012780	Neoplasm of the ear	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000598	HP:0000364	Hearing abnormality	2	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76			21
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76			21
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0000598	HP:0000364	Hearing abnormality	2	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000598	HP:0000364	Hearing abnormality	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0000598	HP:0000364	Hearing abnormality	2	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0000364	Hearing abnormality	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0000598	HP:0000364	Hearing abnormality	2	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0000598	HP:0000364	Hearing abnormality	2	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000364	Hearing abnormality	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000598	HP:0000364	Hearing abnormality	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000598	HP:0000364	Hearing abnormality	2	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0000598	HP:0000364	Hearing abnormality	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0000598	HP:0000364	Hearing abnormality	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0000364	Hearing abnormality	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I			5
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I			17
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000598	HP:0000364	Hearing abnormality	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000364	Hearing abnormality	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0000364	Hearing abnormality	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0000598	HP:0000364	Hearing abnormality	2	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65			271
HP:0000598	HP:0000364	Hearing abnormality	2	TBC1D24 CL E G H	57465	29203	OMIM:614617	Deafness, autosomal recessive 86			271
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000598	HP:0000364	Hearing abnormality	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0000598	HP:0000364	Hearing abnormality	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0000598	HP:0000364	Hearing abnormality	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000598	HP:0000364	Hearing abnormality	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000598	HP:0000364	Hearing abnormality	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000598	HP:0000364	Hearing abnormality	2	TBL1Y CL E G H	90665	18502	OMIM:400047	DEAFNESS, Y-LINKED 2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TBL1Y CL E G H	90665	18502	OMIM:400047	DEAFNESS, Y-LINKED 2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0000364	Hearing abnormality	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0000598	HP:0000364	Hearing abnormality	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0000598	HP:0000364	Hearing abnormality	2	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000598	HP:0000364	Hearing abnormality	2	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked			28
HP:0000598	HP:0000364	Hearing abnormality	2	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked			28
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0000598	HP:0000364	Hearing abnormality	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0000598	HP:0000364	Hearing abnormality	2	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy			78
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy			78
HP:0000598	HP:0000364	Hearing abnormality	2	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly			28
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0000598	HP:0000364	Hearing abnormality	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0000598	HP:0000364	Hearing abnormality	2	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0000598	HP:0000364	Hearing abnormality	2	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0000364	Hearing abnormality	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0000359	Abnormality of the inner ear	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0000364	Hearing abnormality	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV			31
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0000598	HP:0000364	Hearing abnormality	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000598	HP:0000364	Hearing abnormality	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000598	HP:0000364	Hearing abnormality	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000598	HP:0000364	Hearing abnormality	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0000598	HP:0000364	Hearing abnormality	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0000598	HP:0000364	Hearing abnormality	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TECRL CL E G H	253017	27365	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			4
HP:0000598	HP:0000364	Hearing abnormality	2	TECTA CL E G H	7007	11720	OMIM:601543	Deafness, autosomal dominant nonsyndromic sensorineural 12			222
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TECTA CL E G H	7007	11720	OMIM:601543	Deafness, autosomal dominant nonsyndromic sensorineural 12			222
HP:0000598	HP:0000364	Hearing abnormality	2	TECTA CL E G H	7007	11720	OMIM:603629	DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21			222
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TECTA CL E G H	7007	11720	OMIM:603629	DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21			222
HP:0000598	HP:0000364	Hearing abnormality	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000598	HP:0000364	Hearing abnormality	2	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000598	HP:0000364	Hearing abnormality	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0000598	HP:0000364	Hearing abnormality	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0000598	HP:0000364	Hearing abnormality	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000598	HP:0030766	Ear pain	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0000598	HP:0000364	Hearing abnormality	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000598	HP:0000364	Hearing abnormality	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0000364	Hearing abnormality	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0000598	HP:0000364	Hearing abnormality	2	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000598	HP:0000364	Hearing abnormality	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0000598	HP:0000364	Hearing abnormality	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0000598	HP:0000364	Hearing abnormality	2	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000598	HP:0000364	Hearing abnormality	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000598	HP:0000364	Hearing abnormality	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000598	HP:0000364	Hearing abnormality	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000598	HP:0000364	Hearing abnormality	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000598	HP:0000364	Hearing abnormality	2	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			98
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0000598	HP:0000364	Hearing abnormality	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0000598	HP:0000364	Hearing abnormality	2	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0000598	HP:0000356	Abnormality of the outer ear	2	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000598	HP:0000364	Hearing abnormality	2	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000598	HP:0000359	Abnormality of the inner ear	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0000364	Hearing abnormality	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0000364	Hearing abnormality	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0000364	Hearing abnormality	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000598	HP:0000364	Hearing abnormality	2	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0000598	HP:0000364	Hearing abnormality	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0000598	HP:0000364	Hearing abnormality	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0000598	HP:0000364	Hearing abnormality	2	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0000598	HP:0000364	Hearing abnormality	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0000598	HP:0000364	Hearing abnormality	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000598	HP:0000364	Hearing abnormality	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0000598	HP:0000364	Hearing abnormality	2	TMC1 CL E G H	117531	16513	OMIM:606705	Deafness, autosomal dominant 36			109
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TMC1 CL E G H	117531	16513	OMIM:606705	Deafness, autosomal dominant 36			109
HP:0000598	HP:0000364	Hearing abnormality	2	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7			109
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7			109
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0000598	HP:0000364	Hearing abnormality	2	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000598	HP:0000364	Hearing abnormality	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000598	HP:0000364	Hearing abnormality	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000598	HP:0000364	Hearing abnormality	2	TMEM132E CL E G H	124842	26991	OMIM:618481	DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TMEM132E CL E G H	124842	26991	OMIM:618481	DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000598	HP:0000364	Hearing abnormality	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000598	HP:0000364	Hearing abnormality	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0000598	HP:0000364	Hearing abnormality	2	TMEM43 CL E G H	79188	28472	OMIM:619832	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3			171
HP:0000598	HP:0000364	Hearing abnormality	2	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0000598	HP:0000364	Hearing abnormality	2	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000598	HP:0000364	Hearing abnormality	2	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome			166
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000598	HP:0000364	Hearing abnormality	2	TMIE CL E G H	259236	30800	OMIM:600971	Deafness, autosomal recessive 6			39
HP:0000598	HP:0000364	Hearing abnormality	2	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy			136
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy			136
HP:0000598	HP:0000364	Hearing abnormality	2	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8			111
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8			111
HP:0000598	HP:0000364	Hearing abnormality	2	TNC CL E G H	3371	5318	OMIM:615629	Deafness, autosomal dominant 56			9
HP:0000598	HP:0000364	Hearing abnormality	2	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0000598	HP:0000364	Hearing abnormality	2	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis			72
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis			72
HP:0000598	HP:0000364	Hearing abnormality	2	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0000598	HP:0000364	Hearing abnormality	2	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0000598	HP:0000364	Hearing abnormality	2	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0000598	HP:0000364	Hearing abnormality	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2			12
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0000598	HP:0000364	Hearing abnormality	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0000598	HP:0000364	Hearing abnormality	2	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy			73
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy			73
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome			37
HP:0000598	HP:0000364	Hearing abnormality	2	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy			180
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy			180
HP:0000598	HP:0000364	Hearing abnormality	2	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome			43
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000598	HP:0000364	Hearing abnormality	2	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000598	HP:0000364	Hearing abnormality	2	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000598	HP:0000364	Hearing abnormality	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000598	HP:0000364	Hearing abnormality	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0000598	HP:0000364	Hearing abnormality	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0000598	HP:0000364	Hearing abnormality	2	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000598	HP:0000364	Hearing abnormality	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0000598	HP:0000359	Abnormality of the inner ear	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional		140
HP:0000598	HP:0000364	Hearing abnormality	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional		140
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0000598	HP:0000364	Hearing abnormality	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0000598	HP:0000364	Hearing abnormality	2	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation			140
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation			140
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0000598	HP:0000364	Hearing abnormality	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0000598	HP:0000364	Hearing abnormality	2	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy			230
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy			230
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0000598	HP:0000364	Hearing abnormality	2	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome			54
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0000598	HP:0000364	Hearing abnormality	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000598	HP:0000364	Hearing abnormality	2	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000598	HP:0000364	Hearing abnormality	2	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79			32
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79			32
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0000598	HP:0000364	Hearing abnormality	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0000598	HP:0000364	Hearing abnormality	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000598	HP:0030766	Ear pain	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0000598	HP:0000364	Hearing abnormality	2	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0000598	HP:0000364	Hearing abnormality	2	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity			2
HP:0000598	HP:0000364	Hearing abnormality	2	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRDN CL E G H	10345	12261	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			145
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0000598	HP:0000364	Hearing abnormality	2	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000598	HP:0000364	Hearing abnormality	2	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28			154
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28			154
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0000598	HP:0000364	Hearing abnormality	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	TRMU CL E G H	55687	25481	OMIM:580000	Deafness, aminoglycoside-induced			101
HP:0000598	HP:0000364	Hearing abnormality	2	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0000364	Hearing abnormality	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0000598	HP:0000364	Hearing abnormality	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0000598	HP:0000364	Hearing abnormality	2	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000364	Hearing abnormality	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0000598	HP:0000364	Hearing abnormality	2	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000364	Hearing abnormality	2	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0000364	Hearing abnormality	2	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0000598	HP:0000364	Hearing abnormality	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0000598	HP:0000364	Hearing abnormality	2	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000364	Hearing abnormality	2	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0000364	Hearing abnormality	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0000598	HP:0000364	Hearing abnormality	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000364	Hearing abnormality	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000598	HP:0000364	Hearing abnormality	2	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0000598	HP:0000364	Hearing abnormality	2	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000364	Hearing abnormality	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0000598	HP:0000364	Hearing abnormality	2	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	TRNS1 CL E G H	4574	7497	OMIM:580000	Deafness, aminoglycoside-induced
HP:0000598	HP:0000364	Hearing abnormality	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0000598	HP:0000364	Hearing abnormality	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000598	HP:0000364	Hearing abnormality	2	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0000598	HP:0000364	Hearing abnormality	2	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000359	Abnormality of the inner ear	2	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000364	Hearing abnormality	2	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000364	Hearing abnormality	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0000598	HP:0000364	Hearing abnormality	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000364	Hearing abnormality	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000598	HP:0000364	Hearing abnormality	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect			124
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000598	HP:0000364	Hearing abnormality	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0000598	HP:0000364	Hearing abnormality	2	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			151
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			151
HP:0000598	HP:0000364	Hearing abnormality	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0000598	HP:0000364	Hearing abnormality	2	TRRAP CL E G H	8295	12347	OMIM:618778	DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TRRAP CL E G H	8295	12347	OMIM:618778	DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0000598	HP:0000364	Hearing abnormality	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0000598	HP:0000364	Hearing abnormality	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital			111
HP:0000598	HP:0000364	Hearing abnormality	2	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital			111
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital			111
HP:0000598	HP:0000364	Hearing abnormality	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000598	HP:0000364	Hearing abnormality	2	TSPEAR CL E G H	54084	1268	OMIM:614861	Deafness, autosomal recessive 98			39
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TSPEAR CL E G H	54084	1268	OMIM:614861	Deafness, autosomal recessive 98			39
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0000598	HP:0000364	Hearing abnormality	2	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0000598	HP:0000364	Hearing abnormality	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000364	Hearing abnormality	2	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000598	HP:0000364	Hearing abnormality	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0000598	HP:0000364	Hearing abnormality	2	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0000598	HP:0000364	Hearing abnormality	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0000598	HP:0000364	Hearing abnormality	2	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy			7128
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy			7128
HP:0000598	HP:0000364	Hearing abnormality	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0000598	HP:0000364	Hearing abnormality	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000598	HP:0000364	Hearing abnormality	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000598	HP:0000364	Hearing abnormality	2	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0000598	HP:0000364	Hearing abnormality	2	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0000598	HP:0000364	Hearing abnormality	2	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0000598	HP:0000364	Hearing abnormality	2	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0000598	HP:0000364	Hearing abnormality	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000598	HP:0000364	Hearing abnormality	2	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000359	Abnormality of the inner ear	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000364	Hearing abnormality	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000364	Hearing abnormality	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000598	HP:0000364	Hearing abnormality	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0000598	HP:0000364	Hearing abnormality	2	TWNK CL E G H	56652	1160	ORPHA:1186	Infantile-onset spinocerebellar ataxia			113
HP:0000598	HP:0000364	Hearing abnormality	2	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)			113
HP:0000598	HP:0000364	Hearing abnormality	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0000598	HP:0000364	Hearing abnormality	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000598	HP:0000364	Hearing abnormality	2	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0000598	HP:0000364	Hearing abnormality	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0000598	HP:0000364	Hearing abnormality	2	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy			85
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy			85
HP:0000598	HP:0000364	Hearing abnormality	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000598	HP:0000364	Hearing abnormality	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0000598	HP:0000364	Hearing abnormality	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0000598	HP:0000364	Hearing abnormality	2	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0000598	HP:0000364	Hearing abnormality	2	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000598	HP:0000364	Hearing abnormality	2	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0000598	HP:0000370	Abnormality of the middle ear	2	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0000598	HP:0000364	Hearing abnormality	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0000598	HP:0000364	Hearing abnormality	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0000598	HP:0000364	Hearing abnormality	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000598	HP:0000364	Hearing abnormality	2	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0000598	HP:0000370	Abnormality of the middle ear	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13			30
HP:0000598	HP:0000364	Hearing abnormality	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0000598	HP:0000364	Hearing abnormality	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000598	HP:0000356	Abnormality of the outer ear	2	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0000598	HP:0000364	Hearing abnormality	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0000598	HP:0000364	Hearing abnormality	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0000598	HP:0000370	Abnormality of the middle ear	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0000598	HP:0000364	Hearing abnormality	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	USH1C CL E G H	10083	12597	OMIM:602092	DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A			173
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	USH1C CL E G H	10083	12597	OMIM:602092	DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A			173
HP:0000598	HP:0000359	Abnormality of the inner ear	2	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000598	HP:0000364	Hearing abnormality	2	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000598	HP:0000364	Hearing abnormality	2	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000598	HP:0000364	Hearing abnormality	2	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC			173
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC			173
HP:0000598	HP:0000359	Abnormality of the inner ear	2	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000598	HP:0000364	Hearing abnormality	2	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000598	HP:0000364	Hearing abnormality	2	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG			78
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG			78
HP:0000598	HP:0000364	Hearing abnormality	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000598	HP:0000370	Abnormality of the middle ear	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000598	HP:0000359	Abnormality of the inner ear	2	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000598	HP:0000364	Hearing abnormality	2	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000598	HP:0000364	Hearing abnormality	2	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA			777
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA			777
HP:0000598	HP:0000364	Hearing abnormality	2	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0000598	HP:0000364	Hearing abnormality	2	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0000598	HP:0000364	Hearing abnormality	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000598	HP:0000364	Hearing abnormality	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000598	HP:0000364	Hearing abnormality	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0000598	HP:0000364	Hearing abnormality	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000364	Hearing abnormality	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000598	HP:0000364	Hearing abnormality	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000598	HP:0000370	Abnormality of the middle ear	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000598	HP:0000364	Hearing abnormality	2	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0000598	HP:0000364	Hearing abnormality	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0000598	HP:0000364	Hearing abnormality	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0000598	HP:0000364	Hearing abnormality	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000598	HP:0000370	Abnormality of the middle ear	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000598	HP:0000364	Hearing abnormality	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0000598	HP:0000370	Abnormality of the middle ear	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0000598	HP:0000359	Abnormality of the inner ear	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0000598	HP:0012780	Neoplasm of the ear	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0000598	HP:0000364	Hearing abnormality	2	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0000598	HP:0000356	Abnormality of the outer ear	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0000598	HP:0000364	Hearing abnormality	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0000598	HP:0000364	Hearing abnormality	2	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000598	HP:0000364	Hearing abnormality	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000598	HP:0000364	Hearing abnormality	2	VPS33B CL E G H	26276	12712	OMIM:620009				63
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VPS33B CL E G H	26276	12712	OMIM:620009				63
HP:0000598	HP:0000356	Abnormality of the outer ear	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0000598	HP:0000364	Hearing abnormality	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0000598	HP:0000356	Abnormality of the outer ear	2	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0000598	HP:0000364	Hearing abnormality	2	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0000370	Abnormality of the middle ear	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0000364	Hearing abnormality	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0000598	HP:0000356	Abnormality of the outer ear	2	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome	.		47
HP:0000598	HP:0000364	Hearing abnormality	2	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000598	HP:0000364	Hearing abnormality	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000598	HP:0000364	Hearing abnormality	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000598	HP:0000364	Hearing abnormality	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000598	HP:0000370	Abnormality of the middle ear	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0000598	HP:0000370	Abnormality of the middle ear	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000598	HP:0000364	Hearing abnormality	2	WBP2 CL E G H	23558	12738	OMIM:617639	DEAFNESS, AUTOSOMAL RECESSIVE 107; DFNB107			3
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0000598	HP:0000364	Hearing abnormality	2	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0000598	HP:0000364	Hearing abnormality	2	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0000598	HP:0000364	Hearing abnormality	2	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0000598	HP:0000370	Abnormality of the middle ear	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000598	HP:0000370	Abnormality of the middle ear	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000598	HP:0000364	Hearing abnormality	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000598	HP:0000364	Hearing abnormality	2	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6			389
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6			389
HP:0000598	HP:0000364	Hearing abnormality	2	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0000598	HP:0000364	Hearing abnormality	2	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0000598	HP:0000364	Hearing abnormality	2	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0000598	HP:0000364	Hearing abnormality	2	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000598	HP:0000364	Hearing abnormality	2	WHRN CL E G H	25861	16361	OMIM:607084	Deafness, autosomal recessive 31			155
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	WHRN CL E G H	25861	16361	OMIM:607084	Deafness, autosomal recessive 31			155
HP:0000598	HP:0000359	Abnormality of the inner ear	2	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000598	HP:0000364	Hearing abnormality	2	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000598	HP:0000364	Hearing abnormality	2	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID			155
HP:0000598	HP:0000370	Abnormality of the middle ear	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000598	HP:0000364	Hearing abnormality	2	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation			4
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000598	HP:0000364	Hearing abnormality	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0000598	HP:0000356	Abnormality of the outer ear	2	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0000598	HP:0000364	Hearing abnormality	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0000598	HP:0000364	Hearing abnormality	2	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		177
HP:0000598	HP:0000364	Hearing abnormality	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0000598	HP:0000364	Hearing abnormality	2	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0000598	HP:0000364	Hearing abnormality	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0000598	HP:0000364	Hearing abnormality	2	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0000598	HP:0000356	Abnormality of the outer ear	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0000598	HP:0000364	Hearing abnormality	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0000598	HP:0000364	Hearing abnormality	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000598	HP:0000356	Abnormality of the outer ear	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000598	HP:0000364	Hearing abnormality	2	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000598	HP:0000364	Hearing abnormality	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0000598	HP:0000364	Hearing abnormality	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0000598	HP:0000356	Abnormality of the outer ear	2	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0000598	HP:0000356	Abnormality of the outer ear	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0000598	HP:0000364	Hearing abnormality	2	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional		7
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0000598	HP:0000364	Hearing abnormality	2	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000598	HP:0000364	Hearing abnormality	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2			9
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000598	HP:0000364	Hearing abnormality	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000598	HP:0000364	Hearing abnormality	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000598	HP:0000364	Hearing abnormality	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0000598	HP:0000364	Hearing abnormality	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0000598	HP:0000364	Hearing abnormality	2	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly			5
HP:0000598	HP:0000364	Hearing abnormality	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0000598	HP:0000364	Hearing abnormality	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0000598	HP:0000364	Hearing abnormality	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0000598	HP:0000364	Hearing abnormality	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000598	HP:0000364	Hearing abnormality	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0000364	Hearing abnormality	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0000598	HP:0000364	Hearing abnormality	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive			1
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000598	HP:0000364	Hearing abnormality	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0000598	HP:0000364	Hearing abnormality	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0000364	Hearing abnormality	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0000364	Hearing abnormality	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000598	HP:0000364	Hearing abnormality	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000598	HP:0000364	Hearing abnormality	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0000598	HP:0000364	Hearing abnormality	2	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0000364	Hearing abnormality	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0000598	HP:0000364	Hearing abnormality	2	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	CL E G H
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	CL E G H
HP:0000598	HP:0040099	Abnormality of the round window	3	CL E G H
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	CL E G H
HP:0000598	HP:0000388	Otitis media	3	A2ML1 CL E G H	144568	23336	OMIM:166760	Otitis media, susceptibility to			120
HP:0000598	HP:0000365	Hearing impairment	3	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		57
HP:0000598	HP:0000365	Hearing impairment	3	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	.
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0000598	HP:0000365	Hearing impairment	3	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		130
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0000598	HP:0000388	Otitis media	3	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0000598	HP:0000365	Hearing impairment	3	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000598	HP:0000365	Hearing impairment	3	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040282 - Frequent		20
HP:0000598	HP:0000365	Hearing impairment	3	ABCC1 CL E G H	4363	51	OMIM:618915	DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77			22
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ABCC1 CL E G H	4363	51	OMIM:618915	DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77			22
HP:0000598	HP:0000365	Hearing impairment	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		415
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0000598	HP:0000365	Hearing impairment	3	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		245
HP:0000598	HP:0000365	Hearing impairment	3	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		245
HP:0000598	HP:0000365	Hearing impairment	3	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy			254
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		254
HP:0000598	HP:0000365	Hearing impairment	3	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0000598	HP:0000365	Hearing impairment	3	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		135
HP:0000598	HP:0000365	Hearing impairment	3	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0000598	HP:0000365	Hearing impairment	3	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.		50
HP:0000598	HP:0000365	Hearing impairment	3	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000598	HP:0000365	Hearing impairment	3	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000598	HP:0000365	Hearing impairment	3	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000598	HP:0000365	Hearing impairment	3	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000598	HP:0000365	Hearing impairment	3	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040281 - Very frequent		120
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0000598	HP:0000388	Otitis media	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0000598	HP:0000365	Hearing impairment	3	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040282 - Frequent		19
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0000598	HP:0000365	Hearing impairment	3	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0000598	HP:0000365	Hearing impairment	3	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0000598	HP:0000365	Hearing impairment	3	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0000598	HP:0000365	Hearing impairment	3	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy			208
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		208
HP:0000598	HP:0000365	Hearing impairment	3	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	.		123
HP:0000598	HP:0000365	Hearing impairment	3	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20			123
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20			123
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0000598	HP:0000365	Hearing impairment	3	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy			307
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		307
HP:0000598	HP:0000365	Hearing impairment	3	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040282 - Frequent		49
HP:0000598	HP:0000365	Hearing impairment	3	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0000598	HP:0000365	Hearing impairment	3	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency	.		13
HP:0000598	HP:0000365	Hearing impairment	3	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040284 - Very rare		13
HP:0000598	HP:0000388	Otitis media	3	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency			75
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0001751	Vestibular dysfunction	3	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome			22
HP:0000598	HP:0000388	Otitis media	3	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus			8
HP:0000598	HP:0000365	Hearing impairment	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0000598	HP:0000365	Hearing impairment	3	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0000598	HP:0000365	Hearing impairment	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0000598	HP:0000388	Otitis media	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0000598	HP:0000388	Otitis media	3	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0000598	HP:0000365	Hearing impairment	3	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44			2
HP:0000598	HP:0000365	Hearing impairment	3	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0000598	HP:0000365	Hearing impairment	3	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000598	HP:0000365	Hearing impairment	3	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC			530
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC			530
HP:0000598	HP:0000365	Hearing impairment	3	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	HP:0040283 - Occasional		26
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000598	HP:0000365	Hearing impairment	3	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	HP:0040284 - Very rare
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000598	HP:0000365	Hearing impairment	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0000598	HP:0000365	Hearing impairment	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0000598	HP:0000388	Otitis media	3	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0000598	HP:0000365	Hearing impairment	3	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000365	Hearing impairment	3	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0000598	HP:0000365	Hearing impairment	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0000598	HP:0000365	Hearing impairment	3	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000598	HP:0000365	Hearing impairment	3	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000598	HP:0000365	Hearing impairment	3	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000365	Hearing impairment	3	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0000598	HP:0000365	Hearing impairment	3	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome	.		60
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome	HP:0040283 - Occasional		60
HP:0000598	HP:0000360	Tinnitus	3	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5	.		60
HP:0000598	HP:0000365	Hearing impairment	3	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5	.		60
HP:0000598	HP:0001963	Abnormal speech discrimination	3	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5	.		60
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5			60
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0000598	HP:0000365	Hearing impairment	3	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4	HP:0040282 - Frequent		60
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0000598	HP:0001751	Vestibular dysfunction	3	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000598	HP:0000365	Hearing impairment	3	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		114
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000598	HP:0000365	Hearing impairment	3	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent		19
HP:0000598	HP:0000388	Otitis media	3	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0000598	HP:0000365	Hearing impairment	3	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		54
HP:0000598	HP:0000365	Hearing impairment	3	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0000598	HP:0000360	Tinnitus	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000598	HP:0000365	Hearing impairment	3	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0000598	HP:0000365	Hearing impairment	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000598	HP:0000365	Hearing impairment	3	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040282 - Frequent		41
HP:0000598	HP:0000365	Hearing impairment	3	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	HP:0040283 - Occasional		41
HP:0000598	HP:0000365	Hearing impairment	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0000598	HP:0000365	Hearing impairment	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0000598	HP:0000365	Hearing impairment	3	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000598	HP:0000365	Hearing impairment	3	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040282 - Frequent		37
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040282 - Frequent		37
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0000598	HP:0000365	Hearing impairment	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0000388	Otitis media	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0001751	Vestibular dysfunction	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0000598	HP:0000365	Hearing impairment	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000598	HP:0000388	Otitis media	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000598	HP:0000365	Hearing impairment	3	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		75
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0000598	HP:0000388	Otitis media	3	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0000598	HP:0000365	Hearing impairment	3	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		63
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0000598	HP:0000388	Otitis media	3	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0000598	HP:0000365	Hearing impairment	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0000598	HP:0000365	Hearing impairment	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0000598	HP:0000365	Hearing impairment	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0000598	HP:0000365	Hearing impairment	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0000365	Hearing impairment	3	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0000598	HP:0000365	Hearing impairment	3	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000365	Hearing impairment	3	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.		21
HP:0000598	HP:0000388	Otitis media	3	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0000598	HP:0000365	Hearing impairment	3	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0000598	HP:0000365	Hearing impairment	3	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional		164
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0000598	HP:0000365	Hearing impairment	3	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0000598	HP:0000365	Hearing impairment	3	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy			95
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		95
HP:0000598	HP:0000365	Hearing impairment	3	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000598	HP:0000388	Otitis media	3	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000598	HP:0000365	Hearing impairment	3	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000598	HP:0000365	Hearing impairment	3	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0000598	HP:0000365	Hearing impairment	3	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional		8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0000598	HP:0000365	Hearing impairment	3	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000598	HP:0000365	Hearing impairment	3	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0000598	HP:0000365	Hearing impairment	3	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040283 - Occasional		13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0000598	HP:0000365	Hearing impairment	3	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000598	HP:0000388	Otitis media	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000598	HP:0000365	Hearing impairment	3	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness	HP:0040281 - Very frequent		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0000598	HP:0000365	Hearing impairment	3	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		3179
HP:0000598	HP:0000377	Abnormal pinna morphology	3	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0000598	HP:0000365	Hearing impairment	3	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional		3179
HP:0000598	HP:0000365	Hearing impairment	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000388	Otitis media	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000598	HP:0000365	Hearing impairment	3	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0000598	HP:0000388	Otitis media	3	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0000598	HP:0000365	Hearing impairment	3	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.		3
HP:0000598	HP:0000365	Hearing impairment	3	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000598	HP:0000365	Hearing impairment	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0000598	HP:0000365	Hearing impairment	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0000598	HP:0000365	Hearing impairment	3	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent		219
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040281 - Very frequent		219
HP:0000598	HP:0000365	Hearing impairment	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0000598	HP:0000365	Hearing impairment	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0000598	HP:0000365	Hearing impairment	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0000598	HP:0000365	Hearing impairment	3	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0000598	HP:0000365	Hearing impairment	3	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000598	HP:0000365	Hearing impairment	3	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000365	Hearing impairment	3	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		29
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0000598	HP:0000365	Hearing impairment	3	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0000598	HP:0000365	Hearing impairment	3	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000365	Hearing impairment	3	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0000598	HP:0000365	Hearing impairment	3	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0000598	HP:0000365	Hearing impairment	3	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0000598	HP:0000365	Hearing impairment	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0000598	HP:0000365	Hearing impairment	3	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000598	HP:0001751	Vestibular dysfunction	3	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000365	Hearing impairment	3	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000598	HP:0000365	Hearing impairment	3	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0000598	HP:0000365	Hearing impairment	3	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0000598	HP:0000365	Hearing impairment	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0000388	Otitis media	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000598	HP:0000365	Hearing impairment	3	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0000598	HP:0000365	Hearing impairment	3	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional		78
HP:0000598	HP:0000365	Hearing impairment	3	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		15
HP:0000598	HP:0000365	Hearing impairment	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0000598	HP:0000365	Hearing impairment	3	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000598	HP:0000365	Hearing impairment	3	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	HP:0040283 - Occasional		512
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0000598	HP:0000388	Otitis media	3	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000598	HP:0000365	Hearing impairment	3	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000598	HP:0000365	Hearing impairment	3	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional		71
HP:0000598	HP:0000365	Hearing impairment	3	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional		5
HP:0000598	HP:0000365	Hearing impairment	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000598	HP:0000388	Otitis media	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000598	HP:0000365	Hearing impairment	3	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0000598	HP:0000360	Tinnitus	3	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		239
HP:0000598	HP:0000365	Hearing impairment	3	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0000598	HP:0001751	Vestibular dysfunction	3	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000598	HP:0001751	Vestibular dysfunction	3	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0000598	HP:0000365	Hearing impairment	3	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000598	HP:0000365	Hearing impairment	3	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome			150
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	HP:0040281 - Very frequent		150
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000598	HP:0000360	Tinnitus	3	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82			5
HP:0000598	HP:0000365	Hearing impairment	3	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82			5
HP:0000598	HP:0000365	Hearing impairment	3	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12			5
HP:0000598	HP:0000365	Hearing impairment	3	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0000598	HP:0000365	Hearing impairment	3	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0000598	HP:0000365	Hearing impairment	3	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness			67
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness	.		67
HP:0000598	HP:0000365	Hearing impairment	3	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0000598	HP:0000365	Hearing impairment	3	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant	.		5
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000598	HP:0000365	Hearing impairment	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040284 - Very rare		5
HP:0000598	HP:0000365	Hearing impairment	3	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.		5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0000598	HP:0000365	Hearing impairment	3	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		192
HP:0000598	HP:0000365	Hearing impairment	3	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0000598	HP:0000365	Hearing impairment	3	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional		169
HP:0000598	HP:0000365	Hearing impairment	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000598	HP:0000365	Hearing impairment	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000598	HP:0001751	Vestibular dysfunction	3	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional		14
HP:0000598	HP:0001751	Vestibular dysfunction	3	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional		14
HP:0000598	HP:0001751	Vestibular dysfunction	3	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040283 - Occasional		14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0000598	HP:0000377	Abnormal pinna morphology	3	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0000598	HP:0000365	Hearing impairment	3	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0000598	HP:0000365	Hearing impairment	3	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		38
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000598	HP:0000365	Hearing impairment	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0000365	Hearing impairment	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.		34
HP:0000598	HP:0000365	Hearing impairment	3	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy			204
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		204
HP:0000598	HP:0000365	Hearing impairment	3	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000598	HP:0000388	Otitis media	3	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000598	HP:0000360	Tinnitus	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0000598	HP:0000365	Hearing impairment	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000365	Hearing impairment	3	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		114
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0000598	HP:0000365	Hearing impairment	3	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0000598	HP:0000365	Hearing impairment	3	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000598	HP:0000365	Hearing impairment	3	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		118
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0000598	HP:0000365	Hearing impairment	3	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		71
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0000598	HP:0000365	Hearing impairment	3	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		97
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0000598	HP:0000365	Hearing impairment	3	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000598	HP:0000365	Hearing impairment	3	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		87
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0000598	HP:0000365	Hearing impairment	3	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		25
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0000598	HP:0000365	Hearing impairment	3	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		66
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0000598	HP:0000365	Hearing impairment	3	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		119
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0000598	HP:0000365	Hearing impairment	3	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.		8
HP:0000598	HP:0000365	Hearing impairment	3	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040281 - Very frequent		8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0000598	HP:0000365	Hearing impairment	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0001751	Vestibular dysfunction	3	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0000598	HP:0000365	Hearing impairment	3	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		101
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000598	HP:0000365	Hearing impairment	3	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0000598	HP:0000388	Otitis media	3	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000598	HP:0000365	Hearing impairment	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0000598	HP:0000365	Hearing impairment	3	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0000598	HP:0000365	Hearing impairment	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000365	Hearing impairment	3	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome			72
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome	HP:0040281 - Very frequent		72
HP:0000598	HP:0000365	Hearing impairment	3	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.		72
HP:0000598	HP:0000365	Hearing impairment	3	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent		72
HP:0000598	HP:0000365	Hearing impairment	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	HP:0040283 - Occasional		72
HP:0000598	HP:0000365	Hearing impairment	3	BDP1 CL E G H	55814	13652	OMIM:618257	Deafness, autosomal recessive 112			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BDP1 CL E G H	55814	13652	OMIM:618257	Deafness, autosomal recessive 112			2
HP:0000598	HP:0000365	Hearing impairment	3	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	HP:0040283 - Occasional		1
HP:0000598	HP:0000365	Hearing impairment	3	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040283 - Occasional		1
HP:0000598	HP:0000365	Hearing impairment	3	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0000598	HP:0000365	Hearing impairment	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0000598	HP:0000388	Otitis media	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent		314
HP:0000598	HP:0000388	Otitis media	3	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0000598	HP:0000388	Otitis media	3	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0000598	HP:0000365	Hearing impairment	3	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0000598	HP:0000365	Hearing impairment	3	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000598	HP:0000365	Hearing impairment	3	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0000598	HP:0000388	Otitis media	3	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0000598	HP:0000365	Hearing impairment	3	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040283 - Occasional		38
HP:0000598	HP:0000365	Hearing impairment	3	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0000598	HP:0000365	Hearing impairment	3	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0000598	HP:0000365	Hearing impairment	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0000388	Otitis media	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000598	HP:0000365	Hearing impairment	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000598	HP:0000365	Hearing impairment	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		276
HP:0000598	HP:0001751	Vestibular dysfunction	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000598	HP:0000365	Hearing impairment	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0000365	Hearing impairment	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000598	HP:0000365	Hearing impairment	3	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		276
HP:0000598	HP:0000365	Hearing impairment	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0000598	HP:0000365	Hearing impairment	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0000598	HP:0000365	Hearing impairment	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0000598	HP:0000365	Hearing impairment	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0000598	HP:0000365	Hearing impairment	3	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0000598	HP:0000365	Hearing impairment	3	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0000598	HP:0000365	Hearing impairment	3	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040282 - Frequent		223
HP:0000598	HP:0000365	Hearing impairment	3	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0000598	HP:0000365	Hearing impairment	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.		109
HP:0000598	HP:0000388	Otitis media	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.		109
HP:0000598	HP:0000365	Hearing impairment	3	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	.		109
HP:0000598	HP:0000388	Otitis media	3	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0000598	HP:0000365	Hearing impairment	3	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0000598	HP:0000388	Otitis media	3	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040282 - Frequent		109
HP:0000598	HP:0000365	Hearing impairment	3	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		2
HP:0000598	HP:0000365	Hearing impairment	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0000598	HP:0000365	Hearing impairment	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0000598	HP:0000365	Hearing impairment	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000598	HP:0000365	Hearing impairment	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0000598	HP:0000365	Hearing impairment	3	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	HP:0040284 - Very rare
HP:0000598	HP:0000377	Abnormal pinna morphology	3	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0000598	HP:0001751	Vestibular dysfunction	3	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0000598	HP:0000388	Otitis media	3	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency			1
HP:0000598	HP:0000365	Hearing impairment	3	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0000598	HP:0000365	Hearing impairment	3	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000598	HP:0000365	Hearing impairment	3	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000598	HP:0000365	Hearing impairment	3	CABP2 CL E G H	51475	1385	OMIM:614899	Deafness, autosomal recessive 93	.		2
HP:0000598	HP:0001751	Vestibular dysfunction	3	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy			449
HP:0000598	HP:0000360	Tinnitus	3	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.		449
HP:0000598	HP:0001751	Vestibular dysfunction	3	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.		449
HP:0000598	HP:0000360	Tinnitus	3	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		449
HP:0000598	HP:0000365	Hearing impairment	3	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0000598	HP:0001751	Vestibular dysfunction	3	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000598	HP:0000360	Tinnitus	3	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040282 - Frequent		449
HP:0000598	HP:0001751	Vestibular dysfunction	3	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia			449
HP:0000598	HP:0001751	Vestibular dysfunction	3	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6			449
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0000598	HP:0000360	Tinnitus	3	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040283 - Occasional		51
HP:0000598	HP:0000365	Hearing impairment	3	CACNA1D CL E G H	776	1391	OMIM:614896	Sinoatrial node dysfunction and deafness	.		51
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0000598	HP:0001751	Vestibular dysfunction	3	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000598	HP:0001751	Vestibular dysfunction	3	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0000598	HP:0001751	Vestibular dysfunction	3	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5			146
HP:0000598	HP:0001751	Vestibular dysfunction	3	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5			146
HP:0000598	HP:0001751	Vestibular dysfunction	3	CALM1 CL E G H	801	1442	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			18
HP:0000598	HP:0001751	Vestibular dysfunction	3	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4			18
HP:0000598	HP:0001751	Vestibular dysfunction	3	CALM2 CL E G H	805	1445	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			13
HP:0000598	HP:0001751	Vestibular dysfunction	3	CALM3 CL E G H	808	1449	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0000598	HP:0000365	Hearing impairment	3	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000598	HP:0000388	Otitis media	3	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0000598	HP:0000365	Hearing impairment	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000365	Hearing impairment	3	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent		35
HP:0000598	HP:0000365	Hearing impairment	3	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.		35
HP:0000598	HP:0000365	Hearing impairment	3	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0000598	HP:0000365	Hearing impairment	3	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	HP:0040283 - Occasional		118
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000598	HP:0000365	Hearing impairment	3	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent		118
HP:0000598	HP:0001751	Vestibular dysfunction	3	CASQ2 CL E G H	845	1513	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			129
HP:0000598	HP:0000365	Hearing impairment	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0000365	Hearing impairment	3	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0000598	HP:0000365	Hearing impairment	3	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility			12
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility			12
HP:0000598	HP:0000365	Hearing impairment	3	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome			12
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome	HP:0040281 - Very frequent		12
HP:0000598	HP:0000360	Tinnitus	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0000598	HP:0000365	Hearing impairment	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		317
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0000598	HP:0000365	Hearing impairment	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000598	HP:0000365	Hearing impairment	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0000598	HP:0000365	Hearing impairment	3	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		36
HP:0000598	HP:0000388	Otitis media	3	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0000598	HP:0000365	Hearing impairment	3	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0000598	HP:0000365	Hearing impairment	3	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0000598	HP:0000365	Hearing impairment	3	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0000598	HP:0000388	Otitis media	3	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14	.		126
HP:0000598	HP:0000365	Hearing impairment	3	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		126
HP:0000598	HP:0000388	Otitis media	3	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0000598	HP:0000388	Otitis media	3	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0000598	HP:0000365	Hearing impairment	3	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		182
HP:0000598	HP:0000388	Otitis media	3	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0000598	HP:0000388	Otitis media	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0000598	HP:0000365	Hearing impairment	3	CCDC50 CL E G H	152137	18111	OMIM:607453	DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44			35
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CCDC50 CL E G H	152137	18111	OMIM:607453	DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44			35
HP:0000598	HP:0000388	Otitis media	3	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27			23
HP:0000598	HP:0000365	Hearing impairment	3	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0000598	HP:0000388	Otitis media	3	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0000598	HP:0001751	Vestibular dysfunction	3	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0000598	HP:0000360	Tinnitus	3	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.		1
HP:0000598	HP:0000365	Hearing impairment	3	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.		1
HP:0000598	HP:0001751	Vestibular dysfunction	3	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0000598	HP:0000365	Hearing impairment	3	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0000598	HP:0000388	Otitis media	3	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	HP:0040283 - Occasional		7
HP:0000598	HP:0001751	Vestibular dysfunction	3	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000598	HP:0000365	Hearing impairment	3	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000598	HP:0000365	Hearing impairment	3	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0000598	HP:0000365	Hearing impairment	3	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66			1
HP:0000598	HP:0000388	Otitis media	3	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		38
HP:0000598	HP:0000388	Otitis media	3	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2			38
HP:0000598	HP:0000388	Otitis media	3	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3			38
HP:0000598	HP:0000388	Otitis media	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional		8
HP:0000598	HP:0000388	Otitis media	3	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19			18
HP:0000598	HP:0000388	Otitis media	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional		18
HP:0000598	HP:0000388	Otitis media	3	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18			24
HP:0000598	HP:0000388	Otitis media	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional		24
HP:0000598	HP:0000388	Otitis media	3	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17			19
HP:0000598	HP:0000388	Otitis media	3	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79			1
HP:0000598	HP:0000388	Otitis media	3	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0000598	HP:0000388	Otitis media	3	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0000598	HP:0000388	Otitis media	3	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0000598	HP:0000388	Otitis media	3	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0000598	HP:0000388	Otitis media	3	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000598	HP:0000365	Hearing impairment	3	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm	.		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm			2
HP:0000598	HP:0000365	Hearing impairment	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000598	HP:0000365	Hearing impairment	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000598	HP:0000365	Hearing impairment	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000388	Otitis media	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000365	Hearing impairment	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000598	HP:0000365	Hearing impairment	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0000365	Hearing impairment	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		31
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0000598	HP:0000365	Hearing impairment	3	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000598	HP:0000365	Hearing impairment	3	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0000598	HP:0000365	Hearing impairment	3	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0000598	HP:0000388	Otitis media	3	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0000598	HP:0000365	Hearing impairment	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000598	HP:0000365	Hearing impairment	3	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12			636
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12			636
HP:0000598	HP:0001751	Vestibular dysfunction	3	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000598	HP:0001751	Vestibular dysfunction	3	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000598	HP:0000365	Hearing impairment	3	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000598	HP:0001751	Vestibular dysfunction	3	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000598	HP:0000365	Hearing impairment	3	CDH23 CL E G H	64072	13733	OMIM:601067	Usher syndrome, type ID	.	HP:0003577 - Congenital onset	636
HP:0000598	HP:0001751	Vestibular dysfunction	3	CDH23 CL E G H	64072	13733	OMIM:601067	Usher syndrome, type ID	.		636
HP:0000598	HP:0000365	Hearing impairment	3	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000598	HP:0000365	Hearing impairment	3	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive	HP:0040283 - Occasional		181
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0000598	HP:0000365	Hearing impairment	3	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome			114
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0000598	HP:0000365	Hearing impairment	3	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000598	HP:0000365	Hearing impairment	3	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000598	HP:0000365	Hearing impairment	3	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0000598	HP:0000365	Hearing impairment	3	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000598	HP:0000365	Hearing impairment	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		50
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0000598	HP:0000365	Hearing impairment	3	CEACAM16 CL E G H	388551	31948	OMIM:614614	Deafness, autosomal dominant 4B	.		30
HP:0000598	HP:0000365	Hearing impairment	3	CEACAM16 CL E G H	388551	31948	OMIM:618410	DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113			30
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CEACAM16 CL E G H	388551	31948	OMIM:618410	DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113			30
HP:0000598	HP:0000365	Hearing impairment	3	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000365	Hearing impairment	3	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0000598	HP:0000365	Hearing impairment	3	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000365	Hearing impairment	3	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000598	HP:0000365	Hearing impairment	3	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		342
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000598	HP:0000365	Hearing impairment	3	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		342
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0000598	HP:0000365	Hearing impairment	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0000598	HP:0000365	Hearing impairment	3	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000598	HP:0000365	Hearing impairment	3	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000598	HP:0000365	Hearing impairment	3	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000598	HP:0001751	Vestibular dysfunction	3	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000598	HP:0000365	Hearing impairment	3	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000598	HP:0000365	Hearing impairment	3	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		5
HP:0000598	HP:0000365	Hearing impairment	3	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0000598	HP:0000365	Hearing impairment	3	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000388	Otitis media	3	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0000598	HP:0000365	Hearing impairment	3	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000365	Hearing impairment	3	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0000598	HP:0000388	Otitis media	3	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0000598	HP:0000365	Hearing impairment	3	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000365	Hearing impairment	3	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000365	Hearing impairment	3	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000388	Otitis media	3	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000598	HP:0000388	Otitis media	3	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000598	HP:0000388	Otitis media	3	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency			57
HP:0000598	HP:0000365	Hearing impairment	3	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0000598	HP:0000365	Hearing impairment	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0000598	HP:0000365	Hearing impairment	3	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	HP:0040283 - Occasional		11
HP:0000598	HP:0000365	Hearing impairment	3	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.		14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.		14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0000365	Hearing impairment	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000365	Hearing impairment	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		515
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000365	Hearing impairment	3	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia			515
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia	.		515
HP:0000598	HP:0000365	Hearing impairment	3	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0000598	HP:0000365	Hearing impairment	3	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000598	HP:0000365	Hearing impairment	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent		35
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0000598	HP:0000365	Hearing impairment	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0000598	HP:0000365	Hearing impairment	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0000598	HP:0000365	Hearing impairment	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000598	HP:0000365	Hearing impairment	3	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional		27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000598	HP:0000365	Hearing impairment	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0000598	HP:0000365	Hearing impairment	3	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000365	Hearing impairment	3	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000598	HP:0000365	Hearing impairment	3	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48			15
HP:0000598	HP:0001751	Vestibular dysfunction	3	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48			15
HP:0000598	HP:0000365	Hearing impairment	3	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000598	HP:0001751	Vestibular dysfunction	3	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000598	HP:0001751	Vestibular dysfunction	3	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ	.		15
HP:0000598	HP:0000388	Otitis media	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0000598	HP:0000365	Hearing impairment	3	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0000365	Hearing impairment	3	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0000598	HP:0000365	Hearing impairment	3	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2			6
HP:0000598	HP:0000360	Tinnitus	3	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040283 - Occasional		44
HP:0000598	HP:0000365	Hearing impairment	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0000365	Hearing impairment	3	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040283 - Occasional		102
HP:0000598	HP:0000365	Hearing impairment	3	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0000598	HP:0000388	Otitis media	3	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0000598	HP:0000365	Hearing impairment	3	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0000598	HP:0000365	Hearing impairment	3	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0000598	HP:0000365	Hearing impairment	3	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0000598	HP:0000360	Tinnitus	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0000598	HP:0001751	Vestibular dysfunction	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0000598	HP:0000365	Hearing impairment	3	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0000598	HP:0000365	Hearing impairment	3	CLDN14 CL E G H	23562	2035	OMIM:614035	Deafness, autosomal recessive 29			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLDN14 CL E G H	23562	2035	OMIM:614035	Deafness, autosomal recessive 29	.		57
HP:0000598	HP:0000365	Hearing impairment	3	CLDN9 CL E G H	9080	2051	OMIM:619093	DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLDN9 CL E G H	9080	2051	OMIM:619093	DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0000598	HP:0000365	Hearing impairment	3	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103	.		1
HP:0000598	HP:0001751	Vestibular dysfunction	3	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103	.		1
HP:0000598	HP:0000365	Hearing impairment	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3	.		13
HP:0000598	HP:0000365	Hearing impairment	3	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000598	HP:0000365	Hearing impairment	3	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000598	HP:0001751	Vestibular dysfunction	3	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000598	HP:0000365	Hearing impairment	3	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA			60
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA	HP:0040282 - Frequent		60
HP:0000598	HP:0001751	Vestibular dysfunction	3	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA	HP:0040282 - Frequent		60
HP:0000598	HP:0000365	Hearing impairment	3	CLRN2 CL E G H	645104	33939	OMIM:619174	DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLRN2 CL E G H	645104	33939	OMIM:619174	DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117
HP:0000598	HP:0000365	Hearing impairment	3	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000598	HP:0000365	Hearing impairment	3	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000598	HP:0000365	Hearing impairment	3	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000598	HP:0001751	Vestibular dysfunction	3	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal			47
HP:0000598	HP:0000365	Hearing impairment	3	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000365	Hearing impairment	3	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0000598	HP:0000365	Hearing impairment	3	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0000365	Hearing impairment	3	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0000598	HP:0000365	Hearing impairment	3	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0000598	HP:0000360	Tinnitus	3	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.		46
HP:0000598	HP:0000365	Hearing impairment	3	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0001751	Vestibular dysfunction	3	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0000365	Hearing impairment	3	COCH CL E G H	1690	2180	OMIM:618094	Deafness, autosomal recessive 110			46
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COCH CL E G H	1690	2180	OMIM:618094	Deafness, autosomal recessive 110	.		46
HP:0000598	HP:0001751	Vestibular dysfunction	3	COCH CL E G H	1690	2180	OMIM:618094	Deafness, autosomal recessive 110	.		46
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000598	HP:0000365	Hearing impairment	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000598	HP:0000365	Hearing impairment	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0000598	HP:0000365	Hearing impairment	3	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0000598	HP:0000365	Hearing impairment	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0000598	HP:0000365	Hearing impairment	3	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent		215
HP:0000598	HP:0000365	Hearing impairment	3	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		215
HP:0000598	HP:0000365	Hearing impairment	3	COL11A1 CL E G H	1301	2186	OMIM:618533	DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37			215
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A1 CL E G H	1301	2186	OMIM:618533	DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37			215
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0000598	HP:0000365	Hearing impairment	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000598	HP:0000365	Hearing impairment	3	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000598	HP:0000388	Otitis media	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent		215
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0000598	HP:0000365	Hearing impairment	3	COL11A1 CL E G H	1301	2186	ORPHA:90654	Stickler syndrome type 2			215
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A1 CL E G H	1301	2186	ORPHA:90654	Stickler syndrome type 2	HP:0040281 - Very frequent		215
HP:0000598	HP:0000365	Hearing impairment	3	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II			215
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II			215
HP:0000598	HP:0000365	Hearing impairment	3	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		222
HP:0000598	HP:0000365	Hearing impairment	3	COL11A2 CL E G H	1302	2187	OMIM:601868	Deafness, autosomal dominant nonsyndromic sensorineural 13			222
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A2 CL E G H	1302	2187	OMIM:601868	Deafness, autosomal dominant nonsyndromic sensorineural 13	.	HP:0003577 - Congenital onset	222
HP:0000598	HP:0000365	Hearing impairment	3	COL11A2 CL E G H	1302	2187	OMIM:609706	Deafness, autosomal recessive 53			222
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A2 CL E G H	1302	2187	OMIM:609706	Deafness, autosomal recessive 53	.		222
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0000598	HP:0000365	Hearing impairment	3	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000365	Hearing impairment	3	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		222
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.		222
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000365	Hearing impairment	3	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III			222
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III	.		222
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19			6
HP:0000598	HP:0000365	Hearing impairment	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0000598	HP:0000365	Hearing impairment	3	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	HP:0003581 - Adult onset	373
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0000598	HP:0000365	Hearing impairment	3	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.		373
HP:0000598	HP:0000365	Hearing impairment	3	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.		373
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0000598	HP:0000365	Hearing impairment	3	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000598	HP:0000365	Hearing impairment	3	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.		243
HP:0000598	HP:0000365	Hearing impairment	3	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.		243
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0000598	HP:0000365	Hearing impairment	3	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome	HP:0040284 - Very rare		1
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040283 - Occasional		284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			284
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040282 - Frequent		284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0000598	HP:0000388	Otitis media	3	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent		284
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040282 - Frequent		284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional		284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia			284
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.		284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040282 - Frequent		284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040282 - Frequent		284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.		284
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000598	HP:0000365	Hearing impairment	3	COL2A1 CL E G H	1280	2200	OMIM:609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR			284
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0000598	HP:0001751	Vestibular dysfunction	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0000598	HP:0000365	Hearing impairment	3	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant			161
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.		161
HP:0000598	HP:0000365	Hearing impairment	3	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive	.		161
HP:0000598	HP:0000365	Hearing impairment	3	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive	.		174
HP:0000598	HP:0000365	Hearing impairment	3	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked			678
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.		678
HP:0000598	HP:0000365	Hearing impairment	3	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		678
HP:0000598	HP:0000365	Hearing impairment	3	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6	.		18
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0000365	Hearing impairment	3	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		18
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0000598	HP:0000365	Hearing impairment	3	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		110
HP:0000598	HP:0000365	Hearing impairment	3	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0000598	HP:0000365	Hearing impairment	3	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		110
HP:0000598	HP:0000365	Hearing impairment	3	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V			110
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V	.		110
HP:0000598	HP:0000365	Hearing impairment	3	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0000598	HP:0000365	Hearing impairment	3	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		137
HP:0000598	HP:0000365	Hearing impairment	3	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000365	Hearing impairment	3	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3	.		3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0000598	HP:0000365	Hearing impairment	3	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent		9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000365	Hearing impairment	3	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	HP:0040283 - Occasional		9
HP:0000598	HP:0000365	Hearing impairment	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0000388	Otitis media	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0000365	Hearing impairment	3	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0000598	HP:0000365	Hearing impairment	3	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6	.		39
HP:0000598	HP:0000365	Hearing impairment	3	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0000598	HP:0000365	Hearing impairment	3	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040284 - Very rare		136
HP:0000598	HP:0000365	Hearing impairment	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000598	HP:0000365	Hearing impairment	3	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		104
HP:0000598	HP:0000365	Hearing impairment	3	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000598	HP:0000365	Hearing impairment	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0000598	HP:0000365	Hearing impairment	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000598	HP:0000365	Hearing impairment	3	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.		6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000365	Hearing impairment	3	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000365	Hearing impairment	3	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000598	HP:0000365	Hearing impairment	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000365	Hearing impairment	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000388	Otitis media	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0000598	HP:0000388	Otitis media	3	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		10
HP:0000598	HP:0000388	Otitis media	3	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2			10
HP:0000598	HP:0000365	Hearing impairment	3	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		156
HP:0000598	HP:0000365	Hearing impairment	3	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000598	HP:0000365	Hearing impairment	3	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.		4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0000598	HP:0000365	Hearing impairment	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0000365	Hearing impairment	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000598	HP:0000365	Hearing impairment	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0000598	HP:0000388	Otitis media	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0000598	HP:0000365	Hearing impairment	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000598	HP:0000388	Otitis media	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare		291
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000598	HP:0000365	Hearing impairment	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000598	HP:0000365	Hearing impairment	3	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		158
HP:0000598	HP:0000365	Hearing impairment	3	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000598	HP:0000365	Hearing impairment	3	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy			46
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		46
HP:0000598	HP:0000365	Hearing impairment	3	CRYM CL E G H	1428	2418	OMIM:616357	DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CRYM CL E G H	1428	2418	OMIM:616357	DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40			15
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0000598	HP:0000365	Hearing impairment	3	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	HP:0040283 - Occasional		57
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0000598	HP:0000365	Hearing impairment	3	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy			104
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		104
HP:0000598	HP:0000365	Hearing impairment	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000388	Otitis media	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria			38
HP:0000598	HP:0000365	Hearing impairment	3	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0000598	HP:0000388	Otitis media	3	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		10
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		10
HP:0000598	HP:0000365	Hearing impairment	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		88
HP:0000598	HP:0001751	Vestibular dysfunction	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000598	HP:0000365	Hearing impairment	3	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0000598	HP:0000365	Hearing impairment	3	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040284 - Very rare		88
HP:0000598	HP:0000365	Hearing impairment	3	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0000598	HP:0000365	Hearing impairment	3	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis	HP:0040281 - Very frequent		51
HP:0000598	HP:0000365	Hearing impairment	3	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	.		51
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0000598	HP:0000365	Hearing impairment	3	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.		38
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000598	HP:0000388	Otitis media	3	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000388	Otitis media	3	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		27
HP:0000598	HP:0000388	Otitis media	3	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		111
HP:0000598	HP:0000388	Otitis media	3	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0000598	HP:0000360	Tinnitus	3	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional		112
HP:0000598	HP:0000360	Tinnitus	3	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional		73
HP:0000598	HP:0000377	Abnormal pinna morphology	3	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0000598	HP:0000388	Otitis media	3	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0000598	HP:0000365	Hearing impairment	3	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040284 - Very rare		57
HP:0000598	HP:0000365	Hearing impairment	3	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	HP:0040283 - Occasional		57
HP:0000598	HP:0000365	Hearing impairment	3	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37	HP:0040282 - Frequent		4
HP:0000598	HP:0000365	Hearing impairment	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2			2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0000598	HP:0000365	Hearing impairment	3	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare		60
HP:0000598	HP:0001751	Vestibular dysfunction	3	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0000598	HP:0000365	Hearing impairment	3	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0000365	Hearing impairment	3	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.		87
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0000365	Hearing impairment	3	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			36
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040283 - Occasional		36
HP:0000598	HP:0000365	Hearing impairment	3	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0000598	HP:0000365	Hearing impairment	3	DCDC2 CL E G H	51473	18141	OMIM:610212	Deafness, autosomal recessive 66			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DCDC2 CL E G H	51473	18141	OMIM:610212	Deafness, autosomal recessive 66	.		8
HP:0000598	HP:0000365	Hearing impairment	3	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0000598	HP:0000365	Hearing impairment	3	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0000388	Otitis media	3	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional		94
HP:0000598	HP:0000388	Otitis media	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.		94
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0000598	HP:0000365	Hearing impairment	3	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000598	HP:0000388	Otitis media	3	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000598	HP:0000365	Hearing impairment	3	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		30
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		30
HP:0000598	HP:0000365	Hearing impairment	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0000365	Hearing impairment	3	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.		13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0000365	Hearing impairment	3	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0000598	HP:0000365	Hearing impairment	3	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040283 - Occasional		57
HP:0000598	HP:0000365	Hearing impairment	3	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000598	HP:0000365	Hearing impairment	3	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000598	HP:0000388	Otitis media	3	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0000598	HP:0000365	Hearing impairment	3	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy			263
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		263
HP:0000598	HP:0000365	Hearing impairment	3	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000598	HP:0000365	Hearing impairment	3	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.		57
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0000598	HP:0000365	Hearing impairment	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000365	Hearing impairment	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000388	Otitis media	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0000598	HP:0000365	Hearing impairment	3	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0000365	Hearing impairment	3	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.		47
HP:0000598	HP:0000365	Hearing impairment	3	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000365	Hearing impairment	3	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000598	HP:0000365	Hearing impairment	3	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000598	HP:0000365	Hearing impairment	3	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000360	Tinnitus	3	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64	.		11
HP:0000598	HP:0000365	Hearing impairment	3	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64			11
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64	.		11
HP:0000598	HP:0000365	Hearing impairment	3	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1			118
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1	.		118
HP:0000598	HP:0000365	Hearing impairment	3	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1	.		8
HP:0000598	HP:0001963	Abnormal speech discrimination	3	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1	.		8
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0000598	HP:0000365	Hearing impairment	3	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000598	HP:0000365	Hearing impairment	3	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000598	HP:0000365	Hearing impairment	3	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0000598	HP:0000365	Hearing impairment	3	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000598	HP:0000365	Hearing impairment	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0000598	HP:0000360	Tinnitus	3	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0000598	HP:0001751	Vestibular dysfunction	3	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0000598	HP:0000365	Hearing impairment	3	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0000598	HP:0000388	Otitis media	3	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000388	Otitis media	3	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000388	Otitis media	3	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0000365	Hearing impairment	3	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000598	HP:0000365	Hearing impairment	3	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000598	HP:0000365	Hearing impairment	3	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0000598	HP:0000365	Hearing impairment	3	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0000360	Tinnitus	3	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0000365	Hearing impairment	3	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0001751	Vestibular dysfunction	3	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0000365	Hearing impairment	3	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0000598	HP:0000388	Otitis media	3	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0000598	HP:0000365	Hearing impairment	3	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		3
HP:0000598	HP:0000365	Hearing impairment	3	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1			3
HP:0000598	HP:0000365	Hearing impairment	3	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss	.		3
HP:0000598	HP:0000365	Hearing impairment	3	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy			1496
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		1496
HP:0000598	HP:0000365	Hearing impairment	3	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0000598	HP:0000365	Hearing impairment	3	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive			48
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.		48
HP:0000598	HP:0000365	Hearing impairment	3	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71			3
HP:0000598	HP:0000365	Hearing impairment	3	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0000598	HP:0000365	Hearing impairment	3	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0000598	HP:0000365	Hearing impairment	3	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0000598	HP:0000388	Otitis media	3	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13			116
HP:0000598	HP:0000365	Hearing impairment	3	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		116
HP:0000598	HP:0000388	Otitis media	3	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0000598	HP:0000388	Otitis media	3	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0000598	HP:0000365	Hearing impairment	3	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000388	Otitis media	3	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0000598	HP:0000365	Hearing impairment	3	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		78
HP:0000598	HP:0000388	Otitis media	3	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0000598	HP:0000365	Hearing impairment	3	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	HP:0040283 - Occasional		63
HP:0000598	HP:0000388	Otitis media	3	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.		63
HP:0000598	HP:0000365	Hearing impairment	3	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		63
HP:0000598	HP:0000388	Otitis media	3	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0000598	HP:0000365	Hearing impairment	3	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		27
HP:0000598	HP:0000388	Otitis media	3	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0000598	HP:0000388	Otitis media	3	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18			62
HP:0000598	HP:0000365	Hearing impairment	3	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		62
HP:0000598	HP:0000388	Otitis media	3	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0000598	HP:0000365	Hearing impairment	3	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000365	Hearing impairment	3	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.		21
HP:0000598	HP:0000365	Hearing impairment	3	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0000598	HP:0000388	Otitis media	3	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0000388	Otitis media	3	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0000598	HP:0000365	Hearing impairment	3	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		542
HP:0000598	HP:0000388	Otitis media	3	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0000598	HP:0000388	Otitis media	3	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0000598	HP:0000365	Hearing impairment	3	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		527
HP:0000598	HP:0000388	Otitis media	3	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0000598	HP:0000365	Hearing impairment	3	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		18
HP:0000598	HP:0000388	Otitis media	3	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0000598	HP:0000365	Hearing impairment	3	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0000598	HP:0000388	Otitis media	3	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0000598	HP:0000365	Hearing impairment	3	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		73
HP:0000598	HP:0000388	Otitis media	3	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0000598	HP:0000388	Otitis media	3	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0000598	HP:0000365	Hearing impairment	3	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		104
HP:0000598	HP:0000388	Otitis media	3	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0000598	HP:0000365	Hearing impairment	3	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		2
HP:0000598	HP:0000388	Otitis media	3	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0000598	HP:0000365	Hearing impairment	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0000598	HP:0000365	Hearing impairment	3	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	HP:0040284 - Very rare		5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0000598	HP:0000365	Hearing impairment	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		5
HP:0000598	HP:0000365	Hearing impairment	3	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	.		3
HP:0000598	HP:0000365	Hearing impairment	3	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0000598	HP:0000365	Hearing impairment	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000388	Otitis media	3	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0000598	HP:0000365	Hearing impairment	3	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		167
HP:0000598	HP:0000388	Otitis media	3	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0000598	HP:0000365	Hearing impairment	3	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0000598	HP:0000365	Hearing impairment	3	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		94
HP:0000598	HP:0000365	Hearing impairment	3	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040281 - Very frequent		145
HP:0000598	HP:0000365	Hearing impairment	3	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant			145
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.		145
HP:0000598	HP:0000365	Hearing impairment	3	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	HP:0011462 - Young adult onset	145
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.		145
HP:0000598	HP:0000360	Tinnitus	3	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0000598	HP:0000365	Hearing impairment	3	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0000598	HP:0001751	Vestibular dysfunction	3	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0000598	HP:0000365	Hearing impairment	3	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		79
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0000598	HP:0000388	Otitis media	3	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.		11
HP:0000598	HP:0000388	Otitis media	3	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency			217
HP:0000598	HP:0000388	Otitis media	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive			217
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0000598	HP:0000365	Hearing impairment	3	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy			55
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		55
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0000598	HP:0000365	Hearing impairment	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare		38
HP:0000598	HP:0000365	Hearing impairment	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000598	HP:0000388	Otitis media	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000598	HP:0000365	Hearing impairment	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000598	HP:0000388	Otitis media	3	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0000598	HP:0000365	Hearing impairment	3	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		44
HP:0000598	HP:0000388	Otitis media	3	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0000598	HP:0000365	Hearing impairment	3	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional		13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000598	HP:0000365	Hearing impairment	3	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy			358
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		358
HP:0000598	HP:0000365	Hearing impairment	3	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy			747
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		747
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0000598	HP:0000360	Tinnitus	3	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	.		38
HP:0000598	HP:0000365	Hearing impairment	3	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1			38
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1			38
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0000598	HP:0000365	Hearing impairment	3	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000598	HP:0000365	Hearing impairment	3	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040284 - Very rare		121
HP:0000598	HP:0000365	Hearing impairment	3	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040284 - Very rare		11
HP:0000598	HP:0000365	Hearing impairment	3	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia	HP:0040283 - Occasional		4
HP:0000598	HP:0000365	Hearing impairment	3	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000365	Hearing impairment	3	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0000598	HP:0000365	Hearing impairment	3	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0000598	HP:0000365	Hearing impairment	3	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	HP:0040283 - Occasional		14
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000598	HP:0000365	Hearing impairment	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000598	HP:0000365	Hearing impairment	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0000598	HP:0000365	Hearing impairment	3	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare		134
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7	.		134
HP:0000598	HP:0000377	Abnormal pinna morphology	3	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0000365	Hearing impairment	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0000598	HP:0000365	Hearing impairment	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040283 - Occasional		51
HP:0000598	HP:0000365	Hearing impairment	3	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0000598	HP:0000365	Hearing impairment	3	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		33
HP:0000598	HP:0000365	Hearing impairment	3	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	HP:0040283 - Occasional		33
HP:0000598	HP:0000365	Hearing impairment	3	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50	HP:0040283 - Occasional		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000598	HP:0000365	Hearing impairment	3	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000365	Hearing impairment	3	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3			6
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3			6
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EDN1 CL E G H	1906	3176	OMIM:612798	Question mark ears, isolated			6
HP:0000598	HP:0000365	Hearing impairment	3	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		67
HP:0000598	HP:0000365	Hearing impairment	3	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.		67
HP:0000598	HP:0000365	Hearing impairment	3	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		67
HP:0000598	HP:0000365	Hearing impairment	3	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0000598	HP:0000365	Hearing impairment	3	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0000365	Hearing impairment	3	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome	.		55
HP:0000598	HP:0000365	Hearing impairment	3	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		55
HP:0000598	HP:0000365	Hearing impairment	3	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		55
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		55
HP:0000598	HP:0000365	Hearing impairment	3	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		55
HP:0000598	HP:0000365	Hearing impairment	3	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.		45
HP:0000598	HP:0000365	Hearing impairment	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0000598	HP:0000365	Hearing impairment	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0000598	HP:0000365	Hearing impairment	3	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0000365	Hearing impairment	3	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0000598	HP:0000365	Hearing impairment	3	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0000598	HP:0000365	Hearing impairment	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0000598	HP:0000365	Hearing impairment	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0000598	HP:0000365	Hearing impairment	3	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67	HP:0040284 - Very rare
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0000598	HP:0000365	Hearing impairment	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0000365	Hearing impairment	3	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17	HP:0040283 - Occasional		67
HP:0000598	HP:0000388	Otitis media	3	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional		79
HP:0000598	HP:0000365	Hearing impairment	3	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0000598	HP:0000365	Hearing impairment	3	ELMOD3 CL E G H	84173	26158	OMIM:619500	DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ELMOD3 CL E G H	84173	26158	OMIM:619500	DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81			1
HP:0000598	HP:0000365	Hearing impairment	3	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0000598	HP:0000365	Hearing impairment	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0000388	Otitis media	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0000598	HP:0000365	Hearing impairment	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0000388	Otitis media	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0000365	Hearing impairment	3	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000365	Hearing impairment	3	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0000598	HP:0000365	Hearing impairment	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		151
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0000365	Hearing impairment	3	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000598	HP:0000365	Hearing impairment	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0000598	HP:0000365	Hearing impairment	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000598	HP:0000388	Otitis media	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare		250
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000598	HP:0000360	Tinnitus	3	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0000598	HP:0000365	Hearing impairment	3	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0000598	HP:0001751	Vestibular dysfunction	3	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0000598	HP:0000365	Hearing impairment	3	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0000598	HP:0000365	Hearing impairment	3	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0000598	HP:0000365	Hearing impairment	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040283 - Occasional		40
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	HP:0040283 - Occasional		40
HP:0000598	HP:0001751	Vestibular dysfunction	3	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia			43
HP:0000598	HP:0000365	Hearing impairment	3	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	HP:0040284 - Very rare
HP:0000598	HP:0000365	Hearing impairment	3	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	EPS8 CL E G H	2059	3420	OMIM:615974	Deafness, autosomal recessive 102			2
HP:0000598	HP:0000365	Hearing impairment	3	EPS8L2 CL E G H	64787	21296	OMIM:617637	DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106			2
HP:0000598	HP:0000365	Hearing impairment	3	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6			1
HP:0000598	HP:0001751	Vestibular dysfunction	3	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0000598	HP:0000365	Hearing impairment	3	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		77
HP:0000598	HP:0000365	Hearing impairment	3	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2			77
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2			77
HP:0000598	HP:0000365	Hearing impairment	3	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		12
HP:0000598	HP:0000365	Hearing impairment	3	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0000598	HP:0000365	Hearing impairment	3	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0000598	HP:0000365	Hearing impairment	3	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		20
HP:0000598	HP:0000365	Hearing impairment	3	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0000598	HP:0000365	Hearing impairment	3	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		106
HP:0000598	HP:0000365	Hearing impairment	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0000598	HP:0000365	Hearing impairment	3	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		106
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		106
HP:0000598	HP:0000365	Hearing impairment	3	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0000598	HP:0000365	Hearing impairment	3	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		106
HP:0000598	HP:0000365	Hearing impairment	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000598	HP:0000365	Hearing impairment	3	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		54
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		54
HP:0000598	HP:0000365	Hearing impairment	3	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.		54
HP:0000598	HP:0000365	Hearing impairment	3	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		54
HP:0000598	HP:0000365	Hearing impairment	3	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		158
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0000598	HP:0000365	Hearing impairment	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0000598	HP:0000365	Hearing impairment	3	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		158
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		158
HP:0000598	HP:0000365	Hearing impairment	3	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0000598	HP:0000365	Hearing impairment	3	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		158
HP:0000598	HP:0000365	Hearing impairment	3	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0000598	HP:0000365	Hearing impairment	3	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		83
HP:0000598	HP:0000365	Hearing impairment	3	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		83
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		83
HP:0000598	HP:0000365	Hearing impairment	3	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		83
HP:0000598	HP:0000365	Hearing impairment	3	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0000598	HP:0000365	Hearing impairment	3	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		199
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0000598	HP:0000365	Hearing impairment	3	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0000598	HP:0000365	Hearing impairment	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000598	HP:0000365	Hearing impairment	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0000598	HP:0000365	Hearing impairment	3	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		199
HP:0000598	HP:0000365	Hearing impairment	3	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0000598	HP:0000365	Hearing impairment	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0000598	HP:0000365	Hearing impairment	3	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		55
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0000598	HP:0000365	Hearing impairment	3	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0000598	HP:0000365	Hearing impairment	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000598	HP:0000365	Hearing impairment	3	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		12
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0000598	HP:0000365	Hearing impairment	3	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement	.	HP:0003593 - Infantile onset	33
HP:0000598	HP:0001751	Vestibular dysfunction	3	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement			33
HP:0000598	HP:0000365	Hearing impairment	3	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000598	HP:0001751	Vestibular dysfunction	3	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000598	HP:0000365	Hearing impairment	3	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000598	HP:0001751	Vestibular dysfunction	3	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000598	HP:0000365	Hearing impairment	3	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0000365	Hearing impairment	3	ESRRB CL E G H	2103	3473	OMIM:608565	DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35			78
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ESRRB CL E G H	2103	3473	OMIM:608565	DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35			78
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000598	HP:0000365	Hearing impairment	3	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000598	HP:0000365	Hearing impairment	3	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000598	HP:0000365	Hearing impairment	3	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000598	HP:0000365	Hearing impairment	3	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000598	HP:0000365	Hearing impairment	3	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040281 - Very frequent		135
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0000365	Hearing impairment	3	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040281 - Very frequent		135
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0000598	HP:0000365	Hearing impairment	3	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000365	Hearing impairment	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000365	Hearing impairment	3	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0000598	HP:0000365	Hearing impairment	3	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000365	Hearing impairment	3	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0000598	HP:0000365	Hearing impairment	3	EYA4 CL E G H	2070	3522	OMIM:601316	Deafness, autosomal dominant nonsyndromic sensorineural 10			111
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EYA4 CL E G H	2070	3522	OMIM:601316	Deafness, autosomal dominant nonsyndromic sensorineural 10	.		111
HP:0000598	HP:0000365	Hearing impairment	3	EYA4 CL E G H	2070	3522	ORPHA:217622	Sensorineural deafness with dilated cardiomyopathy	HP:0040281 - Very frequent		111
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	EYA4 CL E G H	2070	3522	ORPHA:217622	Sensorineural deafness with dilated cardiomyopathy	HP:0040281 - Very frequent		111
HP:0000598	HP:0000365	Hearing impairment	3	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0000598	HP:0000377	Abnormal pinna morphology	3	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0000598	HP:0000365	Hearing impairment	3	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000598	HP:0000365	Hearing impairment	3	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000365	Hearing impairment	3	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0000598	HP:0000365	Hearing impairment	3	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0000365	Hearing impairment	3	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.		340
HP:0000598	HP:0000365	Hearing impairment	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0000598	HP:0000365	Hearing impairment	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0000598	HP:0000365	Hearing impairment	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0000598	HP:0000365	Hearing impairment	3	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.		410
HP:0000598	HP:0000365	Hearing impairment	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0000598	HP:0000365	Hearing impairment	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000598	HP:0000365	Hearing impairment	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0000598	HP:0000365	Hearing impairment	3	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0000598	HP:0000365	Hearing impairment	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0000598	HP:0000365	Hearing impairment	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0000365	Hearing impairment	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0000598	HP:0000365	Hearing impairment	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0000598	HP:0000365	Hearing impairment	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0000598	HP:0000365	Hearing impairment	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0000598	HP:0000365	Hearing impairment	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0000598	HP:0000365	Hearing impairment	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0000598	HP:0000365	Hearing impairment	3	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	HP:0040283 - Occasional		36
HP:0000598	HP:0001751	Vestibular dysfunction	3	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0000598	HP:0000365	Hearing impairment	3	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		59
HP:0000598	HP:0000365	Hearing impairment	3	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0000598	HP:0000365	Hearing impairment	3	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000598	HP:0000365	Hearing impairment	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0000598	HP:0000365	Hearing impairment	3	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0000598	HP:0000365	Hearing impairment	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000598	HP:0000365	Hearing impairment	3	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional		1361
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000598	HP:0000365	Hearing impairment	3	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation			37
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		37
HP:0000598	HP:0000365	Hearing impairment	3	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0000388	Otitis media	3	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000598	HP:0000365	Hearing impairment	3	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy	.
HP:0000598	HP:0000365	Hearing impairment	3	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0000598	HP:0000365	Hearing impairment	3	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000365	Hearing impairment	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent		17
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0001751	Vestibular dysfunction	3	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0000598	HP:0000365	Hearing impairment	3	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000365	Hearing impairment	3	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0000598	HP:0000365	Hearing impairment	3	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040281 - Very frequent		18
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040281 - Very frequent		18
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0000365	Hearing impairment	3	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0000365	Hearing impairment	3	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000598	HP:0000388	Otitis media	3	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000598	HP:0000365	Hearing impairment	3	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000598	HP:0000365	Hearing impairment	3	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia			17
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia			17
HP:0000598	HP:0000365	Hearing impairment	3	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000365	Hearing impairment	3	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000598	HP:0000365	Hearing impairment	3	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0000598	HP:0000365	Hearing impairment	3	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0000598	HP:0000365	Hearing impairment	3	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000598	HP:0000365	Hearing impairment	3	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome			75
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome			75
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome			172
HP:0000598	HP:0000365	Hearing impairment	3	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.		172
HP:0000598	HP:0000365	Hearing impairment	3	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0000598	HP:0000365	Hearing impairment	3	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0000598	HP:0000365	Hearing impairment	3	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0000598	HP:0000365	Hearing impairment	3	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040283 - Occasional		172
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1			172
HP:0000598	HP:0000365	Hearing impairment	3	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0000598	HP:0000365	Hearing impairment	3	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		172
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		175
HP:0000598	HP:0000365	Hearing impairment	3	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.		175
HP:0000598	HP:0000365	Hearing impairment	3	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000598	HP:0000388	Otitis media	3	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0000598	HP:0000365	Hearing impairment	3	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		175
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000598	HP:0000365	Hearing impairment	3	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0000598	HP:0000365	Hearing impairment	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000365	Hearing impairment	3	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent		175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000365	Hearing impairment	3	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040283 - Occasional		175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1			175
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0000598	HP:0000365	Hearing impairment	3	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional		175
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000598	HP:0000365	Hearing impairment	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0000365	Hearing impairment	3	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.		175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent		145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0000598	HP:0000388	Otitis media	3	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent		145
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0000598	HP:0000388	Otitis media	3	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.		145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	HP:0040281 - Very frequent		145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome			145
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome			145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent		145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent		145
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0000598	HP:0000388	Otitis media	3	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent		145
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.		145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent		145
HP:0000598	HP:0000365	Hearing impairment	3	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040282 - Frequent		145
HP:0000598	HP:0000365	Hearing impairment	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000360	Tinnitus	3	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000598	HP:0000365	Hearing impairment	3	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000598	HP:0001751	Vestibular dysfunction	3	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0000598	HP:0000365	Hearing impairment	3	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy			36
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		36
HP:0000598	HP:0000365	Hearing impairment	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000365	Hearing impairment	3	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000365	Hearing impairment	3	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0000598	HP:0000365	Hearing impairment	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0000598	HP:0000365	Hearing impairment	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0001751	Vestibular dysfunction	3	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0000598	HP:0000365	Hearing impairment	3	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0000598	HP:0000365	Hearing impairment	3	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0000598	HP:0000365	Hearing impairment	3	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040281 - Very frequent		13
HP:0000598	HP:0000365	Hearing impairment	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0000598	HP:0000365	Hearing impairment	3	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy			184
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		184
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0000598	HP:0000365	Hearing impairment	3	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000598	HP:0001751	Vestibular dysfunction	3	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0000598	HP:0000365	Hearing impairment	3	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000598	HP:0000388	Otitis media	3	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0000598	HP:0000365	Hearing impairment	3	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent		493
HP:0000598	HP:0000365	Hearing impairment	3	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked			493
HP:0000598	HP:0000365	Hearing impairment	3	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent		493
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0000598	HP:0000388	Otitis media	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0000598	HP:0000365	Hearing impairment	3	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent		493
HP:0000598	HP:0000365	Hearing impairment	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent		493
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent		493
HP:0000598	HP:0000365	Hearing impairment	3	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0000598	HP:0000365	Hearing impairment	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0000598	HP:0000365	Hearing impairment	3	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0000598	HP:0000365	Hearing impairment	3	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0000598	HP:0000365	Hearing impairment	3	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0000598	HP:0000365	Hearing impairment	3	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia	HP:0040283 - Occasional		4
HP:0000598	HP:0000365	Hearing impairment	3	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0000598	HP:0000388	Otitis media	3	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040282 - Frequent		30
HP:0000598	HP:0000365	Hearing impairment	3	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0000598	HP:0000388	Otitis media	3	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000598	HP:0000388	Otitis media	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000598	HP:0000365	Hearing impairment	3	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040282 - Frequent		63
HP:0000598	HP:0000365	Hearing impairment	3	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.		63
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0000598	HP:0000365	Hearing impairment	3	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000598	HP:0000365	Hearing impairment	3	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000598	HP:0000365	Hearing impairment	3	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0000598	HP:0000365	Hearing impairment	3	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000598	HP:0000365	Hearing impairment	3	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct	.		33
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct			33
HP:0000598	HP:0000365	Hearing impairment	3	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0000598	HP:0000365	Hearing impairment	3	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		33
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0000598	HP:0001751	Vestibular dysfunction	3	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0001751	Vestibular dysfunction	3	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.		33
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0000598	HP:0000365	Hearing impairment	3	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0000598	HP:0000388	Otitis media	3	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0000598	HP:0000365	Hearing impairment	3	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0000598	HP:0000365	Hearing impairment	3	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		61
HP:0000598	HP:0000365	Hearing impairment	3	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000598	HP:0000365	Hearing impairment	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0000598	HP:0000365	Hearing impairment	3	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000598	HP:0000365	Hearing impairment	3	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0000598	HP:0000365	Hearing impairment	3	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000598	HP:0000365	Hearing impairment	3	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		50
HP:0000598	HP:0000365	Hearing impairment	3	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0000598	HP:0000365	Hearing impairment	3	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0000598	HP:0000365	Hearing impairment	3	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent		43
HP:0000598	HP:0000365	Hearing impairment	3	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0000598	HP:0000365	Hearing impairment	3	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040283 - Occasional		18
HP:0000598	HP:0001751	Vestibular dysfunction	3	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0000598	HP:0000365	Hearing impairment	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000598	HP:0000365	Hearing impairment	3	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0000598	HP:0000365	Hearing impairment	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0000598	HP:0000388	Otitis media	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0000598	HP:0000365	Hearing impairment	3	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040283 - Occasional		407
HP:0000598	HP:0000365	Hearing impairment	3	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0000598	HP:0000365	Hearing impairment	3	GAB1 CL E G H	2549	4066	OMIM:605428	Deafness, autosomal recessive 26			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GAB1 CL E G H	2549	4066	OMIM:605428	Deafness, autosomal recessive 26	.		1
HP:0000598	HP:0000365	Hearing impairment	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000598	HP:0000365	Hearing impairment	3	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0000598	HP:0000365	Hearing impairment	3	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0000598	HP:0000365	Hearing impairment	3	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0000598	HP:0000365	Hearing impairment	3	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare		23
HP:0000598	HP:0000365	Hearing impairment	3	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0000598	HP:0000365	Hearing impairment	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0000365	Hearing impairment	3	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000598	HP:0000365	Hearing impairment	3	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000598	HP:0000365	Hearing impairment	3	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0000598	HP:0000365	Hearing impairment	3	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000598	HP:0000388	Otitis media	3	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41			1
HP:0000598	HP:0000365	Hearing impairment	3	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		1
HP:0000598	HP:0000388	Otitis media	3	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0000598	HP:0000365	Hearing impairment	3	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0000598	HP:0000388	Otitis media	3	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0000598	HP:0000365	Hearing impairment	3	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		9
HP:0000598	HP:0000388	Otitis media	3	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0000598	HP:0000365	Hearing impairment	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000598	HP:0000365	Hearing impairment	3	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0000598	HP:0000388	Otitis media	3	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent		137
HP:0000598	HP:0001751	Vestibular dysfunction	3	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0000598	HP:0000365	Hearing impairment	3	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000598	HP:0000365	Hearing impairment	3	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0000598	HP:0000365	Hearing impairment	3	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy			35
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		35
HP:0000598	HP:0000365	Hearing impairment	3	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0000598	HP:0000365	Hearing impairment	3	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000598	HP:0000365	Hearing impairment	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040283 - Occasional		30
HP:0000598	HP:0000365	Hearing impairment	3	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional		30
HP:0000598	HP:0000365	Hearing impairment	3	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	HP:0040283 - Occasional		30
HP:0000598	HP:0001751	Vestibular dysfunction	3	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0000598	HP:0001751	Vestibular dysfunction	3	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0000598	HP:0000365	Hearing impairment	3	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		86
HP:0000598	HP:0000365	Hearing impairment	3	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		237
HP:0000598	HP:0000365	Hearing impairment	3	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000598	HP:0000365	Hearing impairment	3	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040282 - Frequent		7
HP:0000598	HP:0000365	Hearing impairment	3	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome			52
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome			52
HP:0000598	HP:0000365	Hearing impairment	3	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040282 - Frequent		52
HP:0000598	HP:0000365	Hearing impairment	3	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040282 - Frequent		64
HP:0000598	HP:0000365	Hearing impairment	3	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0000365	Hearing impairment	3	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		64
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4			64
HP:0000598	HP:0000365	Hearing impairment	3	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		59
HP:0000598	HP:0000365	Hearing impairment	3	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0000598	HP:0000365	Hearing impairment	3	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay			14
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay			14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0000598	HP:0000365	Hearing impairment	3	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000598	HP:0000365	Hearing impairment	3	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0000365	Hearing impairment	3	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15			40
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15			40
HP:0000598	HP:0000365	Hearing impairment	3	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0000598	HP:0000365	Hearing impairment	3	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional		68
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0000598	HP:0000365	Hearing impairment	3	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0000598	HP:0000365	Hearing impairment	3	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		68
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0000598	HP:0000365	Hearing impairment	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0000598	HP:0000365	Hearing impairment	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000598	HP:0000365	Hearing impairment	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0000365	Hearing impairment	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0000365	Hearing impairment	3	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	HP:0040283 - Occasional		107
HP:0000598	HP:0000365	Hearing impairment	3	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040283 - Occasional		107
HP:0000598	HP:0000365	Hearing impairment	3	GJB2 CL E G H	2706	4284	OMIM:601544	Deafness, autosomal dominant nonsyndromic sensorineural 3			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB2 CL E G H	2706	4284	OMIM:601544	Deafness, autosomal dominant nonsyndromic sensorineural 3	.		199
HP:0000598	HP:0000365	Hearing impairment	3	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A	.		199
HP:0000598	HP:0001751	Vestibular dysfunction	3	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A	HP:0040283 - Occasional		199
HP:0000598	HP:0000365	Hearing impairment	3	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0000365	Hearing impairment	3	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.		199
HP:0000598	HP:0000365	Hearing impairment	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0000598	HP:0000365	Hearing impairment	3	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040283 - Occasional		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040281 - Very frequent		199
HP:0000598	HP:0000365	Hearing impairment	3	GJB2 CL E G H	2706	4284	OMIM:148350	Keratoderma, palmoplantar, with deafness	.	HP:0011463 - Childhood onset	199
HP:0000598	HP:0000365	Hearing impairment	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040283 - Occasional		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		199
HP:0000598	HP:0000365	Hearing impairment	3	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness	.		199
HP:0000598	HP:0000365	Hearing impairment	3	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	HP:0040281 - Very frequent		199
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0000365	Hearing impairment	3	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome	HP:0040281 - Very frequent		199
HP:0000598	HP:0000365	Hearing impairment	3	GJB3 CL E G H	2707	4285	OMIM:612644	Deafness, autosomal dominant 2B			74
HP:0000598	HP:0000365	Hearing impairment	3	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A			74
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A	.		74
HP:0000598	HP:0001751	Vestibular dysfunction	3	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A	HP:0040283 - Occasional		74
HP:0000598	HP:0000365	Hearing impairment	3	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		74
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0000598	HP:0000365	Hearing impairment	3	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0000598	HP:0000365	Hearing impairment	3	GJB6 CL E G H	10804	4288	OMIM:612643	Deafness, autosomal dominant 3B			56
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB6 CL E G H	10804	4288	OMIM:612643	Deafness, autosomal dominant 3B			56
HP:0000598	HP:0000365	Hearing impairment	3	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A			56
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A	.		56
HP:0000598	HP:0001751	Vestibular dysfunction	3	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A	HP:0040283 - Occasional		56
HP:0000598	HP:0000365	Hearing impairment	3	GJB6 CL E G H	10804	4288	OMIM:612645	Deafness, autosomal recessive 1B	.		56
HP:0000598	HP:0001751	Vestibular dysfunction	3	GJB6 CL E G H	10804	4288	OMIM:612645	Deafness, autosomal recessive 1B	HP:0040283 - Occasional		56
HP:0000598	HP:0000365	Hearing impairment	3	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0000365	Hearing impairment	3	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0000598	HP:0000365	Hearing impairment	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040283 - Occasional		56
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		56
HP:0000598	HP:0000365	Hearing impairment	3	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040282 - Frequent		37
HP:0000598	HP:0000365	Hearing impairment	3	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	HP:0040282 - Frequent		37
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0000598	HP:0000365	Hearing impairment	3	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0000598	HP:0001751	Vestibular dysfunction	3	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0000598	HP:0000365	Hearing impairment	3	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040281 - Very frequent		120
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000598	HP:0000365	Hearing impairment	3	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0000598	HP:0000365	Hearing impairment	3	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000598	HP:0000365	Hearing impairment	3	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000598	HP:0000365	Hearing impairment	3	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0000598	HP:0000365	Hearing impairment	3	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000598	HP:0000365	Hearing impairment	3	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional		270
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV			270
HP:0000598	HP:0000365	Hearing impairment	3	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040284 - Very rare		270
HP:0000598	HP:0000365	Hearing impairment	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional		143
HP:0000598	HP:0000388	Otitis media	3	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0000598	HP:0000365	Hearing impairment	3	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0000598	HP:0000365	Hearing impairment	3	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional		6
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	HP:0040283 - Occasional		6
HP:0000598	HP:0000365	Hearing impairment	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000598	HP:0000365	Hearing impairment	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0000365	Hearing impairment	3	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	HP:0040283 - Occasional		24
HP:0000598	HP:0000365	Hearing impairment	3	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		24
HP:0000598	HP:0000365	Hearing impairment	3	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.		34
HP:0000598	HP:0000365	Hearing impairment	3	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000598	HP:0000365	Hearing impairment	3	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional		101
HP:0000598	HP:0000365	Hearing impairment	3	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.		101
HP:0000598	HP:0000365	Hearing impairment	3	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000598	HP:0000365	Hearing impairment	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000598	HP:0000388	Otitis media	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0000598	HP:0000388	Otitis media	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0000598	HP:0000365	Hearing impairment	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0000598	HP:0000388	Otitis media	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent		240
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040284 - Very rare		240
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0000598	HP:0000365	Hearing impairment	3	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0000598	HP:0000365	Hearing impairment	3	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0000598	HP:0000365	Hearing impairment	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000598	HP:0000388	Otitis media	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000598	HP:0000365	Hearing impairment	3	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0000598	HP:0000365	Hearing impairment	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0000388	Otitis media	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0000365	Hearing impairment	3	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0000598	HP:0000365	Hearing impairment	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000598	HP:0000365	Hearing impairment	3	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000598	HP:0000365	Hearing impairment	3	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000598	HP:0000365	Hearing impairment	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0000598	HP:0000365	Hearing impairment	3	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7	.
HP:0000598	HP:0000365	Hearing impairment	3	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0000598	HP:0000365	Hearing impairment	3	GRAP CL E G H	10750	4562	OMIM:618456	Deafness, autosomal recessive 114
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GRAP CL E G H	10750	4562	OMIM:618456	Deafness, autosomal recessive 114
HP:0000598	HP:0000365	Hearing impairment	3	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0000598	HP:0000365	Hearing impairment	3	GRHL2 CL E G H	79977	2799	OMIM:608641	Deafness, autosomal dominant nonsyndromic sensorineural 28			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GRHL2 CL E G H	79977	2799	OMIM:608641	Deafness, autosomal dominant nonsyndromic sensorineural 28	.		33
HP:0000598	HP:0000365	Hearing impairment	3	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0000598	HP:0000388	Otitis media	3	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000598	HP:0000365	Hearing impairment	3	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000598	HP:0000365	Hearing impairment	3	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000598	HP:0000360	Tinnitus	3	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0000598	HP:0000365	Hearing impairment	3	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0000598	HP:0000365	Hearing impairment	3	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25			36
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25			36
HP:0000598	HP:0000365	Hearing impairment	3	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101			3
HP:0000598	HP:0000365	Hearing impairment	3	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0000598	HP:0000365	Hearing impairment	3	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5			87
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5			87
HP:0000598	HP:0000365	Hearing impairment	3	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent		53
HP:0000598	HP:0000365	Hearing impairment	3	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0000598	HP:0000365	Hearing impairment	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000598	HP:0000365	Hearing impairment	3	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000598	HP:0000365	Hearing impairment	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000365	Hearing impairment	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0000598	HP:0000365	Hearing impairment	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000388	Otitis media	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000388	Otitis media	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000388	Otitis media	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0000598	HP:0000365	Hearing impairment	3	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000598	HP:0000365	Hearing impairment	3	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		124
HP:0000598	HP:0000365	Hearing impairment	3	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0000598	HP:0000365	Hearing impairment	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0000598	HP:0000388	Otitis media	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000598	HP:0001751	Vestibular dysfunction	3	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0000598	HP:0000365	Hearing impairment	3	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	HP:0040284 - Very rare
HP:0000598	HP:0000377	Abnormal pinna morphology	3	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000598	HP:0000365	Hearing impairment	3	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000598	HP:0000388	Otitis media	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000598	HP:0040262	Glue ear	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000598	HP:0000365	Hearing impairment	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0000377	Abnormal pinna morphology	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0000388	Otitis media	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0000365	Hearing impairment	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000598	HP:0000377	Abnormal pinna morphology	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000598	HP:0000365	Hearing impairment	3	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.		2
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0000598	HP:0000365	Hearing impairment	3	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0000598	HP:0000365	Hearing impairment	3	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0000365	Hearing impairment	3	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		2
HP:0000598	HP:0000365	Hearing impairment	3	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000598	HP:0001751	Vestibular dysfunction	3	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000365	Hearing impairment	3	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB	.
HP:0000598	HP:0000365	Hearing impairment	3	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2			29
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2			29
HP:0000598	HP:0000365	Hearing impairment	3	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0000598	HP:0000365	Hearing impairment	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000598	HP:0000365	Hearing impairment	3	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.		11
HP:0000598	HP:0000365	Hearing impairment	3	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0000598	HP:0000365	Hearing impairment	3	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	HP:0040283 - Occasional		33
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0000598	HP:0000365	Hearing impairment	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		37
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0000365	Hearing impairment	3	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	HP:0040283 - Occasional		37
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0000598	HP:0000388	Otitis media	3	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0000598	HP:0000365	Hearing impairment	3	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		21
HP:0000598	HP:0000365	Hearing impairment	3	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0000598	HP:0000365	Hearing impairment	3	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		21
HP:0000598	HP:0000365	Hearing impairment	3	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0000598	HP:0000365	Hearing impairment	3	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39			39
HP:0000598	HP:0000365	Hearing impairment	3	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0000598	HP:0000365	Hearing impairment	3	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000598	HP:0000365	Hearing impairment	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0000388	Otitis media	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000598	HP:0000365	Hearing impairment	3	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000598	HP:0001751	Vestibular dysfunction	3	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0000598	HP:0000365	Hearing impairment	3	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000598	HP:0001751	Vestibular dysfunction	3	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0000598	HP:0000365	Hearing impairment	3	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0000388	Otitis media	3	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0000598	HP:0000388	Otitis media	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		1
HP:0000598	HP:0000365	Hearing impairment	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000598	HP:0001751	Vestibular dysfunction	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.		2
HP:0000598	HP:0000365	Hearing impairment	3	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional		90
HP:0000598	HP:0000365	Hearing impairment	3	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional		90
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0000598	HP:0000365	Hearing impairment	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000598	HP:0000365	Hearing impairment	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000598	HP:0000365	Hearing impairment	3	HOMER2 CL E G H	9455	17513	OMIM:616707	DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HOMER2 CL E G H	9455	17513	OMIM:616707	DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68			1
HP:0000598	HP:0000365	Hearing impairment	3	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000598	HP:0000365	Hearing impairment	3	HOXA11 CL E G H	3207	5101	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HOXA11 CL E G H	3207	5101	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000365	Hearing impairment	3	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.		3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent		21
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0000598	HP:0000365	Hearing impairment	3	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000365	Hearing impairment	3	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000598	HP:0000365	Hearing impairment	3	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0000365	Hearing impairment	3	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0000598	HP:0000365	Hearing impairment	3	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000598	HP:0000365	Hearing impairment	3	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0000598	HP:0000365	Hearing impairment	3	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0000598	HP:0000365	Hearing impairment	3	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000598	HP:0000365	Hearing impairment	3	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.		98
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0000598	HP:0000365	Hearing impairment	3	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040284 - Very rare		46
HP:0000598	HP:0000365	Hearing impairment	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0000598	HP:0000365	Hearing impairment	3	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	HP:0040283 - Occasional		39
HP:0000598	HP:0000365	Hearing impairment	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000598	HP:0000388	Otitis media	3	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0000598	HP:0000388	Otitis media	3	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5			21
HP:0000598	HP:0000365	Hearing impairment	3	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0000598	HP:0000388	Otitis media	3	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000598	HP:0000365	Hearing impairment	3	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0000598	HP:0000365	Hearing impairment	3	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0000598	HP:0000388	Otitis media	3	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		32
HP:0000598	HP:0000388	Otitis media	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1			32
HP:0000598	HP:0000388	Otitis media	3	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000598	HP:0000365	Hearing impairment	3	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000365	Hearing impairment	3	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0000365	Hearing impairment	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent		86
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000598	HP:0000365	Hearing impairment	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000598	HP:0000365	Hearing impairment	3	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0000598	HP:0000388	Otitis media	3	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0000598	HP:0000365	Hearing impairment	3	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	HP:0040283 - Occasional		115
HP:0000598	HP:0000365	Hearing impairment	3	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent		115
HP:0000598	HP:0000388	Otitis media	3	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0000598	HP:0000365	Hearing impairment	3	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040282 - Frequent		115
HP:0000598	HP:0000365	Hearing impairment	3	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome			115
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040283 - Occasional		115
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0000598	HP:0000365	Hearing impairment	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0000598	HP:0001751	Vestibular dysfunction	3	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0000598	HP:0000365	Hearing impairment	3	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040282 - Frequent		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0000598	HP:0000365	Hearing impairment	3	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		148
HP:0000598	HP:0000365	Hearing impairment	3	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000598	HP:0000365	Hearing impairment	3	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		48
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0000598	HP:0000365	Hearing impairment	3	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000365	Hearing impairment	3	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0000598	HP:0000365	Hearing impairment	3	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0000598	HP:0000365	Hearing impairment	3	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000365	Hearing impairment	3	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0000598	HP:0000365	Hearing impairment	3	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000365	Hearing impairment	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0000598	HP:0000365	Hearing impairment	3	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0000598	HP:0000388	Otitis media	3	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0000598	HP:0000388	Otitis media	3	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0000598	HP:0000388	Otitis media	3	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0000598	HP:0000388	Otitis media	3	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0000598	HP:0000388	Otitis media	3	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0000598	HP:0000388	Otitis media	3	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0000598	HP:0000388	Otitis media	3	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A			4
HP:0000598	HP:0001751	Vestibular dysfunction	3	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0000598	HP:0000365	Hearing impairment	3	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0000388	Otitis media	3	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0001751	Vestibular dysfunction	3	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000598	HP:0001751	Vestibular dysfunction	3	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000598	HP:0000388	Otitis media	3	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51			196
HP:0000598	HP:0000365	Hearing impairment	3	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia	HP:0040283 - Occasional		9
HP:0000598	HP:0000365	Hearing impairment	3	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0000598	HP:0000388	Otitis media	3	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0000598	HP:0001751	Vestibular dysfunction	3	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0000598	HP:0000388	Otitis media	3	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0000598	HP:0000388	Otitis media	3	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.		48
HP:0000598	HP:0000388	Otitis media	3	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5			1
HP:0000598	HP:0000388	Otitis media	3	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000598	HP:0000388	Otitis media	3	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	.		94
HP:0000598	HP:0000365	Hearing impairment	3	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42			42
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42	.		42
HP:0000598	HP:0000365	Hearing impairment	3	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		52
HP:0000598	HP:0000365	Hearing impairment	3	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000598	HP:0000365	Hearing impairment	3	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0000365	Hearing impairment	3	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000598	HP:0000377	Abnormal pinna morphology	3	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0000598	HP:0000377	Abnormal pinna morphology	3	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000598	HP:0000377	Abnormal pinna morphology	3	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000598	HP:0000377	Abnormal pinna morphology	3	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000598	HP:0000377	Abnormal pinna morphology	3	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0000598	HP:0000365	Hearing impairment	3	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		62
HP:0000598	HP:0000377	Abnormal pinna morphology	3	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0000598	HP:0000377	Abnormal pinna morphology	3	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0000598	HP:0000377	Abnormal pinna morphology	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0000598	HP:0000377	Abnormal pinna morphology	3	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000598	HP:0000365	Hearing impairment	3	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000598	HP:0000377	Abnormal pinna morphology	3	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000598	HP:0000377	Abnormal pinna morphology	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0000365	Hearing impairment	3	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		61
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0000598	HP:0000365	Hearing impairment	3	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000598	HP:0000388	Otitis media	3	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0000598	HP:0001751	Vestibular dysfunction	3	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0000598	HP:0000388	Otitis media	3	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		4
HP:0000598	HP:0000365	Hearing impairment	3	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0000598	HP:0000388	Otitis media	3	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0000598	HP:0000365	Hearing impairment	3	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0000598	HP:0000388	Otitis media	3	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0000598	HP:0040115	Abnormal Eustachian tube morphology	3	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		99
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0000598	HP:0000365	Hearing impairment	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0000598	HP:0000365	Hearing impairment	3	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0000598	HP:0000365	Hearing impairment	3	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1			4
HP:0000598	HP:0000365	Hearing impairment	3	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0000598	HP:0000365	Hearing impairment	3	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0000598	HP:0000365	Hearing impairment	3	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish	.		3
HP:0000598	HP:0000365	Hearing impairment	3	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040284 - Very rare		130
HP:0000598	HP:0000377	Abnormal pinna morphology	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000598	HP:0000365	Hearing impairment	3	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0000598	HP:0001751	Vestibular dysfunction	3	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0000598	HP:0000388	Otitis media	3	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive			8
HP:0000598	HP:0001751	Vestibular dysfunction	3	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0000598	HP:0001751	Vestibular dysfunction	3	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0000598	HP:0000360	Tinnitus	3	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		57
HP:0000598	HP:0001751	Vestibular dysfunction	3	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0000598	HP:0000388	Otitis media	3	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type			140
HP:0000598	HP:0000388	Otitis media	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0000598	HP:0000365	Hearing impairment	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0000388	Otitis media	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0000598	HP:0001751	Vestibular dysfunction	3	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0000598	HP:0000365	Hearing impairment	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0000598	HP:0000388	Otitis media	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000598	HP:0000365	Hearing impairment	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0000598	HP:0000388	Otitis media	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0000598	HP:0000365	Hearing impairment	3	KARS1 CL E G H	3735	6215	OMIM:613916	Deafness, autosomal recessive 89	.
HP:0000598	HP:0000365	Hearing impairment	3	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000598	HP:0000365	Hearing impairment	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0000388	Otitis media	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0000598	HP:0000365	Hearing impairment	3	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0000598	HP:0000365	Hearing impairment	3	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040283 - Occasional		141
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant			141
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000598	HP:0001751	Vestibular dysfunction	3	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0000598	HP:0001751	Vestibular dysfunction	3	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1			145
HP:0000598	HP:0000365	Hearing impairment	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0000365	Hearing impairment	3	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	HP:0040283 - Occasional		17
HP:0000598	HP:0000365	Hearing impairment	3	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional		17
HP:0000598	HP:0000365	Hearing impairment	3	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0000598	HP:0000365	Hearing impairment	3	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2			148
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2	.	HP:0003577 - Congenital onset	148
HP:0000598	HP:0000365	Hearing impairment	3	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040282 - Frequent		5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0000598	HP:0000365	Hearing impairment	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040284 - Very rare		13
HP:0000598	HP:0000365	Hearing impairment	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	HP:0040283 - Occasional		13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0000598	HP:0000365	Hearing impairment	3	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent		121
HP:0000598	HP:0000365	Hearing impairment	3	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct			121
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct	.		121
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct			121
HP:0000598	HP:0000365	Hearing impairment	3	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0000598	HP:0000365	Hearing impairment	3	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		121
HP:0000598	HP:0001751	Vestibular dysfunction	3	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.		121
HP:0000598	HP:0001751	Vestibular dysfunction	3	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0000598	HP:0000365	Hearing impairment	3	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.		121
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0000598	HP:0000365	Hearing impairment	3	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		127
HP:0000598	HP:0000365	Hearing impairment	3	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		127
HP:0000598	HP:0000365	Hearing impairment	3	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		42
HP:0000598	HP:0000365	Hearing impairment	3	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0000598	HP:0000360	Tinnitus	3	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040283 - Occasional		128
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0000598	HP:0000365	Hearing impairment	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040284 - Very rare		7
HP:0000598	HP:0000365	Hearing impairment	3	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0000598	HP:0000365	Hearing impairment	3	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0000598	HP:0000365	Hearing impairment	3	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1			730
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1			730
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0000598	HP:0000360	Tinnitus	3	KCNQ4 CL E G H	9132	6298	OMIM:600101	Deafness, autosomal dominant nonsyndromic sensorineural 2	.		76
HP:0000598	HP:0000365	Hearing impairment	3	KCNQ4 CL E G H	9132	6298	OMIM:600101	Deafness, autosomal dominant nonsyndromic sensorineural 2	.		76
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0000598	HP:0000365	Hearing impairment	3	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0000598	HP:0000365	Hearing impairment	3	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		53
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000598	HP:0000365	Hearing impairment	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000598	HP:0000388	Otitis media	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000598	HP:0000365	Hearing impairment	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0000388	Otitis media	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.		9
HP:0000598	HP:0000365	Hearing impairment	3	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000598	HP:0000365	Hearing impairment	3	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0000598	HP:0000365	Hearing impairment	3	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0000598	HP:0000365	Hearing impairment	3	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000598	HP:0000388	Otitis media	3	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0000598	HP:0000360	Tinnitus	3	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000598	HP:0000365	Hearing impairment	3	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000598	HP:0001751	Vestibular dysfunction	3	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000598	HP:0000365	Hearing impairment	3	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040284 - Very rare		93
HP:0000598	HP:0000365	Hearing impairment	3	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000598	HP:0000365	Hearing impairment	3	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional		167
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0000598	HP:0000365	Hearing impairment	3	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0000598	HP:0000365	Hearing impairment	3	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0000365	Hearing impairment	3	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0000598	HP:0000365	Hearing impairment	3	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		327
HP:0000598	HP:0000365	Hearing impairment	3	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000598	HP:0000365	Hearing impairment	3	KITLG CL E G H	4254	6343	OMIM:616697	DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KITLG CL E G H	4254	6343	OMIM:616697	DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69			9
HP:0000598	HP:0000365	Hearing impairment	3	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		9
HP:0000598	HP:0000365	Hearing impairment	3	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0000598	HP:0000365	Hearing impairment	3	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000598	HP:0000365	Hearing impairment	3	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0001751	Vestibular dysfunction	3	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000598	HP:0000365	Hearing impairment	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0000598	HP:0000365	Hearing impairment	3	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		660
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000598	HP:0000365	Hearing impairment	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000598	HP:0000388	Otitis media	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000598	HP:0000388	Otitis media	3	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0000598	HP:0001963	Abnormal speech discrimination	3	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040282 - Frequent		13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0000598	HP:0000365	Hearing impairment	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		196
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000598	HP:0000365	Hearing impairment	3	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent		196
HP:0000598	HP:0000365	Hearing impairment	3	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D			173
HP:0000598	HP:0000365	Hearing impairment	3	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0000598	HP:0000365	Hearing impairment	3	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.		34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000365	Hearing impairment	3	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy			279
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		279
HP:0000598	HP:0000365	Hearing impairment	3	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5	HP:0040283 - Occasional		71
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0000598	HP:0000365	Hearing impairment	3	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0000598	HP:0000388	Otitis media	3	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0000598	HP:0000365	Hearing impairment	3	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		70
HP:0000598	HP:0000365	Hearing impairment	3	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy			286
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		286
HP:0000598	HP:0000365	Hearing impairment	3	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0000598	HP:0000365	Hearing impairment	3	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0000365	Hearing impairment	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000388	Otitis media	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0000598	HP:0000365	Hearing impairment	3	LHFPL5 CL E G H	222662	21253	OMIM:610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67			93
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LHFPL5 CL E G H	222662	21253	OMIM:610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67			93
HP:0000598	HP:0000365	Hearing impairment	3	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism			51
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism	.		51
HP:0000598	HP:0000365	Hearing impairment	3	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		51
HP:0000598	HP:0000365	Hearing impairment	3	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent		51
HP:0000598	HP:0000365	Hearing impairment	3	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		43
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0000598	HP:0000388	Otitis media	3	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0000598	HP:0000365	Hearing impairment	3	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000598	HP:0000365	Hearing impairment	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0000598	HP:0000388	Otitis media	3	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0000598	HP:0000365	Hearing impairment	3	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000598	HP:0000365	Hearing impairment	3	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy			645
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		645
HP:0000598	HP:0000365	Hearing impairment	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0000365	Hearing impairment	3	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional		645
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0000598	HP:0000365	Hearing impairment	3	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040284 - Very rare		44
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000598	HP:0000365	Hearing impairment	3	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040282 - Frequent		11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0000598	HP:0000365	Hearing impairment	3	LMX1A CL E G H	4009	6653	OMIM:601412	Deafness, autosomal dominant nonsyndromic sensorineural 7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional		165
HP:0000598	HP:0000365	Hearing impairment	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0000598	HP:0000365	Hearing impairment	3	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0000365	Hearing impairment	3	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040282 - Frequent		8
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0000365	Hearing impairment	3	LOXHD1 CL E G H	125336	26521	OMIM:613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77			278
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LOXHD1 CL E G H	125336	26521	OMIM:613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77			278
HP:0000598	HP:0000365	Hearing impairment	3	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		4
HP:0000598	HP:0000365	Hearing impairment	3	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		62
HP:0000598	HP:0000365	Hearing impairment	3	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000598	HP:0000388	Otitis media	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0000598	HP:0000365	Hearing impairment	3	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000598	HP:0000365	Hearing impairment	3	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0000365	Hearing impairment	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent		289
HP:0000598	HP:0000365	Hearing impairment	3	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		124
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0000598	HP:0000365	Hearing impairment	3	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040282 - Frequent		124
HP:0000598	HP:0000365	Hearing impairment	3	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.		124
HP:0000598	HP:0000365	Hearing impairment	3	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040283 - Occasional		125
HP:0000598	HP:0000365	Hearing impairment	3	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0000598	HP:0000365	Hearing impairment	3	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata			125
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040282 - Frequent		125
HP:0000598	HP:0000365	Hearing impairment	3	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal			125
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal	.		125
HP:0000598	HP:0000365	Hearing impairment	3	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0000598	HP:0000365	Hearing impairment	3	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040283 - Occasional		125
HP:0000598	HP:0000365	Hearing impairment	3	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000598	HP:0000388	Otitis media	3	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0000598	HP:0000365	Hearing impairment	3	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0000598	HP:0000388	Otitis media	3	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0000598	HP:0000365	Hearing impairment	3	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63			78
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63			78
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0000598	HP:0000365	Hearing impairment	3	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000598	HP:0000365	Hearing impairment	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000365	Hearing impairment	3	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0000598	HP:0000365	Hearing impairment	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		43
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0000598	HP:0000377	Abnormal pinna morphology	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000598	HP:0000365	Hearing impairment	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0000598	HP:0000365	Hearing impairment	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000598	HP:0000365	Hearing impairment	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0000365	Hearing impairment	3	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.		21
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000598	HP:0000365	Hearing impairment	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent		63
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000598	HP:0000365	Hearing impairment	3	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness			63
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0000598	HP:0000388	Otitis media	3	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN			17
HP:0000598	HP:0000365	Hearing impairment	3	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000598	HP:0000365	Hearing impairment	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0000598	HP:0000365	Hearing impairment	3	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0000598	HP:0000365	Hearing impairment	3	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0000598	HP:0000388	Otitis media	3	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040281 - Very frequent		136
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0000598	HP:0000365	Hearing impairment	3	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0000365	Hearing impairment	3	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis	HP:0040281 - Very frequent		55
HP:0000598	HP:0000365	Hearing impairment	3	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.		55
HP:0000598	HP:0000365	Hearing impairment	3	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000598	HP:0000365	Hearing impairment	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0000598	HP:0000365	Hearing impairment	3	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly	.		2
HP:0000598	HP:0000365	Hearing impairment	3	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000365	Hearing impairment	3	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000388	Otitis media	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000365	Hearing impairment	3	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent		11
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000598	HP:0000365	Hearing impairment	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0000598	HP:0000365	Hearing impairment	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000598	HP:0000388	Otitis media	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000598	HP:0000365	Hearing impairment	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0000365	Hearing impairment	3	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25			25
HP:0000598	HP:0000365	Hearing impairment	3	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive	.		25
HP:0000598	HP:0000365	Hearing impairment	3	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49			61
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49			61
HP:0000598	HP:0000365	Hearing impairment	3	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent		21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional		21
HP:0000598	HP:0000365	Hearing impairment	3	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0000598	HP:0000360	Tinnitus	3	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000598	HP:0000365	Hearing impairment	3	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000598	HP:0001751	Vestibular dysfunction	3	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0000598	HP:0000365	Hearing impairment	3	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent		22
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0000598	HP:0000365	Hearing impairment	3	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	HP:0040283 - Occasional		22
HP:0000598	HP:0000365	Hearing impairment	3	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			22
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040282 - Frequent		22
HP:0000598	HP:0000365	Hearing impairment	3	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		13
HP:0000598	HP:0000388	Otitis media	3	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0000598	HP:0000365	Hearing impairment	3	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0000598	HP:0000365	Hearing impairment	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0000598	HP:0000360	Tinnitus	3	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000598	HP:0000365	Hearing impairment	3	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000598	HP:0001751	Vestibular dysfunction	3	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000598	HP:0000365	Hearing impairment	3	MECOM CL E G H	2122	3498	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MECOM CL E G H	2122	3498	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000365	Hearing impairment	3	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0000598	HP:0000365	Hearing impairment	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional		228
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000598	HP:0000365	Hearing impairment	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000598	HP:0001751	Vestibular dysfunction	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0000598	HP:0000365	Hearing impairment	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.		228
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0000365	Hearing impairment	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0000365	Hearing impairment	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0000598	HP:0001751	Vestibular dysfunction	3	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000388	Otitis media	3	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000388	Otitis media	3	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0000365	Hearing impairment	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional		13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0000598	HP:0001751	Vestibular dysfunction	3	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000598	HP:0000365	Hearing impairment	3	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040282 - Frequent		5
HP:0000598	HP:0000365	Hearing impairment	3	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.		5
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0000598	HP:0000365	Hearing impairment	3	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0000365	Hearing impairment	3	MET CL E G H	4233	7029	OMIM:616705	DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97			375
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MET CL E G H	4233	7029	OMIM:616705	DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97			375
HP:0000598	HP:0000365	Hearing impairment	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000388	Otitis media	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000598	HP:0000365	Hearing impairment	3	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040284 - Very rare		203
HP:0000598	HP:0000365	Hearing impairment	3	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	HP:0040283 - Occasional		203
HP:0000598	HP:0000365	Hearing impairment	3	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	HP:0040283 - Occasional		203
HP:0000598	HP:0000360	Tinnitus	3	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0000598	HP:0000365	Hearing impairment	3	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000598	HP:0000365	Hearing impairment	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0000598	HP:0000365	Hearing impairment	3	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0000598	HP:0000365	Hearing impairment	3	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent		33
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0000598	HP:0000388	Otitis media	3	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0000598	HP:0000388	Otitis media	3	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0000598	HP:0000365	Hearing impairment	3	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000598	HP:0000365	Hearing impairment	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000598	HP:0000365	Hearing impairment	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0000598	HP:0000365	Hearing impairment	3	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0000598	HP:0000360	Tinnitus	3	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50	HP:0040283 - Occasional		4
HP:0000598	HP:0000365	Hearing impairment	3	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0000598	HP:0000365	Hearing impairment	3	MITF CL E G H	4286	7105	ORPHA:42665	Tietz syndrome	HP:0040281 - Very frequent		91
HP:0000598	HP:0000365	Hearing impairment	3	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0000598	HP:0000365	Hearing impairment	3	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		91
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		91
HP:0000598	HP:0000365	Hearing impairment	3	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000598	HP:0000365	Hearing impairment	3	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		91
HP:0000598	HP:0000365	Hearing impairment	3	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		69
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0000598	HP:0000365	Hearing impairment	3	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		127
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000598	HP:0000365	Hearing impairment	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000388	Otitis media	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0000388	Otitis media	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0000598	HP:0000365	Hearing impairment	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000365	Hearing impairment	3	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000598	HP:0000388	Otitis media	3	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000598	HP:0000365	Hearing impairment	3	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.		37
HP:0000598	HP:0000365	Hearing impairment	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0000598	HP:0000365	Hearing impairment	3	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0000598	HP:0000365	Hearing impairment	3	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.		8
HP:0000598	HP:0000365	Hearing impairment	3	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0000598	HP:0000365	Hearing impairment	3	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	HP:0040284 - Very rare		29
HP:0000598	HP:0000365	Hearing impairment	3	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0000598	HP:0001751	Vestibular dysfunction	3	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0000598	HP:0000360	Tinnitus	3	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		97
HP:0000598	HP:0001751	Vestibular dysfunction	3	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0000598	HP:0000365	Hearing impairment	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0000598	HP:0000365	Hearing impairment	3	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040282 - Frequent		134
HP:0000598	HP:0000365	Hearing impairment	3	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J	.		134
HP:0000598	HP:0000365	Hearing impairment	3	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0000598	HP:0000365	Hearing impairment	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000365	Hearing impairment	3	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0000598	HP:0000365	Hearing impairment	3	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36	.
HP:0000598	HP:0000365	Hearing impairment	3	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		25
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0000598	HP:0000365	Hearing impairment	3	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0000598	HP:0000388	Otitis media	3	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000598	HP:0000365	Hearing impairment	3	MSRB3 CL E G H	253827	27375	OMIM:613718	Deafness, autosomal recessive 74	.		16
HP:0000598	HP:0000365	Hearing impairment	3	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0000598	HP:0000365	Hearing impairment	3	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0000598	HP:0000388	Otitis media	3	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0000598	HP:0000365	Hearing impairment	3	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0000598	HP:0000388	Otitis media	3	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0000598	HP:0040115	Abnormal Eustachian tube morphology	3	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		12
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0000598	HP:0000365	Hearing impairment	3	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		29
HP:0000598	HP:0000365	Hearing impairment	3	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.		5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0000598	HP:0000365	Hearing impairment	3	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional		88
HP:0000598	HP:0000365	Hearing impairment	3	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000598	HP:0000365	Hearing impairment	3	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0000598	HP:0001751	Vestibular dysfunction	3	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0000598	HP:0000365	Hearing impairment	3	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy			1143
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		1143
HP:0000598	HP:0000365	Hearing impairment	3	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0000598	HP:0000365	Hearing impairment	3	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional		35
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0000598	HP:0000365	Hearing impairment	3	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0000598	HP:0001751	Vestibular dysfunction	3	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0000598	HP:0000365	Hearing impairment	3	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0000598	HP:0000365	Hearing impairment	3	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4			227
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4			227
HP:0000598	HP:0000365	Hearing impairment	3	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0000598	HP:0000365	Hearing impairment	3	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome			227
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome			227
HP:0000598	HP:0000365	Hearing impairment	3	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0000598	HP:0000365	Hearing impairment	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0000598	HP:0000365	Hearing impairment	3	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	HP:0040284 - Very rare		166
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0000598	HP:0000365	Hearing impairment	3	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		166
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome			166
HP:0000598	HP:0000365	Hearing impairment	3	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy			452
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		452
HP:0000598	HP:0000365	Hearing impairment	3	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy			1269
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		1269
HP:0000598	HP:0000365	Hearing impairment	3	MYH9 CL E G H	4627	7579	OMIM:603622	Deafness, autosomal dominant nonsyndromic sensorineural 17			297
HP:0000598	HP:0000365	Hearing impairment	3	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss			297
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	HP:0040284 - Very rare		297
HP:0000598	HP:0000365	Hearing impairment	3	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease			297
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent		297
HP:0000598	HP:0001751	Vestibular dysfunction	3	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0000598	HP:0000365	Hearing impairment	3	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000598	HP:0000365	Hearing impairment	3	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3			387
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3			387
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0000598	HP:0000365	Hearing impairment	3	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30			168
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30			168
HP:0000598	HP:0000365	Hearing impairment	3	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22			179
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22	.		179
HP:0000598	HP:0000365	Hearing impairment	3	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37			179
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37	.		179
HP:0000598	HP:0001751	Vestibular dysfunction	3	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37			179
HP:0000598	HP:0000365	Hearing impairment	3	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11			516
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11			516
HP:0000598	HP:0001751	Vestibular dysfunction	3	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11	.		516
HP:0000598	HP:0000365	Hearing impairment	3	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2			516
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2	.		516
HP:0000598	HP:0001751	Vestibular dysfunction	3	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2	.		516
HP:0000598	HP:0000365	Hearing impairment	3	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000598	HP:0001751	Vestibular dysfunction	3	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000598	HP:0000365	Hearing impairment	3	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000598	HP:0000365	Hearing impairment	3	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.		516
HP:0000598	HP:0001751	Vestibular dysfunction	3	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000598	HP:0000365	Hearing impairment	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000598	HP:0000365	Hearing impairment	3	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy			217
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		217
HP:0000598	HP:0000377	Abnormal pinna morphology	3	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0000598	HP:0000365	Hearing impairment	3	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		23
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000598	HP:0000365	Hearing impairment	3	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0000598	HP:0000388	Otitis media	3	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0000598	HP:0000388	Otitis media	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000598	HP:0001751	Vestibular dysfunction	3	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0000598	HP:0000365	Hearing impairment	3	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040281 - Very frequent		47
HP:0000598	HP:0001751	Vestibular dysfunction	3	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0000598	HP:0000360	Tinnitus	3	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040282 - Frequent		47
HP:0000598	HP:0000365	Hearing impairment	3	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040282 - Frequent		47
HP:0000598	HP:0001751	Vestibular dysfunction	3	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0000598	HP:0000365	Hearing impairment	3	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.		47
HP:0000598	HP:0001751	Vestibular dysfunction	3	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0000598	HP:0000365	Hearing impairment	3	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0000598	HP:0000365	Hearing impairment	3	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		48
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome			48
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000598	HP:0000365	Hearing impairment	3	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0000598	HP:0000365	Hearing impairment	3	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94			34
HP:0000598	HP:0001751	Vestibular dysfunction	3	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94	HP:0040284 - Very rare		34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0000598	HP:0000365	Hearing impairment	3	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	HP:0040284 - Very rare
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0000598	HP:0000388	Otitis media	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0000598	HP:0000388	Otitis media	3	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		13
HP:0000598	HP:0000365	Hearing impairment	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0000388	Otitis media	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0000598	HP:0000388	Otitis media	3	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		67
HP:0000598	HP:0000388	Otitis media	3	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		37
HP:0000598	HP:0000388	Otitis media	3	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0000598	HP:0000365	Hearing impairment	3	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND5 CL E G H	4540	7461	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0000598	HP:0000365	Hearing impairment	3	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000598	HP:0000365	Hearing impairment	3	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000598	HP:0000365	Hearing impairment	3	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.		39
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000598	HP:0000365	Hearing impairment	3	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040282 - Frequent		82
HP:0000598	HP:0000365	Hearing impairment	3	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.		82
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0000598	HP:0000365	Hearing impairment	3	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0000598	HP:0000365	Hearing impairment	3	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		91
HP:0000598	HP:0000365	Hearing impairment	3	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0000598	HP:0000365	Hearing impairment	3	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		7
HP:0000598	HP:0000365	Hearing impairment	3	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		3
HP:0000598	HP:0000365	Hearing impairment	3	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.		3
HP:0000598	HP:0000365	Hearing impairment	3	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		19
HP:0000598	HP:0000365	Hearing impairment	3	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		4
HP:0000598	HP:0000365	Hearing impairment	3	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		27
HP:0000598	HP:0000365	Hearing impairment	3	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.		27
HP:0000598	HP:0000365	Hearing impairment	3	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0000598	HP:0000365	Hearing impairment	3	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0000598	HP:0000365	Hearing impairment	3	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		26
HP:0000598	HP:0000365	Hearing impairment	3	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0000598	HP:0000365	Hearing impairment	3	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		31
HP:0000598	HP:0000365	Hearing impairment	3	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0000598	HP:0000365	Hearing impairment	3	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.		50
HP:0000598	HP:0000365	Hearing impairment	3	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0000598	HP:0000365	Hearing impairment	3	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		34
HP:0000598	HP:0000365	Hearing impairment	3	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		39
HP:0000598	HP:0000365	Hearing impairment	3	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0000598	HP:0000365	Hearing impairment	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000598	HP:0000365	Hearing impairment	3	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.		3
HP:0000598	HP:0000365	Hearing impairment	3	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0000598	HP:0000365	Hearing impairment	3	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		81
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		65
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		65
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		22
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		27
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		38
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0000598	HP:0000365	Hearing impairment	3	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		42
HP:0000598	HP:0000365	Hearing impairment	3	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0000598	HP:0000365	Hearing impairment	3	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		74
HP:0000598	HP:0000365	Hearing impairment	3	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000598	HP:0000365	Hearing impairment	3	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0000598	HP:0000365	Hearing impairment	3	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0000598	HP:0000388	Otitis media	3	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0000598	HP:0000365	Hearing impairment	3	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0000598	HP:0000388	Otitis media	3	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0000598	HP:0040115	Abnormal Eustachian tube morphology	3	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0000598	HP:0000365	Hearing impairment	3	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	HP:0040283 - Occasional		30
HP:0000598	HP:0000365	Hearing impairment	3	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional		118
HP:0000598	HP:0000365	Hearing impairment	3	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	HP:0040284 - Very rare		118
HP:0000598	HP:0000365	Hearing impairment	3	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0000598	HP:0000388	Otitis media	3	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0000598	HP:0000365	Hearing impairment	3	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000365	Hearing impairment	3	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0000598	HP:0000365	Hearing impairment	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000388	Otitis media	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000365	Hearing impairment	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent		43
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000598	HP:0000365	Hearing impairment	3	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040282 - Frequent		43
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000598	HP:0000365	Hearing impairment	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0000598	HP:0000365	Hearing impairment	3	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000598	HP:0000365	Hearing impairment	3	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy			167
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		167
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000598	HP:0000360	Tinnitus	3	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000598	HP:0000365	Hearing impairment	3	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000598	HP:0001751	Vestibular dysfunction	3	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0000598	HP:0000360	Tinnitus	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0000598	HP:0000360	Tinnitus	3	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0000598	HP:0000365	Hearing impairment	3	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040282 - Frequent		220
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000598	HP:0000360	Tinnitus	3	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0000365	Hearing impairment	3	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0001751	Vestibular dysfunction	3	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000598	HP:0000365	Hearing impairment	3	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0000598	HP:0000365	Hearing impairment	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0000388	Otitis media	3	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		7
HP:0000598	HP:0000388	Otitis media	3	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		11
HP:0000598	HP:0000388	Otitis media	3	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0000598	HP:0000388	Otitis media	3	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0000598	HP:0000365	Hearing impairment	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome			88
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		117
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		60
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0000598	HP:0000388	Otitis media	3	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0000598	HP:0000365	Hearing impairment	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		494
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0000365	Hearing impairment	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0000388	Otitis media	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000598	HP:0000365	Hearing impairment	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0000598	HP:0001751	Vestibular dysfunction	3	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect			90
HP:0000598	HP:0000365	Hearing impairment	3	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0000598	HP:0000365	Hearing impairment	3	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent		217
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent		217
HP:0000598	HP:0000365	Hearing impairment	3	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0000598	HP:0000365	Hearing impairment	3	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional		217
HP:0000598	HP:0000365	Hearing impairment	3	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0000598	HP:0000365	Hearing impairment	3	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0000598	HP:0000388	Otitis media	3	NME5 CL E G H	8382	7853	OMIM:620032
HP:0000598	HP:0000365	Hearing impairment	3	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		50
HP:0000598	HP:0000388	Otitis media	3	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0000598	HP:0000365	Hearing impairment	3	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		15
HP:0000598	HP:0000365	Hearing impairment	3	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000598	HP:0000365	Hearing impairment	3	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000598	HP:0000365	Hearing impairment	3	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000598	HP:0000365	Hearing impairment	3	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0000598	HP:0000365	Hearing impairment	3	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000598	HP:0000365	Hearing impairment	3	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0000598	HP:0000365	Hearing impairment	3	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome			22
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome			22
HP:0000598	HP:0000365	Hearing impairment	3	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000598	HP:0000365	Hearing impairment	3	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040282 - Frequent		22
HP:0000598	HP:0000365	Hearing impairment	3	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0000598	HP:0000365	Hearing impairment	3	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000598	HP:0000365	Hearing impairment	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0000598	HP:0000365	Hearing impairment	3	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000598	HP:0000365	Hearing impairment	3	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040281 - Very frequent		9
HP:0000598	HP:0001751	Vestibular dysfunction	3	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0000598	HP:0000365	Hearing impairment	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000365	Hearing impairment	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent		138
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000365	Hearing impairment	3	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0000365	Hearing impairment	3	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000598	HP:0000365	Hearing impairment	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000598	HP:0000365	Hearing impairment	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional		144
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0000365	Hearing impairment	3	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		85
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0000598	HP:0001751	Vestibular dysfunction	3	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0000598	HP:0000365	Hearing impairment	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0000598	HP:0001751	Vestibular dysfunction	3	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0000598	HP:0000365	Hearing impairment	3	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000598	HP:0000365	Hearing impairment	3	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000598	HP:0000365	Hearing impairment	3	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		27
HP:0000598	HP:0000365	Hearing impairment	3	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		38
HP:0000598	HP:0000365	Hearing impairment	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		102
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0000365	Hearing impairment	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6	.		102
HP:0000598	HP:0000365	Hearing impairment	3	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000598	HP:0000365	Hearing impairment	3	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000598	HP:0000365	Hearing impairment	3	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		4
HP:0000598	HP:0000365	Hearing impairment	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0000598	HP:0000388	Otitis media	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000598	HP:0000365	Hearing impairment	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0000388	Otitis media	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000598	HP:0000365	Hearing impairment	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000365	Hearing impairment	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000388	Otitis media	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0000598	HP:0000365	Hearing impairment	3	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	HP:0040283 - Occasional		34
HP:0000598	HP:0000365	Hearing impairment	3	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000598	HP:0000365	Hearing impairment	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000598	HP:0000365	Hearing impairment	3	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0000598	HP:0001751	Vestibular dysfunction	3	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0000598	HP:0000365	Hearing impairment	3	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0000598	HP:0000365	Hearing impairment	3	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.		1
HP:0000598	HP:0000365	Hearing impairment	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000598	HP:0000388	Otitis media	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0000598	HP:0000365	Hearing impairment	3	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040283 - Occasional		94
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000598	HP:0000388	Otitis media	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000598	HP:0000388	Otitis media	3	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0000598	HP:0000365	Hearing impairment	3	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000388	Otitis media	3	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000598	HP:0000365	Hearing impairment	3	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000388	Otitis media	3	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0000598	HP:0000365	Hearing impairment	3	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000365	Hearing impairment	3	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000365	Hearing impairment	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000598	HP:0000365	Hearing impairment	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0000598	HP:0000365	Hearing impairment	3	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0000598	HP:0000365	Hearing impairment	3	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0000598	HP:0000388	Otitis media	3	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0000598	HP:0000365	Hearing impairment	3	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000598	HP:0000365	Hearing impairment	3	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		201
HP:0000598	HP:0000388	Otitis media	3	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0000598	HP:0000365	Hearing impairment	3	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0000598	HP:0000365	Hearing impairment	3	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000598	HP:0000365	Hearing impairment	3	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent		214
HP:0000598	HP:0000365	Hearing impairment	3	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		214
HP:0000598	HP:0000365	Hearing impairment	3	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0000598	HP:0000365	Hearing impairment	3	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000598	HP:0000365	Hearing impairment	3	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000598	HP:0000365	Hearing impairment	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		53
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000598	HP:0000365	Hearing impairment	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0000365	Hearing impairment	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		21
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0000598	HP:0000365	Hearing impairment	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		39
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0000598	HP:0000360	Tinnitus	3	OSBPL2 CL E G H	9885	15761	OMIM:616340	DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67			2
HP:0000598	HP:0000365	Hearing impairment	3	OSBPL2 CL E G H	9885	15761	OMIM:616340	DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	OSBPL2 CL E G H	9885	15761	OMIM:616340	DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0000598	HP:0000365	Hearing impairment	3	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0000598	HP:0000365	Hearing impairment	3	OTOA CL E G H	146183	16378	OMIM:607039	Deafness, autosomal recessive 22			58
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	OTOA CL E G H	146183	16378	OMIM:607039	Deafness, autosomal recessive 22	.		58
HP:0000598	HP:0000365	Hearing impairment	3	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9			383
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9			383
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9			383
HP:0000598	HP:0000365	Hearing impairment	3	OTOG CL E G H	340990	8516	OMIM:614945	Deafness, autosomal recessive 18B	.		165
HP:0000598	HP:0000365	Hearing impairment	3	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B	.		105
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B			105
HP:0000598	HP:0001751	Vestibular dysfunction	3	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B			105
HP:0000598	HP:0000365	Hearing impairment	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000598	HP:0000365	Hearing impairment	3	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000365	Hearing impairment	3	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0000598	HP:0000365	Hearing impairment	3	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		41
HP:0000598	HP:0000360	Tinnitus	3	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41	.		23
HP:0000598	HP:0000365	Hearing impairment	3	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41	.		23
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41			23
HP:0000598	HP:0000365	Hearing impairment	3	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000598	HP:0001751	Vestibular dysfunction	3	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000598	HP:0000365	Hearing impairment	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0000598	HP:0000365	Hearing impairment	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0000598	HP:0000365	Hearing impairment	3	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0000598	HP:0000365	Hearing impairment	3	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000365	Hearing impairment	3	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.		39
HP:0000598	HP:0000365	Hearing impairment	3	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040283 - Occasional		39
HP:0000598	HP:0000365	Hearing impairment	3	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0000598	HP:0000365	Hearing impairment	3	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome			59
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent		59
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome	.		59
HP:0000598	HP:0000365	Hearing impairment	3	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent		59
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000598	HP:0000365	Hearing impairment	3	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent		59
HP:0000598	HP:0000365	Hearing impairment	3	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000598	HP:0000365	Hearing impairment	3	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0000598	HP:0000365	Hearing impairment	3	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000598	HP:0000365	Hearing impairment	3	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000598	HP:0000365	Hearing impairment	3	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000365	Hearing impairment	3	PCDH15 CL E G H	65217	14674	OMIM:609533	Deafness, autosomal recessive 23			352
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PCDH15 CL E G H	65217	14674	OMIM:609533	Deafness, autosomal recessive 23	.		352
HP:0000598	HP:0000365	Hearing impairment	3	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000598	HP:0001751	Vestibular dysfunction	3	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000598	HP:0000365	Hearing impairment	3	PCDH15 CL E G H	65217	14674	OMIM:601067	Usher syndrome, type ID	.	HP:0003577 - Congenital onset	352
HP:0000598	HP:0001751	Vestibular dysfunction	3	PCDH15 CL E G H	65217	14674	OMIM:601067	Usher syndrome, type ID	.		352
HP:0000598	HP:0000365	Hearing impairment	3	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF			352
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF			352
HP:0000598	HP:0001751	Vestibular dysfunction	3	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF			352
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000598	HP:0000365	Hearing impairment	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0000365	Hearing impairment	3	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.		6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0000598	HP:0000365	Hearing impairment	3	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent		531
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0000598	HP:0000365	Hearing impairment	3	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		11
HP:0000598	HP:0000388	Otitis media	3	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0000598	HP:0000365	Hearing impairment	3	PDE1C CL E G H	5137	8776	OMIM:618140	Deafness, autosomal dominant 74	.		3
HP:0000598	HP:0000365	Hearing impairment	3	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent		113
HP:0000598	HP:0000365	Hearing impairment	3	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000598	HP:0000365	Hearing impairment	3	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000598	HP:0000365	Hearing impairment	3	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000598	HP:0000365	Hearing impairment	3	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000598	HP:0000365	Hearing impairment	3	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000598	HP:0001751	Vestibular dysfunction	3	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5			9
HP:0000598	HP:0000360	Tinnitus	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0000598	HP:0000365	Hearing impairment	3	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0000598	HP:0000388	Otitis media	3	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0000598	HP:0000365	Hearing impairment	3	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.		28
HP:0000598	HP:0000365	Hearing impairment	3	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		88
HP:0000598	HP:0000365	Hearing impairment	3	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	HP:0040283 - Occasional		4
HP:0000598	HP:0000365	Hearing impairment	3	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040283 - Occasional		4
HP:0000598	HP:0000365	Hearing impairment	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000365	Hearing impairment	3	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		30
HP:0000598	HP:0000365	Hearing impairment	3	PDZD7 CL E G H	79955	26257	OMIM:618003	DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57			40
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PDZD7 CL E G H	79955	26257	OMIM:618003	DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57			40
HP:0000598	HP:0000365	Hearing impairment	3	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000598	HP:0000365	Hearing impairment	3	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA			40
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA			40
HP:0000598	HP:0000365	Hearing impairment	3	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC			40
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC			40
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000598	HP:0000365	Hearing impairment	3	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent		66
HP:0000598	HP:0000365	Hearing impairment	3	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		6
HP:0000598	HP:0000365	Hearing impairment	3	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0000598	HP:0000365	Hearing impairment	3	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1			169
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1	.		169
HP:0000598	HP:0000365	Hearing impairment	3	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		169
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		169
HP:0000598	HP:0000365	Hearing impairment	3	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		169
HP:0000598	HP:0000365	Hearing impairment	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0000598	HP:0000365	Hearing impairment	3	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0000598	HP:0000365	Hearing impairment	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		169
HP:0000598	HP:0000365	Hearing impairment	3	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		75
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		75
HP:0000598	HP:0000365	Hearing impairment	3	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		75
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0000598	HP:0000365	Hearing impairment	3	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.		75
HP:0000598	HP:0000365	Hearing impairment	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		75
HP:0000598	HP:0000365	Hearing impairment	3	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		4
HP:0000598	HP:0000365	Hearing impairment	3	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		4
HP:0000598	HP:0000365	Hearing impairment	3	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0000598	HP:0000365	Hearing impairment	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0000365	Hearing impairment	3	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		65
HP:0000598	HP:0000365	Hearing impairment	3	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		65
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0000598	HP:0000365	Hearing impairment	3	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0000598	HP:0000365	Hearing impairment	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		65
HP:0000598	HP:0000365	Hearing impairment	3	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		66
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		66
HP:0000598	HP:0000365	Hearing impairment	3	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		66
HP:0000598	HP:0000365	Hearing impairment	3	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B	.		66
HP:0000598	HP:0000365	Hearing impairment	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		66
HP:0000598	HP:0000365	Hearing impairment	3	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		46
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		46
HP:0000598	HP:0000365	Hearing impairment	3	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		46
HP:0000598	HP:0000365	Hearing impairment	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		46
HP:0000598	HP:0000365	Hearing impairment	3	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		59
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		59
HP:0000598	HP:0000365	Hearing impairment	3	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		59
HP:0000598	HP:0000365	Hearing impairment	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		59
HP:0000598	HP:0000365	Hearing impairment	3	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		62
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		62
HP:0000598	HP:0000365	Hearing impairment	3	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		62
HP:0000598	HP:0000365	Hearing impairment	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		62
HP:0000598	HP:0000365	Hearing impairment	3	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		82
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		82
HP:0000598	HP:0000365	Hearing impairment	3	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		82
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0000598	HP:0000365	Hearing impairment	3	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0000598	HP:0000365	Hearing impairment	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		82
HP:0000598	HP:0000365	Hearing impairment	3	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		106
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		106
HP:0000598	HP:0000365	Hearing impairment	3	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		106
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0000598	HP:0000365	Hearing impairment	3	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B			106
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B	.		106
HP:0000598	HP:0000365	Hearing impairment	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		106
HP:0000598	HP:0000365	Hearing impairment	3	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		47
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		47
HP:0000598	HP:0000365	Hearing impairment	3	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		47
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B			47
HP:0000598	HP:0000365	Hearing impairment	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		47
HP:0000598	HP:0000365	Hearing impairment	3	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		99
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		99
HP:0000598	HP:0000365	Hearing impairment	3	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		99
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B			99
HP:0000598	HP:0000365	Hearing impairment	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		99
HP:0000598	HP:0000365	Hearing impairment	3	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent		98
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000598	HP:0000365	Hearing impairment	3	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0000598	HP:0000365	Hearing impairment	3	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0000598	HP:0000365	Hearing impairment	3	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		98
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		98
HP:0000598	HP:0000365	Hearing impairment	3	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		98
HP:0000598	HP:0000365	Hearing impairment	3	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0000598	HP:0000365	Hearing impairment	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		98
HP:0000598	HP:0000365	Hearing impairment	3	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B			72
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B	.		72
HP:0000598	HP:0000365	Hearing impairment	3	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0000598	HP:0000365	Hearing impairment	3	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.		72
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040281 - Very frequent		72
HP:0000598	HP:0000365	Hearing impairment	3	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000598	HP:0000365	Hearing impairment	3	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.		8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000598	HP:0000388	Otitis media	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0000598	HP:0000365	Hearing impairment	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0000598	HP:0000365	Hearing impairment	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0000598	HP:0000388	Otitis media	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0000598	HP:0000365	Hearing impairment	3	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040284 - Very rare		217
HP:0000598	HP:0000365	Hearing impairment	3	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040283 - Occasional		29
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000598	HP:0000388	Otitis media	3	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0000598	HP:0000365	Hearing impairment	3	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		86
HP:0000598	HP:0000365	Hearing impairment	3	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0000598	HP:0000365	Hearing impairment	3	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040281 - Very frequent		45
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.		45
HP:0000598	HP:0000365	Hearing impairment	3	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0000598	HP:0000365	Hearing impairment	3	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0000598	HP:0000365	Hearing impairment	3	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome	HP:0040283 - Occasional		77
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0000598	HP:0000365	Hearing impairment	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0000598	HP:0000365	Hearing impairment	3	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0000598	HP:0000365	Hearing impairment	3	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0000365	Hearing impairment	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0000388	Otitis media	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000598	HP:0000365	Hearing impairment	3	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent		36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000598	HP:0000365	Hearing impairment	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000598	HP:0000365	Hearing impairment	3	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2	.		84
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000598	HP:0000365	Hearing impairment	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000598	HP:0000365	Hearing impairment	3	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent		12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000598	HP:0000365	Hearing impairment	3	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.		57
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0000598	HP:0000365	Hearing impairment	3	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0000598	HP:0000365	Hearing impairment	3	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		162
HP:0000598	HP:0000365	Hearing impairment	3	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0000598	HP:0000360	Tinnitus	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0000598	HP:0000388	Otitis media	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0000598	HP:0000388	Otitis media	3	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0000598	HP:0000365	Hearing impairment	3	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0000598	HP:0000365	Hearing impairment	3	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent		43
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0000598	HP:0000365	Hearing impairment	3	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0000598	HP:0000365	Hearing impairment	3	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040282 - Frequent		51
HP:0000598	HP:0000365	Hearing impairment	3	PJVK CL E G H	494513	29502	OMIM:610220	Deafness, autosomal recessive 59			45
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PJVK CL E G H	494513	29502	OMIM:610220	Deafness, autosomal recessive 59	.		45
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0000598	HP:0000365	Hearing impairment	3	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000598	HP:0000365	Hearing impairment	3	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040283 - Occasional		3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000598	HP:0000365	Hearing impairment	3	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		82
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82
HP:0000598	HP:0000388	Otitis media	3	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3			21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000598	HP:0000365	Hearing impairment	3	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0000598	HP:0000365	Hearing impairment	3	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		57
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040284 - Very rare		105
HP:0000598	HP:0000365	Hearing impairment	3	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0000598	HP:0000365	Hearing impairment	3	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	HP:0040283 - Occasional		60
HP:0000598	HP:0000365	Hearing impairment	3	PLS1 CL E G H	5357	9090	OMIM:618787	DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PLS1 CL E G H	5357	9090	OMIM:618787	DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000598	HP:0000365	Hearing impairment	3	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0000598	HP:0001751	Vestibular dysfunction	3	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0000598	HP:0000365	Hearing impairment	3	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness			79
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.		79
HP:0000598	HP:0000360	Tinnitus	3	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional		79
HP:0000598	HP:0000365	Hearing impairment	3	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040281 - Very frequent		79
HP:0000598	HP:0000365	Hearing impairment	3	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0000598	HP:0000365	Hearing impairment	3	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	HP:0040284 - Very rare
HP:0000598	HP:0000388	Otitis media	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.		52
HP:0000598	HP:0000365	Hearing impairment	3	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040284 - Very rare		52
HP:0000598	HP:0000365	Hearing impairment	3	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		47
HP:0000598	HP:0000365	Hearing impairment	3	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040283 - Occasional		65
HP:0000598	HP:0000365	Hearing impairment	3	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0000598	HP:0000365	Hearing impairment	3	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040283 - Occasional		65
HP:0000598	HP:0000365	Hearing impairment	3	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040282 - Frequent		103
HP:0000598	HP:0000365	Hearing impairment	3	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0000598	HP:0000365	Hearing impairment	3	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent		60
HP:0000598	HP:0000365	Hearing impairment	3	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13	.		60
HP:0000598	HP:0000365	Hearing impairment	3	PNPT1 CL E G H	87178	23166	OMIM:614934	DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70			60
HP:0000598	HP:0000365	Hearing impairment	3	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000598	HP:0000365	Hearing impairment	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000598	HP:0000365	Hearing impairment	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0000598	HP:0000365	Hearing impairment	3	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome			1129
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0000598	HP:0000365	Hearing impairment	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0000598	HP:0000365	Hearing impairment	3	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0000598	HP:0000365	Hearing impairment	3	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		464
HP:0000598	HP:0000365	Hearing impairment	3	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	HP:0040283 - Occasional		464
HP:0000598	HP:0000365	Hearing impairment	3	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		464
HP:0000598	HP:0000365	Hearing impairment	3	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0000598	HP:0000365	Hearing impairment	3	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000598	HP:0000365	Hearing impairment	3	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0000598	HP:0001751	Vestibular dysfunction	3	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0000598	HP:0000365	Hearing impairment	3	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0000598	HP:0001751	Vestibular dysfunction	3	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0000598	HP:0000365	Hearing impairment	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0000598	HP:0000365	Hearing impairment	3	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000598	HP:0000365	Hearing impairment	3	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0000365	Hearing impairment	3	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3			38
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3			38
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3			38
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3			38
HP:0000598	HP:0000365	Hearing impairment	3	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0000365	Hearing impairment	3	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0000365	Hearing impairment	3	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000388	Otitis media	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000365	Hearing impairment	3	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000598	HP:0000365	Hearing impairment	3	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000598	HP:0000365	Hearing impairment	3	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0000598	HP:0000365	Hearing impairment	3	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	HP:0040283 - Occasional		18
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0000598	HP:0000365	Hearing impairment	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		76
HP:0000598	HP:0000365	Hearing impairment	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0000598	HP:0000365	Hearing impairment	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0000598	HP:0000365	Hearing impairment	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0000365	Hearing impairment	3	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		36
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000598	HP:0000365	Hearing impairment	3	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0000365	Hearing impairment	3	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040281 - Very frequent		40
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0000377	Abnormal pinna morphology	3	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0000598	HP:0000365	Hearing impairment	3	POU4F3 CL E G H	5459	9220	OMIM:602459	Deafness, autosomal dominant 15	HP:0040280 - Obligate		29
HP:0000598	HP:0000365	Hearing impairment	3	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000598	HP:0000365	Hearing impairment	3	PPIP5K2 CL E G H	23262	29035	OMIM:618422	Deafness, autosomal recessive 100			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PPIP5K2 CL E G H	23262	29035	OMIM:618422	Deafness, autosomal recessive 100			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0000598	HP:0000365	Hearing impairment	3	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional		9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000598	HP:0000365	Hearing impairment	3	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional		2
HP:0000598	HP:0000365	Hearing impairment	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000598	HP:0000365	Hearing impairment	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0000598	HP:0000365	Hearing impairment	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0000598	HP:0000365	Hearing impairment	3	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000598	HP:0000365	Hearing impairment	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0000365	Hearing impairment	3	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy			148
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		148
HP:0000598	HP:0000365	Hearing impairment	3	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		58
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000598	HP:0000365	Hearing impairment	3	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	.		58
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0000598	HP:0000365	Hearing impairment	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040284 - Very rare		58
HP:0000598	HP:0000365	Hearing impairment	3	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000598	HP:0000365	Hearing impairment	3	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent		134
HP:0000598	HP:0000365	Hearing impairment	3	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000598	HP:0001751	Vestibular dysfunction	3	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000598	HP:0000388	Otitis media	3	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000598	HP:0000388	Otitis media	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0000598	HP:0000388	Otitis media	3	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		10
HP:0000598	HP:0000365	Hearing impairment	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000365	Hearing impairment	3	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional		42
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000598	HP:0000365	Hearing impairment	3	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000365	Hearing impairment	3	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000365	Hearing impairment	3	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0000598	HP:0000365	Hearing impairment	3	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	HP:0040283 - Occasional		34
HP:0000598	HP:0000365	Hearing impairment	3	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000598	HP:0000365	Hearing impairment	3	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0000365	Hearing impairment	3	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		34
HP:0000598	HP:0000365	Hearing impairment	3	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000598	HP:0000365	Hearing impairment	3	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		54
HP:0000598	HP:0000365	Hearing impairment	3	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0000365	Hearing impairment	3	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0000365	Hearing impairment	3	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000598	HP:0000365	Hearing impairment	3	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000598	HP:0000365	Hearing impairment	3	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000598	HP:0000365	Hearing impairment	3	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000598	HP:0000365	Hearing impairment	3	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000598	HP:0000365	Hearing impairment	3	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000598	HP:0000365	Hearing impairment	3	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0000598	HP:0000365	Hearing impairment	3	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	.		49
HP:0000598	HP:0000365	Hearing impairment	3	PRPS1 CL E G H	5631	9462	OMIM:304500	DEAFNESS, X-LINKED 1; DFNX1			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPS1 CL E G H	5631	9462	OMIM:304500	DEAFNESS, X-LINKED 1; DFNX1			49
HP:0000598	HP:0000365	Hearing impairment	3	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000598	HP:0000365	Hearing impairment	3	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity	.		49
HP:0000598	HP:0000365	Hearing impairment	3	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040282 - Frequent		49
HP:0000598	HP:0000365	Hearing impairment	3	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040281 - Very frequent		49
HP:0000598	HP:0000365	Hearing impairment	3	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0000598	HP:0000365	Hearing impairment	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0000360	Tinnitus	3	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		94
HP:0000598	HP:0000365	Hearing impairment	3	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0000598	HP:0001751	Vestibular dysfunction	3	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0000598	HP:0000365	Hearing impairment	3	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0000598	HP:0000365	Hearing impairment	3	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0000598	HP:0000388	Otitis media	3	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0000598	HP:0000365	Hearing impairment	3	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0000598	HP:0000365	Hearing impairment	3	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0000598	HP:0000365	Hearing impairment	3	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0000598	HP:0000365	Hearing impairment	3	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.		27
HP:0000598	HP:0000365	Hearing impairment	3	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy			241
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		241
HP:0000598	HP:0000365	Hearing impairment	3	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy			59
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		59
HP:0000598	HP:0000365	Hearing impairment	3	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0000598	HP:0000388	Otitis media	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0000598	HP:0000365	Hearing impairment	3	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0000598	HP:0000365	Hearing impairment	3	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000598	HP:0000365	Hearing impairment	3	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		2
HP:0000598	HP:0000365	Hearing impairment	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0000388	Otitis media	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0000365	Hearing impairment	3	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000598	HP:0000365	Hearing impairment	3	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000598	HP:0000365	Hearing impairment	3	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000598	HP:0000365	Hearing impairment	3	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000598	HP:0000365	Hearing impairment	3	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0000598	HP:0000365	Hearing impairment	3	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000598	HP:0000365	Hearing impairment	3	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0000598	HP:0000365	Hearing impairment	3	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		948
HP:0000598	HP:0000365	Hearing impairment	3	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.		22
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0000598	HP:0000365	Hearing impairment	3	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.		58
HP:0000598	HP:0000365	Hearing impairment	3	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0000598	HP:0000365	Hearing impairment	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		291
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0000365	Hearing impairment	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0000598	HP:0000365	Hearing impairment	3	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		291
HP:0000598	HP:0000365	Hearing impairment	3	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000598	HP:0001751	Vestibular dysfunction	3	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0000598	HP:0000365	Hearing impairment	3	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0000598	HP:0000388	Otitis media	3	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		3
HP:0000598	HP:0000365	Hearing impairment	3	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2			1
HP:0000598	HP:0000365	Hearing impairment	3	PTPRQ CL E G H	374462	9679	OMIM:617663	Deafness, autosomal dominant 73	.		7
HP:0000598	HP:0000365	Hearing impairment	3	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84	.		7
HP:0000598	HP:0001751	Vestibular dysfunction	3	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84	.		7
HP:0000598	HP:0000365	Hearing impairment	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040281 - Very frequent		6
HP:0000598	HP:0000365	Hearing impairment	3	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000598	HP:0000365	Hearing impairment	3	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040282 - Frequent		19
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0000598	HP:0000365	Hearing impairment	3	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000365	Hearing impairment	3	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	HP:0040284 - Very rare
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0000598	HP:0000365	Hearing impairment	3	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0000598	HP:0000365	Hearing impairment	3	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0000598	HP:0000377	Abnormal pinna morphology	3	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000598	HP:0000365	Hearing impairment	3	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0000598	HP:0000365	Hearing impairment	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0000598	HP:0000365	Hearing impairment	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent		135
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000598	HP:0000365	Hearing impairment	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.		3
HP:0000598	HP:0000388	Otitis media	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.		3
HP:0000598	HP:0000365	Hearing impairment	3	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000598	HP:0000388	Otitis media	3	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0000598	HP:0000388	Otitis media	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0000598	HP:0000365	Hearing impairment	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		25
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000598	HP:0000365	Hearing impairment	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0000598	HP:0000365	Hearing impairment	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0000598	HP:0000365	Hearing impairment	3	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy			212
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		212
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0000598	HP:0000365	Hearing impairment	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		212
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0000598	HP:0000365	Hearing impairment	3	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		212
HP:0000598	HP:0000388	Otitis media	3	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.		127
HP:0000598	HP:0000388	Otitis media	3	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.		50
HP:0000598	HP:0000365	Hearing impairment	3	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040283 - Occasional		150
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0000598	HP:0000365	Hearing impairment	3	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000598	HP:0000365	Hearing impairment	3	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0000598	HP:0000388	Otitis media	3	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0000598	HP:0001751	Vestibular dysfunction	3	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0000598	HP:0000365	Hearing impairment	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0000598	HP:0000365	Hearing impairment	3	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0000598	HP:0000365	Hearing impairment	3	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy			363
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		363
HP:0000598	HP:0000365	Hearing impairment	3	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0000365	Hearing impairment	3	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0000365	Hearing impairment	3	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000598	HP:0000365	Hearing impairment	3	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		95
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		45
HP:0000598	HP:0000365	Hearing impairment	3	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0000365	Hearing impairment	3	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000598	HP:0000365	Hearing impairment	3	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24			97
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24			97
HP:0000598	HP:0000365	Hearing impairment	3	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000598	HP:0000365	Hearing impairment	3	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0000598	HP:0000365	Hearing impairment	3	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.		445
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000598	HP:0000365	Hearing impairment	3	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000598	HP:0000388	Otitis media	3	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0000598	HP:0000365	Hearing impairment	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0000365	Hearing impairment	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0000365	Hearing impairment	3	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000598	HP:0000365	Hearing impairment	3	REST CL E G H	5978	9966	OMIM:612431	DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27			7
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	REST CL E G H	5978	9966	OMIM:612431	DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27			7
HP:0000598	HP:0000365	Hearing impairment	3	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		572
HP:0000598	HP:0000360	Tinnitus	3	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000598	HP:0000365	Hearing impairment	3	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000598	HP:0001751	Vestibular dysfunction	3	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000598	HP:0000365	Hearing impairment	3	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		572
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0000598	HP:0000360	Tinnitus	3	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0000598	HP:0000365	Hearing impairment	3	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0000598	HP:0001751	Vestibular dysfunction	3	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0000598	HP:0000365	Hearing impairment	3	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000365	Hearing impairment	3	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0000598	HP:0001751	Vestibular dysfunction	3	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0000598	HP:0001751	Vestibular dysfunction	3	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000598	HP:0000365	Hearing impairment	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0000598	HP:0000365	Hearing impairment	3	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040281 - Very frequent		92
HP:0000598	HP:0000365	Hearing impairment	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000598	HP:0000388	Otitis media	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0000598	HP:0000388	Otitis media	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0000598	HP:0000388	Otitis media	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0000598	HP:0000365	Hearing impairment	3	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000598	HP:0000365	Hearing impairment	3	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000598	HP:0000365	Hearing impairment	3	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000598	HP:0000365	Hearing impairment	3	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21	.		1
HP:0000598	HP:0000365	Hearing impairment	3	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0000598	HP:0000365	Hearing impairment	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		39
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0000598	HP:0000365	Hearing impairment	3	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000598	HP:0000365	Hearing impairment	3	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000598	HP:0000365	Hearing impairment	3	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000598	HP:0000365	Hearing impairment	3	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0000598	HP:0000365	Hearing impairment	3	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional		37
HP:0000598	HP:0000365	Hearing impairment	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000365	Hearing impairment	3	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000598	HP:0000365	Hearing impairment	3	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0000598	HP:0000388	Otitis media	3	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000598	HP:0000388	Otitis media	3	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000598	HP:0000365	Hearing impairment	3	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0000598	HP:0000365	Hearing impairment	3	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0000598	HP:0000388	Otitis media	3	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0000598	HP:0000388	Otitis media	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0000598	HP:0000365	Hearing impairment	3	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			90
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040283 - Occasional		90
HP:0000598	HP:0000365	Hearing impairment	3	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000598	HP:0000365	Hearing impairment	3	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108			1
HP:0000598	HP:0000365	Hearing impairment	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		120
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000598	HP:0000388	Otitis media	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000598	HP:0000365	Hearing impairment	3	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000598	HP:0000365	Hearing impairment	3	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000598	HP:0000365	Hearing impairment	3	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000598	HP:0000365	Hearing impairment	3	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0000365	Hearing impairment	3	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		129
HP:0000598	HP:0000365	Hearing impairment	3	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000598	HP:0000365	Hearing impairment	3	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		200
HP:0000598	HP:0000388	Otitis media	3	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0000598	HP:0000365	Hearing impairment	3	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000598	HP:0000365	Hearing impairment	3	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS			200
HP:0000598	HP:0000388	Otitis media	3	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS			200
HP:0000598	HP:0000365	Hearing impairment	3	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		109
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0000598	HP:0000365	Hearing impairment	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000598	HP:0000365	Hearing impairment	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0000365	Hearing impairment	3	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0000365	Hearing impairment	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0000598	HP:0000388	Otitis media	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000365	Hearing impairment	3	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0000365	Hearing impairment	3	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000365	Hearing impairment	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0000365	Hearing impairment	3	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0000598	HP:0000365	Hearing impairment	3	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional		65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0000365	Hearing impairment	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000365	Hearing impairment	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0000365	Hearing impairment	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000388	Otitis media	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000365	Hearing impairment	3	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		125
HP:0000598	HP:0000365	Hearing impairment	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0000598	HP:0000365	Hearing impairment	3	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent		125
HP:0000598	HP:0000365	Hearing impairment	3	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		125
HP:0000598	HP:0000365	Hearing impairment	3	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	HP:0040283 - Occasional		125
HP:0000598	HP:0000365	Hearing impairment	3	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000598	HP:0000365	Hearing impairment	3	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		31
HP:0000598	HP:0000388	Otitis media	3	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0000598	HP:0000388	Otitis media	3	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0000598	HP:0000365	Hearing impairment	3	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		5
HP:0000598	HP:0000388	Otitis media	3	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0000598	HP:0000365	Hearing impairment	3	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		58
HP:0000598	HP:0000388	Otitis media	3	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0000598	HP:0000388	Otitis media	3	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0000598	HP:0000365	Hearing impairment	3	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0000598	HP:0000388	Otitis media	3	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000598	HP:0000365	Hearing impairment	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000598	HP:0000388	Otitis media	3	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0000598	HP:0000388	Otitis media	3	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000598	HP:0000365	Hearing impairment	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0000365	Hearing impairment	3	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0000598	HP:0000365	Hearing impairment	3	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040282 - Frequent		90
HP:0000598	HP:0000388	Otitis media	3	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0000598	HP:0001751	Vestibular dysfunction	3	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0000598	HP:0000377	Abnormal pinna morphology	3	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0000598	HP:0001751	Vestibular dysfunction	3	RYR2 CL E G H	6262	10484	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			1103
HP:0000598	HP:0000365	Hearing impairment	3	S1PR2 CL E G H	9294	3169	OMIM:610419	Deafness, autosomal recessive 68			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	S1PR2 CL E G H	9294	3169	OMIM:610419	Deafness, autosomal recessive 68	.		2
HP:0000598	HP:0000365	Hearing impairment	3	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000598	HP:0000365	Hearing impairment	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent		124
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000598	HP:0000365	Hearing impairment	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0000365	Hearing impairment	3	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent		86
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000598	HP:0000365	Hearing impairment	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent		86
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000598	HP:0000365	Hearing impairment	3	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.		86
HP:0000598	HP:0000365	Hearing impairment	3	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0000598	HP:0000365	Hearing impairment	3	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040281 - Very frequent		86
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0000598	HP:0000365	Hearing impairment	3	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0000598	HP:0000365	Hearing impairment	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		26
HP:0000598	HP:0000365	Hearing impairment	3	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0000598	HP:0000365	Hearing impairment	3	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0000598	HP:0000365	Hearing impairment	3	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent		80
HP:0000598	HP:0000365	Hearing impairment	3	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000598	HP:0000365	Hearing impairment	3	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000365	Hearing impairment	3	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000598	HP:0000365	Hearing impairment	3	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000598	HP:0000360	Tinnitus	3	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		1053
HP:0000598	HP:0000365	Hearing impairment	3	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0000598	HP:0001751	Vestibular dysfunction	3	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000598	HP:0001751	Vestibular dysfunction	3	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect			126
HP:0000598	HP:0001751	Vestibular dysfunction	3	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0000598	HP:0001751	Vestibular dysfunction	3	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0000598	HP:0000365	Hearing impairment	3	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy			1134
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		1134
HP:0000598	HP:0001751	Vestibular dysfunction	3	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect			1134
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000598	HP:0000365	Hearing impairment	3	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		40
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000598	HP:0000365	Hearing impairment	3	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		61
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0000598	HP:0000365	Hearing impairment	3	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.		61
HP:0000598	HP:0000388	Otitis media	3	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0000598	HP:0000365	Hearing impairment	3	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy			304
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		304
HP:0000598	HP:0000360	Tinnitus	3	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000598	HP:0000365	Hearing impairment	3	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000598	HP:0001751	Vestibular dysfunction	3	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000598	HP:0000365	Hearing impairment	3	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		304
HP:0000598	HP:0001751	Vestibular dysfunction	3	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000598	HP:0000360	Tinnitus	3	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000598	HP:0000365	Hearing impairment	3	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000598	HP:0001751	Vestibular dysfunction	3	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000598	HP:0000360	Tinnitus	3	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2			55
HP:0000598	HP:0000360	Tinnitus	3	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		237
HP:0000598	HP:0000365	Hearing impairment	3	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		237
HP:0000598	HP:0000365	Hearing impairment	3	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		237
HP:0000598	HP:0000360	Tinnitus	3	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000598	HP:0000365	Hearing impairment	3	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000598	HP:0001751	Vestibular dysfunction	3	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000598	HP:0000360	Tinnitus	3	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4			237
HP:0000598	HP:0000360	Tinnitus	3	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0000598	HP:0000365	Hearing impairment	3	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0000598	HP:0001751	Vestibular dysfunction	3	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0000598	HP:0000360	Tinnitus	3	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		147
HP:0000598	HP:0000365	Hearing impairment	3	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		147
HP:0000598	HP:0000365	Hearing impairment	3	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		147
HP:0000598	HP:0000360	Tinnitus	3	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000598	HP:0000365	Hearing impairment	3	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000598	HP:0001751	Vestibular dysfunction	3	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000598	HP:0000360	Tinnitus	3	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3			147
HP:0000598	HP:0000360	Tinnitus	3	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		129
HP:0000598	HP:0000365	Hearing impairment	3	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		129
HP:0000598	HP:0000365	Hearing impairment	3	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		129
HP:0000598	HP:0000360	Tinnitus	3	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000598	HP:0000365	Hearing impairment	3	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000598	HP:0001751	Vestibular dysfunction	3	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000598	HP:0000360	Tinnitus	3	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1			129
HP:0000598	HP:0000365	Hearing impairment	3	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1			129
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1			129
HP:0000598	HP:0000360	Tinnitus	3	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0000598	HP:0000365	Hearing impairment	3	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0000598	HP:0001751	Vestibular dysfunction	3	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0000598	HP:0000388	Otitis media	3	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0000598	HP:0000365	Hearing impairment	3	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		60
HP:0000598	HP:0000365	Hearing impairment	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000388	Otitis media	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000365	Hearing impairment	3	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0000598	HP:0000365	Hearing impairment	3	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000598	HP:0000365	Hearing impairment	3	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0000598	HP:0000365	Hearing impairment	3	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		1
HP:0000598	HP:0000365	Hearing impairment	3	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		2
HP:0000598	HP:0000365	Hearing impairment	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0000365	Hearing impairment	3	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0000598	HP:0000365	Hearing impairment	3	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.		47
HP:0000598	HP:0000365	Hearing impairment	3	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0000598	HP:0000365	Hearing impairment	3	SERPINB6 CL E G H	5269	8950	OMIM:613453	Deafness, autosomal recessive 91			29
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0000598	HP:0000365	Hearing impairment	3	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0000598	HP:0000365	Hearing impairment	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0000365	Hearing impairment	3	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0000388	Otitis media	3	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0000598	HP:0000365	Hearing impairment	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0000598	HP:0000388	Otitis media	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000598	HP:0000365	Hearing impairment	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0000365	Hearing impairment	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0000598	HP:0000365	Hearing impairment	3	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040281 - Very frequent		49
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0000365	Hearing impairment	3	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy			223
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		223
HP:0000598	HP:0000365	Hearing impairment	3	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000598	HP:0000365	Hearing impairment	3	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0000598	HP:0000365	Hearing impairment	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0000598	HP:0000365	Hearing impairment	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0000598	HP:0001751	Vestibular dysfunction	3	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0000598	HP:0000388	Otitis media	3	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0000598	HP:0000365	Hearing impairment	3	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional		493
HP:0000598	HP:0000365	Hearing impairment	3	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.		493
HP:0000598	HP:0000365	Hearing impairment	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0000598	HP:0000365	Hearing impairment	3	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000598	HP:0000365	Hearing impairment	3	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000598	HP:0000365	Hearing impairment	3	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000598	HP:0000365	Hearing impairment	3	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0000598	HP:0000365	Hearing impairment	3	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000598	HP:0000365	Hearing impairment	3	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional		74
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0000598	HP:0000365	Hearing impairment	3	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000365	Hearing impairment	3	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040282 - Frequent		9
HP:0000598	HP:0000365	Hearing impairment	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0040262	Glue ear	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0000365	Hearing impairment	3	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040281 - Very frequent		50
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0000365	Hearing impairment	3	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040281 - Very frequent		50
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0000598	HP:0000365	Hearing impairment	3	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0000598	HP:0000365	Hearing impairment	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000365	Hearing impairment	3	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia			2
HP:0000598	HP:0000365	Hearing impairment	3	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000365	Hearing impairment	3	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000365	Hearing impairment	3	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000365	Hearing impairment	3	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000365	Hearing impairment	3	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040281 - Very frequent		10
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0000365	Hearing impairment	3	SIX5 CL E G H	147912	10891	OMIM:610896	Branchiootorenal syndrome 2	.		10
HP:0000598	HP:0000365	Hearing impairment	3	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.		20
HP:0000598	HP:0000365	Hearing impairment	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0000365	Hearing impairment	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.		150
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0000365	Hearing impairment	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000598	HP:0000365	Hearing impairment	3	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0000598	HP:0000365	Hearing impairment	3	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0000598	HP:0000365	Hearing impairment	3	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0000598	HP:0000365	Hearing impairment	3	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0000598	HP:0000365	Hearing impairment	3	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0000360	Tinnitus	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0000598	HP:0001751	Vestibular dysfunction	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0000598	HP:0001751	Vestibular dysfunction	3	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000598	HP:0000365	Hearing impairment	3	SLC17A8 CL E G H	246213	20151	OMIM:605583	DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25			64
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC17A8 CL E G H	246213	20151	OMIM:605583	DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25			64
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0000598	HP:0000365	Hearing impairment	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000598	HP:0000365	Hearing impairment	3	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0000598	HP:0000365	Hearing impairment	3	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040281 - Very frequent		55
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0000598	HP:0000365	Hearing impairment	3	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		110
HP:0000598	HP:0001751	Vestibular dysfunction	3	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6			63
HP:0000598	HP:0001751	Vestibular dysfunction	3	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0000598	HP:0000365	Hearing impairment	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0000598	HP:0000365	Hearing impairment	3	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0000598	HP:0000360	Tinnitus	3	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0000365	Hearing impairment	3	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0001751	Vestibular dysfunction	3	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0000598	HP:0000388	Otitis media	3	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0000598	HP:0000365	Hearing impairment	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000598	HP:0000365	Hearing impairment	3	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000598	HP:0000365	Hearing impairment	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0000598	HP:0000365	Hearing impairment	3	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0000598	HP:0000365	Hearing impairment	3	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040283 - Occasional		166
HP:0000598	HP:0000365	Hearing impairment	3	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0000598	HP:0000365	Hearing impairment	3	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct			274
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct	.		274
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct			274
HP:0000598	HP:0000365	Hearing impairment	3	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0000598	HP:0000365	Hearing impairment	3	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		274
HP:0000598	HP:0001751	Vestibular dysfunction	3	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.		274
HP:0000598	HP:0001751	Vestibular dysfunction	3	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0000598	HP:0000365	Hearing impairment	3	SLC26A5 CL E G H	375611	9359	OMIM:613865	DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC26A5 CL E G H	375611	9359	OMIM:613865	DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61			49
HP:0000598	HP:0000365	Hearing impairment	3	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0000598	HP:0000365	Hearing impairment	3	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0000598	HP:0000365	Hearing impairment	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040282 - Frequent		68
HP:0000598	HP:0000365	Hearing impairment	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0000598	HP:0000365	Hearing impairment	3	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000598	HP:0000365	Hearing impairment	3	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.		48
HP:0000598	HP:0000365	Hearing impairment	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional		27
HP:0000598	HP:0000388	Otitis media	3	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0000598	HP:0000365	Hearing impairment	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0000388	Otitis media	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000598	HP:0000388	Otitis media	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000598	HP:0000360	Tinnitus	3	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.		5
HP:0000598	HP:0000365	Hearing impairment	3	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.		5
HP:0000598	HP:0001751	Vestibular dysfunction	3	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.		5
HP:0000598	HP:0000365	Hearing impairment	3	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000598	HP:0000365	Hearing impairment	3	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	HP:0040283 - Occasional		11
HP:0000598	HP:0000365	Hearing impairment	3	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0000598	HP:0000360	Tinnitus	3	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72	.		1
HP:0000598	HP:0000365	Hearing impairment	3	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72	.		1
HP:0000598	HP:0000365	Hearing impairment	3	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040283 - Occasional		66
HP:0000598	HP:0000365	Hearing impairment	3	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome			66
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome	HP:0040281 - Very frequent		66
HP:0000598	HP:0000365	Hearing impairment	3	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0000598	HP:0000365	Hearing impairment	3	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.		47
HP:0000598	HP:0000365	Hearing impairment	3	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0000598	HP:0000365	Hearing impairment	3	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040284 - Very rare		59
HP:0000598	HP:0000365	Hearing impairment	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0000598	HP:0000365	Hearing impairment	3	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0000598	HP:0000365	Hearing impairment	3	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000598	HP:0000365	Hearing impairment	3	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0000598	HP:0000365	Hearing impairment	3	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia			4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia			4
HP:0000598	HP:0000365	Hearing impairment	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0000598	HP:0000365	Hearing impairment	3	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional		274
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0000598	HP:0000365	Hearing impairment	3	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0000598	HP:0000365	Hearing impairment	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000598	HP:0000365	Hearing impairment	3	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000598	HP:0000388	Otitis media	3	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000598	HP:0000365	Hearing impairment	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0000598	HP:0000365	Hearing impairment	3	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.		617
HP:0000598	HP:0000365	Hearing impairment	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0000598	HP:0000365	Hearing impairment	3	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0000598	HP:0000360	Tinnitus	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0000598	HP:0000365	Hearing impairment	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0000598	HP:0000388	Otitis media	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0000598	HP:0000365	Hearing impairment	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0000598	HP:0000360	Tinnitus	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0000598	HP:0000365	Hearing impairment	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000598	HP:0000365	Hearing impairment	3	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0000598	HP:0000365	Hearing impairment	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		91
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0000365	Hearing impairment	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000598	HP:0000365	Hearing impairment	3	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0000365	Hearing impairment	3	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		174
HP:0000598	HP:0000365	Hearing impairment	3	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2			174
HP:0000598	HP:0000365	Hearing impairment	3	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000598	HP:0000388	Otitis media	3	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.		2
HP:0000598	HP:0000365	Hearing impairment	3	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		22
HP:0000598	HP:0000360	Tinnitus	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000598	HP:0000365	Hearing impairment	3	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4			12
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4	.		12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0000598	HP:0000365	Hearing impairment	3	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		19
HP:0000598	HP:0000365	Hearing impairment	3	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		19
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		19
HP:0000598	HP:0000365	Hearing impairment	3	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D			19
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D			19
HP:0000598	HP:0000365	Hearing impairment	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000598	HP:0000365	Hearing impairment	3	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040283 - Occasional		94
HP:0000598	HP:0000365	Hearing impairment	3	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	.		94
HP:0000598	HP:0000365	Hearing impairment	3	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000598	HP:0000365	Hearing impairment	3	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000365	Hearing impairment	3	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000365	Hearing impairment	3	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0000598	HP:0000388	Otitis media	3	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0000598	HP:0000365	Hearing impairment	3	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent		14
HP:0000598	HP:0000365	Hearing impairment	3	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	HP:0040283 - Occasional		14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0000598	HP:0000365	Hearing impairment	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000598	HP:0000365	Hearing impairment	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		315
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000598	HP:0000365	Hearing impairment	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		30
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0000365	Hearing impairment	3	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0000598	HP:0000365	Hearing impairment	3	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.		26
HP:0000598	HP:0000365	Hearing impairment	3	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata			26
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040282 - Frequent		26
HP:0000598	HP:0000365	Hearing impairment	3	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040282 - Frequent		26
HP:0000598	HP:0000365	Hearing impairment	3	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0000598	HP:0000365	Hearing impairment	3	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0000598	HP:0000365	Hearing impairment	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000598	HP:0000365	Hearing impairment	3	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent		61
HP:0000598	HP:0000365	Hearing impairment	3	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		61
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		61
HP:0000598	HP:0000365	Hearing impairment	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000598	HP:0000365	Hearing impairment	3	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.		61
HP:0000598	HP:0000365	Hearing impairment	3	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		61
HP:0000598	HP:0000365	Hearing impairment	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0000598	HP:0000365	Hearing impairment	3	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040282 - Frequent		33
HP:0000598	HP:0000365	Hearing impairment	3	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.		33
HP:0000598	HP:0000365	Hearing impairment	3	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		33
HP:0000598	HP:0000365	Hearing impairment	3	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		24
HP:0000598	HP:0000365	Hearing impairment	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0000598	HP:0000365	Hearing impairment	3	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0001751	Vestibular dysfunction	3	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0000365	Hearing impairment	3	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040283 - Occasional		109
HP:0000598	HP:0000365	Hearing impairment	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000598	HP:0000365	Hearing impairment	3	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0000598	HP:0000388	Otitis media	3	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0000598	HP:0000365	Hearing impairment	3	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		45
HP:0000598	HP:0000388	Otitis media	3	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0000598	HP:0000365	Hearing impairment	3	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0000598	HP:0000365	Hearing impairment	3	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040281 - Very frequent		19
HP:0000598	HP:0000365	Hearing impairment	3	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0000598	HP:0000365	Hearing impairment	3	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		48
HP:0000598	HP:0000365	Hearing impairment	3	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0000598	HP:0000365	Hearing impairment	3	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		15
HP:0000598	HP:0000388	Otitis media	3	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0000598	HP:0000365	Hearing impairment	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0000365	Hearing impairment	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0000365	Hearing impairment	3	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0000598	HP:0000365	Hearing impairment	3	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies			6
HP:0000598	HP:0000365	Hearing impairment	3	SPNS2 CL E G H	124976	26992	OMIM:618457	Deafness, autosomal recessive 115
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SPNS2 CL E G H	124976	26992	OMIM:618457	Deafness, autosomal recessive 115	.
HP:0000598	HP:0000365	Hearing impairment	3	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0000365	Hearing impairment	3	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0000598	HP:0000365	Hearing impairment	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000598	HP:0000365	Hearing impairment	3	SPRY4 CL E G H	81848	15533	OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia	HP:0040283 - Occasional		5
HP:0000598	HP:0000365	Hearing impairment	3	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000365	Hearing impairment	3	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0000598	HP:0000365	Hearing impairment	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0000388	Otitis media	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0000365	Hearing impairment	3	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000598	HP:0000365	Hearing impairment	3	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional		54
HP:0000598	HP:0000365	Hearing impairment	3	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.		54
HP:0000598	HP:0000365	Hearing impairment	3	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional		149
HP:0000598	HP:0000365	Hearing impairment	3	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0000598	HP:0000365	Hearing impairment	3	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	HP:0040283 - Occasional		62
HP:0000598	HP:0000365	Hearing impairment	3	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3	HP:0040283 - Occasional		62
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000598	HP:0000365	Hearing impairment	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0000365	Hearing impairment	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000598	HP:0000388	Otitis media	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0000598	HP:0000365	Hearing impairment	3	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		1
HP:0000598	HP:0000365	Hearing impairment	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare
HP:0000598	HP:0000365	Hearing impairment	3	SRP72 CL E G H	6731	11303	OMIM:614675	Bone marrow failure syndrome 1	.		68
HP:0000598	HP:0000365	Hearing impairment	3	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0000598	HP:0000365	Hearing impairment	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000598	HP:0000388	Otitis media	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0000598	HP:0000365	Hearing impairment	3	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	HP:0040283 - Occasional		47
HP:0000598	HP:0000365	Hearing impairment	3	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0000598	HP:0000365	Hearing impairment	3	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0000598	HP:0000365	Hearing impairment	3	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0000365	Hearing impairment	3	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000598	HP:0000365	Hearing impairment	3	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0000598	HP:0000377	Abnormal pinna morphology	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0000598	HP:0001751	Vestibular dysfunction	3	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0000598	HP:0000388	Otitis media	3	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0000598	HP:0000365	Hearing impairment	3	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		110
HP:0000598	HP:0001751	Vestibular dysfunction	3	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0000598	HP:0001751	Vestibular dysfunction	3	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000598	HP:0000365	Hearing impairment	3	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000598	HP:0000365	Hearing impairment	3	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000598	HP:0000365	Hearing impairment	3	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0000598	HP:0000365	Hearing impairment	3	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000598	HP:0000365	Hearing impairment	3	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0000598	HP:0000388	Otitis media	3	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0000598	HP:0000365	Hearing impairment	3	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		3
HP:0000598	HP:0000388	Otitis media	3	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0000598	HP:0000377	Abnormal pinna morphology	3	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0000598	HP:0000365	Hearing impairment	3	STRC CL E G H	161497	16035	OMIM:603720	DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16			78
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STRC CL E G H	161497	16035	OMIM:603720	DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16			78
HP:0000598	HP:0000365	Hearing impairment	3	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility			78
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility			78
HP:0000598	HP:0000365	Hearing impairment	3	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome			78
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome	HP:0040281 - Very frequent		78
HP:0000598	HP:0000377	Abnormal pinna morphology	3	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000598	HP:0000365	Hearing impairment	3	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0000598	HP:0000365	Hearing impairment	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040284 - Very rare		85
HP:0000598	HP:0000365	Hearing impairment	3	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0000598	HP:0000365	Hearing impairment	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional		237
HP:0000598	HP:0000365	Hearing impairment	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040284 - Very rare		70
HP:0000598	HP:0000365	Hearing impairment	3	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0000598	HP:0000365	Hearing impairment	3	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0000598	HP:0000365	Hearing impairment	3	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0000598	HP:0000365	Hearing impairment	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0000598	HP:0000365	Hearing impairment	3	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0000598	HP:0000360	Tinnitus	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0000598	HP:0000388	Otitis media	3	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0000598	HP:0000365	Hearing impairment	3	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0000598	HP:0000365	Hearing impairment	3	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent		80
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000598	HP:0000365	Hearing impairment	3	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000598	HP:0000365	Hearing impairment	3	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		73
HP:0000598	HP:0000365	Hearing impairment	3	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		73
HP:0000598	HP:0000365	Hearing impairment	3	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0000598	HP:0000388	Otitis media	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000598	HP:0000365	Hearing impairment	3	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76			21
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76			21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0000598	HP:0000365	Hearing impairment	3	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic	HP:0040283 - Occasional		4
HP:0000598	HP:0000365	Hearing impairment	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040282 - Frequent		11
HP:0000598	HP:0000365	Hearing impairment	3	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0000365	Hearing impairment	3	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		23
HP:0000598	HP:0000365	Hearing impairment	3	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000598	HP:0000365	Hearing impairment	3	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0000365	Hearing impairment	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000388	Otitis media	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000365	Hearing impairment	3	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040282 - Frequent		21
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000598	HP:0000388	Otitis media	3	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000598	HP:0000365	Hearing impairment	3	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0000598	HP:0000365	Hearing impairment	3	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0000598	HP:0000365	Hearing impairment	3	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional		12
HP:0000598	HP:0000365	Hearing impairment	3	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040284 - Very rare		12
HP:0000598	HP:0000365	Hearing impairment	3	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0000388	Otitis media	3	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0000388	Otitis media	3	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I			5
HP:0000598	HP:0000388	Otitis media	3	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I			17
HP:0000598	HP:0000388	Otitis media	3	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000598	HP:0000365	Hearing impairment	3	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0000598	HP:0000365	Hearing impairment	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000365	Hearing impairment	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0000598	HP:0000365	Hearing impairment	3	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65			271
HP:0000598	HP:0000365	Hearing impairment	3	TBC1D24 CL E G H	57465	29203	OMIM:614617	Deafness, autosomal recessive 86	.		271
HP:0000598	HP:0000365	Hearing impairment	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.		271
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0000598	HP:0000365	Hearing impairment	3	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0000598	HP:0000365	Hearing impairment	3	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0000598	HP:0001751	Vestibular dysfunction	3	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0000598	HP:0000365	Hearing impairment	3	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000598	HP:0000365	Hearing impairment	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent		22
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000598	HP:0000365	Hearing impairment	3	TBL1Y CL E G H	90665	18502	OMIM:400047	DEAFNESS, Y-LINKED 2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TBL1Y CL E G H	90665	18502	OMIM:400047	DEAFNESS, Y-LINKED 2	.
HP:0000598	HP:0000365	Hearing impairment	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0000598	HP:0000365	Hearing impairment	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		32
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0000388	Otitis media	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0000365	Hearing impairment	3	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000598	HP:0000388	Otitis media	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0000598	HP:0000365	Hearing impairment	3	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent		5
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent		5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000598	HP:0000365	Hearing impairment	3	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040282 - Frequent		28
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000598	HP:0000365	Hearing impairment	3	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked	.		28
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked			28
HP:0000598	HP:0000365	Hearing impairment	3	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0000598	HP:0000388	Otitis media	3	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0000598	HP:0000365	Hearing impairment	3	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy			78
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		78
HP:0000598	HP:0000365	Hearing impairment	3	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent		28
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000598	HP:0000388	Otitis media	3	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0000598	HP:0000388	Otitis media	3	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0000598	HP:0000365	Hearing impairment	3	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0000598	HP:0000388	Otitis media	3	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0000598	HP:0000365	Hearing impairment	3	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0000598	HP:0000365	Hearing impairment	3	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.		82
HP:0000598	HP:0000365	Hearing impairment	3	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0000365	Hearing impairment	3	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV			31
HP:0000598	HP:0000365	Hearing impairment	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0000365	Hearing impairment	3	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000598	HP:0000365	Hearing impairment	3	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000598	HP:0001751	Vestibular dysfunction	3	TECRL CL E G H	253017	27365	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			4
HP:0000598	HP:0000365	Hearing impairment	3	TECTA CL E G H	7007	11720	OMIM:601543	Deafness, autosomal dominant nonsyndromic sensorineural 12			222
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TECTA CL E G H	7007	11720	OMIM:601543	Deafness, autosomal dominant nonsyndromic sensorineural 12	.		222
HP:0000598	HP:0000365	Hearing impairment	3	TECTA CL E G H	7007	11720	OMIM:603629	DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21			222
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TECTA CL E G H	7007	11720	OMIM:603629	DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21			222
HP:0000598	HP:0000365	Hearing impairment	3	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040282 - Frequent		12
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000598	HP:0000365	Hearing impairment	3	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.		12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000598	HP:0000365	Hearing impairment	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0000598	HP:0000365	Hearing impairment	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0000598	HP:0000360	Tinnitus	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0000598	HP:0000360	Tinnitus	3	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		3
HP:0000598	HP:0001751	Vestibular dysfunction	3	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000598	HP:0000365	Hearing impairment	3	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent		12
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000598	HP:0000365	Hearing impairment	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0000365	Hearing impairment	3	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional		104
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000598	HP:0000388	Otitis media	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000598	HP:0000365	Hearing impairment	3	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040284 - Very rare		155
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0000598	HP:0000388	Otitis media	3	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0000598	HP:0000365	Hearing impairment	3	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0000598	HP:0000365	Hearing impairment	3	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0000598	HP:0000365	Hearing impairment	3	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000598	HP:0000365	Hearing impairment	3	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000365	Hearing impairment	3	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000365	Hearing impairment	3	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000365	Hearing impairment	3	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000365	Hearing impairment	3	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		98
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0000598	HP:0000388	Otitis media	3	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0000598	HP:0000365	Hearing impairment	3	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0000598	HP:0000365	Hearing impairment	3	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0001751	Vestibular dysfunction	3	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0000598	HP:0000365	Hearing impairment	3	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive	.		161
HP:0000598	HP:0000365	Hearing impairment	3	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000598	HP:0000377	Abnormal pinna morphology	3	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000598	HP:0000365	Hearing impairment	3	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0000365	Hearing impairment	3	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0000598	HP:0001751	Vestibular dysfunction	3	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0000365	Hearing impairment	3	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0000598	HP:0000365	Hearing impairment	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0000598	HP:0000365	Hearing impairment	3	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0000598	HP:0000365	Hearing impairment	3	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		103
HP:0000598	HP:0000365	Hearing impairment	3	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.		103
HP:0000598	HP:0000365	Hearing impairment	3	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000598	HP:0000365	Hearing impairment	3	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000598	HP:0000388	Otitis media	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0000598	HP:0001751	Vestibular dysfunction	3	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0000598	HP:0000388	Otitis media	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0000598	HP:0000360	Tinnitus	3	TMC1 CL E G H	117531	16513	OMIM:606705	Deafness, autosomal dominant 36	.		109
HP:0000598	HP:0000365	Hearing impairment	3	TMC1 CL E G H	117531	16513	OMIM:606705	Deafness, autosomal dominant 36			109
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TMC1 CL E G H	117531	16513	OMIM:606705	Deafness, autosomal dominant 36	.	HP:0003621 - Juvenile onset	109
HP:0000598	HP:0000365	Hearing impairment	3	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7			109
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7			109
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0000598	HP:0000388	Otitis media	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0000598	HP:0000365	Hearing impairment	3	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	HP:0040283 - Occasional		23
HP:0000598	HP:0000365	Hearing impairment	3	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0000598	HP:0000360	Tinnitus	3	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000598	HP:0000365	Hearing impairment	3	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000598	HP:0001751	Vestibular dysfunction	3	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000598	HP:0000365	Hearing impairment	3	TMEM132E CL E G H	124842	26991	OMIM:618481	DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TMEM132E CL E G H	124842	26991	OMIM:618481	DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000598	HP:0000365	Hearing impairment	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0000365	Hearing impairment	3	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0000598	HP:0000365	Hearing impairment	3	TMEM43 CL E G H	79188	28472	OMIM:619832	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3			171
HP:0000598	HP:0001963	Abnormal speech discrimination	3	TMEM43 CL E G H	79188	28472	OMIM:619832	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3			171
HP:0000598	HP:0000365	Hearing impairment	3	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0000598	HP:0000365	Hearing impairment	3	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000598	HP:0000365	Hearing impairment	3	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040282 - Frequent		166
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000598	HP:0000365	Hearing impairment	3	TMIE CL E G H	259236	30800	OMIM:600971	Deafness, autosomal recessive 6	HP:0040280 - Obligate	HP:0003577 - Congenital onset	39
HP:0000598	HP:0000365	Hearing impairment	3	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy			136
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		136
HP:0000598	HP:0000365	Hearing impairment	3	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8			111
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8			111
HP:0000598	HP:0000365	Hearing impairment	3	TNC CL E G H	3371	5318	OMIM:615629	Deafness, autosomal dominant 56	.		9
HP:0000598	HP:0000365	Hearing impairment	3	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0000598	HP:0000365	Hearing impairment	3	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis			72
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis			72
HP:0000598	HP:0000365	Hearing impairment	3	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040282 - Frequent		72
HP:0000598	HP:0000365	Hearing impairment	3	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0000598	HP:0000365	Hearing impairment	3	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040282 - Frequent		44
HP:0000598	HP:0000365	Hearing impairment	3	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.		44
HP:0000598	HP:0000388	Otitis media	3	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		32
HP:0000598	HP:0000388	Otitis media	3	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0000598	HP:0000388	Otitis media	3	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		12
HP:0000598	HP:0000388	Otitis media	3	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2			12
HP:0000598	HP:0001751	Vestibular dysfunction	3	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0000598	HP:0000365	Hearing impairment	3	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0000598	HP:0000388	Otitis media	3	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0000598	HP:0000388	Otitis media	3	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy			73
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		73
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome			37
HP:0000598	HP:0000365	Hearing impairment	3	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy			180
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		180
HP:0000598	HP:0000365	Hearing impairment	3	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		248
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome			43
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000598	HP:0000365	Hearing impairment	3	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000598	HP:0000388	Otitis media	3	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000598	HP:0000365	Hearing impairment	3	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0000598	HP:0000365	Hearing impairment	3	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000598	HP:0000365	Hearing impairment	3	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0000598	HP:0000365	Hearing impairment	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0000598	HP:0000365	Hearing impairment	3	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0000598	HP:0000388	Otitis media	3	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0000598	HP:0000365	Hearing impairment	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.		140
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000598	HP:0000365	Hearing impairment	3	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional		140
HP:0000598	HP:0000365	Hearing impairment	3	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0000598	HP:0000388	Otitis media	3	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0000598	HP:0040115	Abnormal Eustachian tube morphology	3	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		140
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0000598	HP:0000365	Hearing impairment	3	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation			140
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		140
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0000598	HP:0000365	Hearing impairment	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0000598	HP:0000388	Otitis media	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0000598	HP:0000388	Otitis media	3	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0000598	HP:0001751	Vestibular dysfunction	3	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0000598	HP:0000365	Hearing impairment	3	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy			230
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		230
HP:0000598	HP:0000365	Hearing impairment	3	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	HP:0040284 - Very rare		54
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome			54
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0000598	HP:0000365	Hearing impairment	3	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040284 - Very rare		92
HP:0000598	HP:0000388	Otitis media	3	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0000598	HP:0000388	Otitis media	3	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000365	Hearing impairment	3	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000598	HP:0000365	Hearing impairment	3	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79	.	HP:0011463 - Childhood onset	32
HP:0000598	HP:0000365	Hearing impairment	3	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	HP:0040284 - Very rare
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0000598	HP:0000360	Tinnitus	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0000598	HP:0000365	Hearing impairment	3	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		27
HP:0000598	HP:0000365	Hearing impairment	3	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.		2
HP:0000598	HP:0000365	Hearing impairment	3	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040282 - Frequent		158
HP:0000598	HP:0001751	Vestibular dysfunction	3	TRDN CL E G H	10345	12261	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia			145
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0000598	HP:0000365	Hearing impairment	3	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		108
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000598	HP:0000365	Hearing impairment	3	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28			154
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28			154
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000598	HP:0000365	Hearing impairment	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0000598	HP:0000365	Hearing impairment	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0000365	Hearing impairment	3	TRMU CL E G H	55687	25481	OMIM:580000	Deafness, aminoglycoside-induced			101
HP:0000598	HP:0000365	Hearing impairment	3	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare
HP:0000598	HP:0000365	Hearing impairment	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNF CL E G H	4558	7481	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000598	HP:0000365	Hearing impairment	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNH CL E G H	4564	7487	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000598	HP:0000365	Hearing impairment	3	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNK CL E G H	4566	7489	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000598	HP:0000365	Hearing impairment	3	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000598	HP:0000365	Hearing impairment	3	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0000598	HP:0000365	Hearing impairment	3	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNP CL E G H	4571	7494	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000598	HP:0000365	Hearing impairment	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	TRNS1 CL E G H	4574	7497	OMIM:580000	Deafness, aminoglycoside-induced
HP:0000598	HP:0000365	Hearing impairment	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0000598	HP:0000365	Hearing impairment	3	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000598	HP:0001751	Vestibular dysfunction	3	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000598	HP:0000365	Hearing impairment	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0000598	HP:0000365	Hearing impairment	3	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000365	Hearing impairment	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0001751	Vestibular dysfunction	3	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect			124
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0000598	HP:0000365	Hearing impairment	3	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0000598	HP:0000365	Hearing impairment	3	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			151
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040282 - Frequent		151
HP:0000598	HP:0000365	Hearing impairment	3	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0000598	HP:0000365	Hearing impairment	3	TRRAP CL E G H	8295	12347	OMIM:618778	DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TRRAP CL E G H	8295	12347	OMIM:618778	DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75			2
HP:0000598	HP:0000365	Hearing impairment	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0000598	HP:0000365	Hearing impairment	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0000598	HP:0000365	Hearing impairment	3	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital			111
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital			111
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital			111
HP:0000598	HP:0000365	Hearing impairment	3	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000598	HP:0000365	Hearing impairment	3	TSPEAR CL E G H	54084	1268	OMIM:614861	Deafness, autosomal recessive 98			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TSPEAR CL E G H	54084	1268	OMIM:614861	Deafness, autosomal recessive 98	.		39
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000365	Hearing impairment	3	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0000598	HP:0000365	Hearing impairment	3	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000388	Otitis media	3	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0000598	HP:0000365	Hearing impairment	3	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	HP:0040283 - Occasional		88
HP:0000598	HP:0000365	Hearing impairment	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000598	HP:0000365	Hearing impairment	3	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		41
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0000598	HP:0000365	Hearing impairment	3	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0000598	HP:0000365	Hearing impairment	3	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy			7128
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		7128
HP:0000598	HP:0000365	Hearing impairment	3	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0000598	HP:0000365	Hearing impairment	3	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0000598	HP:0000365	Hearing impairment	3	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000598	HP:0000365	Hearing impairment	3	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	HP:0040283 - Occasional		66
HP:0000598	HP:0000365	Hearing impairment	3	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0000598	HP:0000365	Hearing impairment	3	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		66
HP:0000598	HP:0000365	Hearing impairment	3	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000598	HP:0000365	Hearing impairment	3	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent		18
HP:0000598	HP:0000365	Hearing impairment	3	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.		18
HP:0000598	HP:0000365	Hearing impairment	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000365	Hearing impairment	3	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000598	HP:0000365	Hearing impairment	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent		7
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0000598	HP:0000365	Hearing impairment	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0000365	Hearing impairment	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0000365	Hearing impairment	3	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent		7
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.		7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0000365	Hearing impairment	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0000598	HP:0000365	Hearing impairment	3	TWNK CL E G H	56652	1160	ORPHA:1186	Infantile-onset spinocerebellar ataxia	HP:0040281 - Very frequent		113
HP:0000598	HP:0000365	Hearing impairment	3	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.		113
HP:0000598	HP:0000365	Hearing impairment	3	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0000598	HP:0000365	Hearing impairment	3	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0000598	HP:0001751	Vestibular dysfunction	3	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0000598	HP:0000365	Hearing impairment	3	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0000598	HP:0001751	Vestibular dysfunction	3	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0000598	HP:0000377	Abnormal pinna morphology	3	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0000598	HP:0000365	Hearing impairment	3	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy			85
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		85
HP:0000598	HP:0000365	Hearing impairment	3	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		138
HP:0000598	HP:0000365	Hearing impairment	3	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		138
HP:0000598	HP:0000365	Hearing impairment	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0000598	HP:0000365	Hearing impairment	3	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent		146
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		146
HP:0000598	HP:0000365	Hearing impairment	3	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000598	HP:0001751	Vestibular dysfunction	3	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000598	HP:0000365	Hearing impairment	3	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0000598	HP:0000388	Otitis media	3	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0000598	HP:0000365	Hearing impairment	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0000598	HP:0000365	Hearing impairment	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.		13
HP:0000598	HP:0000365	Hearing impairment	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000365	Hearing impairment	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0000598	HP:0000365	Hearing impairment	3	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent		25
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0000598	HP:0000365	Hearing impairment	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000388	Otitis media	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000365	Hearing impairment	3	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	HP:0040284 - Very rare
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000598	HP:0000365	Hearing impairment	3	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040283 - Occasional		73
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0000598	HP:0000388	Otitis media	3	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13			30
HP:0000598	HP:0000365	Hearing impairment	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040284 - Very rare		116
HP:0000598	HP:0000365	Hearing impairment	3	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000598	HP:0000377	Abnormal pinna morphology	3	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0000598	HP:0000365	Hearing impairment	3	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0000598	HP:0000365	Hearing impairment	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0000598	HP:0000388	Otitis media	3	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0000598	HP:0000365	Hearing impairment	3	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000365	Hearing impairment	3	USH1C CL E G H	10083	12597	OMIM:602092	DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A			173
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	USH1C CL E G H	10083	12597	OMIM:602092	DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A			173
HP:0000598	HP:0000365	Hearing impairment	3	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000598	HP:0001751	Vestibular dysfunction	3	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000598	HP:0000365	Hearing impairment	3	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.		173
HP:0000598	HP:0001751	Vestibular dysfunction	3	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000598	HP:0000365	Hearing impairment	3	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC			173
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC			173
HP:0000598	HP:0001751	Vestibular dysfunction	3	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC			173
HP:0000598	HP:0000365	Hearing impairment	3	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000598	HP:0001751	Vestibular dysfunction	3	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000598	HP:0000365	Hearing impairment	3	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG			78
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG	.		78
HP:0000598	HP:0001751	Vestibular dysfunction	3	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG	.		78
HP:0000598	HP:0000365	Hearing impairment	3	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000598	HP:0000365	Hearing impairment	3	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000598	HP:0000365	Hearing impairment	3	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA			777
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA			777
HP:0000598	HP:0000365	Hearing impairment	3	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional
HP:0000598	HP:0000365	Hearing impairment	3	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0000598	HP:0000365	Hearing impairment	3	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0000598	HP:0000365	Hearing impairment	3	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000598	HP:0000365	Hearing impairment	3	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0000598	HP:0000377	Abnormal pinna morphology	3	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000598	HP:0000365	Hearing impairment	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0000598	HP:0000365	Hearing impairment	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0000598	HP:0000365	Hearing impairment	3	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000598	HP:0000377	Abnormal pinna morphology	3	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000598	HP:0000365	Hearing impairment	3	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		248
HP:0000598	HP:0000365	Hearing impairment	3	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0000598	HP:0000365	Hearing impairment	3	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0000598	HP:0000360	Tinnitus	3	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000598	HP:0000365	Hearing impairment	3	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000598	HP:0001751	Vestibular dysfunction	3	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000598	HP:0000360	Tinnitus	3	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0000598	HP:0000365	Hearing impairment	3	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0000598	HP:0001751	Vestibular dysfunction	3	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0000598	HP:0001751	Vestibular dysfunction	3	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0000598	HP:0000360	Tinnitus	3	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.		490
HP:0000598	HP:0000365	Hearing impairment	3	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.		490
HP:0000598	HP:0001751	Vestibular dysfunction	3	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0000598	HP:0000377	Abnormal pinna morphology	3	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0000598	HP:0000365	Hearing impairment	3	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12	.		1
HP:0000598	HP:0000365	Hearing impairment	3	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		1
HP:0000598	HP:0000365	Hearing impairment	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000598	HP:0000377	Abnormal pinna morphology	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional		546
HP:0000598	HP:0000365	Hearing impairment	3	VPS33B CL E G H	26276	12712	OMIM:620009				63
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	VPS33B CL E G H	26276	12712	OMIM:620009				63
HP:0000598	HP:0000365	Hearing impairment	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0000598	HP:0000377	Abnormal pinna morphology	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0000598	HP:0000365	Hearing impairment	3	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040283 - Occasional		7
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040284 - Very rare		7
HP:0000598	HP:0000365	Hearing impairment	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0000388	Otitis media	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000365	Hearing impairment	3	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0000598	HP:0000365	Hearing impairment	3	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0000377	Abnormal pinna morphology	3	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0001751	Vestibular dysfunction	3	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0000365	Hearing impairment	3	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.		20
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	HP:0040283 - Occasional		20
HP:0000598	HP:0000365	Hearing impairment	3	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional		20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000598	HP:0000365	Hearing impairment	3	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000598	HP:0000388	Otitis media	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0000598	HP:0000388	Otitis media	3	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent		65
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000598	HP:0000365	Hearing impairment	3	WBP2 CL E G H	23558	12738	OMIM:617639	DEAFNESS, AUTOSOMAL RECESSIVE 107; DFNB107			3
HP:0000598	HP:0000365	Hearing impairment	3	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		60
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0000598	HP:0000365	Hearing impairment	3	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0000365	Hearing impairment	3	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0000598	HP:0000388	Otitis media	3	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000598	HP:0040115	Abnormal Eustachian tube morphology	3	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0000598	HP:0000388	Otitis media	3	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0000598	HP:0000365	Hearing impairment	3	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000598	HP:0000365	Hearing impairment	3	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6			389
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6			389
HP:0000598	HP:0000365	Hearing impairment	3	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040281 - Very frequent		389
HP:0000598	HP:0000365	Hearing impairment	3	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0000598	HP:0000365	Hearing impairment	3	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040282 - Frequent		389
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0000598	HP:0000365	Hearing impairment	3	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant	.		389
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000598	HP:0000365	Hearing impairment	3	WHRN CL E G H	25861	16361	OMIM:607084	Deafness, autosomal recessive 31			155
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	WHRN CL E G H	25861	16361	OMIM:607084	Deafness, autosomal recessive 31	.		155
HP:0000598	HP:0000365	Hearing impairment	3	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000598	HP:0000365	Hearing impairment	3	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID	.	HP:0003577 - Congenital onset	155
HP:0000598	HP:0000388	Otitis media	3	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent		6
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000598	HP:0000365	Hearing impairment	3	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0000598	HP:0000365	Hearing impairment	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.		13
HP:0000598	HP:0000377	Abnormal pinna morphology	3	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0000598	HP:0000365	Hearing impairment	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0000598	HP:0000365	Hearing impairment	3	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		34
HP:0000598	HP:0000365	Hearing impairment	3	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0000598	HP:0000365	Hearing impairment	3	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		86
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		86
HP:0000598	HP:0000365	Hearing impairment	3	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	HP:0040283 - Occasional		109
HP:0000598	HP:0000365	Hearing impairment	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0000598	HP:0000377	Abnormal pinna morphology	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0000598	HP:0000365	Hearing impairment	3	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	HP:0040283 - Occasional		9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000598	HP:0000365	Hearing impairment	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000598	HP:0000377	Abnormal pinna morphology	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0000598	HP:0000365	Hearing impairment	3	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040281 - Very frequent		2
HP:0000598	HP:0000365	Hearing impairment	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000598	HP:0000365	Hearing impairment	3	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0000598	HP:0000377	Abnormal pinna morphology	3	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.		7
HP:0000598	HP:0000377	Abnormal pinna morphology	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0000598	HP:0001751	Vestibular dysfunction	3	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0000598	HP:0000365	Hearing impairment	3	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0000598	HP:0000365	Hearing impairment	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2			9
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000598	HP:0000388	Otitis media	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000598	HP:0000365	Hearing impairment	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000598	HP:0000388	Otitis media	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare		362
HP:0000598	HP:0000365	Hearing impairment	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000598	HP:0000388	Otitis media	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare		362
HP:0000598	HP:0000365	Hearing impairment	3	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		30
HP:0000598	HP:0000365	Hearing impairment	3	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional		5
HP:0000598	HP:0000365	Hearing impairment	3	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent		5
HP:0000598	HP:0000365	Hearing impairment	3	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0000598	HP:0000365	Hearing impairment	3	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000598	HP:0000365	Hearing impairment	3	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0000598	HP:0000365	Hearing impairment	3	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0000598	HP:0000365	Hearing impairment	3	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000598	HP:0000365	Hearing impairment	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0000388	Otitis media	3	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0000598	HP:0000365	Hearing impairment	3	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0000598	HP:0000388	Otitis media	3	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.		4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000598	HP:0000388	Otitis media	3	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive			1
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000598	HP:0000365	Hearing impairment	3	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0000598	HP:0000365	Hearing impairment	3	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000598	HP:0000365	Hearing impairment	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0000365	Hearing impairment	3	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000598	HP:0000365	Hearing impairment	3	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		397
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000598	HP:0000365	Hearing impairment	3	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000598	HP:0000365	Hearing impairment	3	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0000598	HP:0000365	Hearing impairment	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0000598	HP:0000377	Abnormal pinna morphology	3	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0000598	HP:0000365	Hearing impairment	3	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional
HP:0000598	HP:0008542	Low-frequency hearing loss	4	CL E G H
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	4	CL E G H
HP:0000598	HP:0009893	Telangiectasia of the ear	4	CL E G H
HP:0000598	HP:0011252	Cryptotia	4	CL E G H
HP:0000598	HP:0011391	Morphological abnormality of the nerves of the inner ear	4	CL E G H
HP:0000598	HP:0011475	Persistent stapedial artery	4	CL E G H
HP:0000598	HP:0012779	Transient hearing impairment	4	CL E G H
HP:0000598	HP:0012781	Mid-frequency hearing loss	4	CL E G H
HP:0000598	HP:0030023	Quelprud nodule	4	CL E G H
HP:0000598	HP:0030677	Mozart ear	4	CL E G H
HP:0000598	HP:0030787	Cerumen abnormality	4	CL E G H
HP:0000598	HP:0034424	Clicking tinnitus	4	CL E G H
HP:0000598	HP:0040097	Neoplasm of the ceruminal gland	4	CL E G H
HP:0000598	HP:0040098	Basalioma of the outer ear	4	CL E G H
HP:0000598	HP:0040112	Abnormal number of tubercles	4	CL E G H
HP:0000598	HP:0040116	Aplasia of the Eustachian tube	4	CL E G H
HP:0000598	HP:0040117	Atresia of the Eustachian tube	4	CL E G H
HP:0000598	HP:0040118	Stenosis of the Eustachian tube	4	CL E G H
HP:0000598	HP:0040269	Blocked Eustachian tube	4	CL E G H
HP:0000598	HP:0100687	Polyotia	4	CL E G H
HP:0000598	HP:0400003	Focal absence of the external ear	4	CL E G H
HP:0000598	HP:3000002	Abnormal inner ear epithelium morphology	4	CL E G H
HP:0000598	HP:4000032	False perception of self-motion	4	CL E G H
HP:0000598	HP:4000033	Non-spinning vertigo	4	CL E G H
HP:0000598	HP:0000403	Recurrent otitis media	4	A2ML1 CL E G H	144568	23336	OMIM:166760	Otitis media, susceptibility to			120
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		57
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	.
HP:0000598	HP:0000411	Protruding ear	4	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0000598	HP:0011039	Abnormal helix morphology	4	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0000598	HP:0000389	Chronic otitis media	4	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		130
HP:0000598	HP:0011039	Abnormal helix morphology	4	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent		130
HP:0000598	HP:0000405	Conductive hearing impairment	4	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ABCC1 CL E G H	4363	51	OMIM:618915	DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77			22
HP:0000598	HP:0000405	Conductive hearing impairment	4	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0000598	HP:0000410	Mixed hearing impairment	4	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0009894	Thickened ears	4	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional		245
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		254
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		135
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.		50
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0000598	HP:0008551	Microtia	4	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0000598	HP:0000357	Abnormal location of ears	4	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0000598	HP:0000357	Abnormal location of ears	4	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0000598	HP:0011039	Abnormal helix morphology	4	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000598	HP:0000357	Abnormal location of ears	4	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000598	HP:0000357	Abnormal location of ears	4	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000598	HP:0000357	Abnormal location of ears	4	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040281 - Very frequent		120
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0000598	HP:0000357	Abnormal location of ears	4	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0000598	HP:0000403	Recurrent otitis media	4	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.		16
HP:0000598	HP:0000357	Abnormal location of ears	4	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0000598	HP:0000357	Abnormal location of ears	4	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0000598	HP:0000357	Abnormal location of ears	4	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0000598	HP:0011039	Abnormal helix morphology	4	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		208
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20			123
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20	.		123
HP:0000598	HP:0001730	Progressive hearing impairment	4	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20			123
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20	.		123
HP:0000598	HP:0000357	Abnormal location of ears	4	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		307
HP:0000598	HP:0000405	Conductive hearing impairment	4	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency	.		13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040284 - Very rare		13
HP:0000598	HP:0000403	Recurrent otitis media	4	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent		75
HP:0000598	HP:0000357	Abnormal location of ears	4	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0008551	Microtia	4	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0002321	Vertigo	4	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040281 - Very frequent		22
HP:0000598	HP:0000403	Recurrent otitis media	4	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0000598	HP:0410017	Otitis externa	4	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0000598	HP:0410017	Otitis externa	4	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent		2
HP:0000598	HP:0000357	Abnormal location of ears	4	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus			8
HP:0000598	HP:0000357	Abnormal location of ears	4	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0000598	HP:0000405	Conductive hearing impairment	4	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0008572	External ear malformation	4	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000400	Macrotia	4	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000598	HP:0011039	Abnormal helix morphology	4	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0000598	HP:0000357	Abnormal location of ears	4	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0000598	HP:0000357	Abnormal location of ears	4	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0000598	HP:0000400	Macrotia	4	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000403	Recurrent otitis media	4	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000403	Recurrent otitis media	4	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.		9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44			2
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44			2
HP:0000598	HP:0000357	Abnormal location of ears	4	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC			530
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC	.		530
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	HP:0040283 - Occasional		26
HP:0000598	HP:0000357	Abnormal location of ears	4	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000598	HP:0000411	Protruding ear	4	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0000598	HP:0008551	Microtia	4	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000598	HP:0000357	Abnormal location of ears	4	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000598	HP:0000357	Abnormal location of ears	4	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0000598	HP:0000357	Abnormal location of ears	4	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0000598	HP:0000400	Macrotia	4	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0000598	HP:0000400	Macrotia	4	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0000598	HP:0011039	Abnormal helix morphology	4	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0000598	HP:0000357	Abnormal location of ears	4	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000598	HP:0011039	Abnormal helix morphology	4	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0000598	HP:0000357	Abnormal location of ears	4	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000598	HP:0000378	Cupped ear	4	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000405	Conductive hearing impairment	4	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000410	Mixed hearing impairment	4	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0009894	Thickened ears	4	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000389	Chronic otitis media	4	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional		76
HP:0000598	HP:0008551	Microtia	4	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent		76
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0000598	HP:0000405	Conductive hearing impairment	4	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000598	HP:0011039	Abnormal helix morphology	4	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000598	HP:0000400	Macrotia	4	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0000598	HP:0000357	Abnormal location of ears	4	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0000598	HP:0000357	Abnormal location of ears	4	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000598	HP:0000411	Protruding ear	4	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0000598	HP:0000357	Abnormal location of ears	4	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000598	HP:0000411	Protruding ear	4	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000598	HP:0000357	Abnormal location of ears	4	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0000598	HP:0000357	Abnormal location of ears	4	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0000598	HP:0000357	Abnormal location of ears	4	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000598	HP:0000405	Conductive hearing impairment	4	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0000598	HP:0000405	Conductive hearing impairment	4	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000598	HP:0000400	Macrotia	4	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome	HP:0040283 - Occasional		60
HP:0000598	HP:0004454	Abnormal middle ear reflexes	4	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5	.		60
HP:0000598	HP:0000357	Abnormal location of ears	4	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0000598	HP:0000400	Macrotia	4	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		95
HP:0000598	HP:0002321	Vertigo	4	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000598	HP:0020123	Tympanosclerosis	4	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000598	HP:0000389	Chronic otitis media	4	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent		19
HP:0000598	HP:0000357	Abnormal location of ears	4	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000598	HP:0000400	Macrotia	4	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		54
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000598	HP:0000357	Abnormal location of ears	4	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0000598	HP:0000411	Protruding ear	4	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0000598	HP:0000357	Abnormal location of ears	4	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0000598	HP:0000411	Protruding ear	4	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.		89
HP:0000598	HP:0000357	Abnormal location of ears	4	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0000598	HP:0000400	Macrotia	4	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0000598	HP:0000357	Abnormal location of ears	4	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	HP:0040283 - Occasional		41
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0000598	HP:0000357	Abnormal location of ears	4	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0000598	HP:0000357	Abnormal location of ears	4	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000598	HP:0000400	Macrotia	4	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0000598	HP:0000357	Abnormal location of ears	4	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0000598	HP:0000357	Abnormal location of ears	4	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0000598	HP:0000357	Abnormal location of ears	4	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0000598	HP:0000357	Abnormal location of ears	4	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000598	HP:0000400	Macrotia	4	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000598	HP:0000357	Abnormal location of ears	4	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000598	HP:0000357	Abnormal location of ears	4	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000598	HP:0000400	Macrotia	4	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000598	HP:0000400	Macrotia	4	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0000598	HP:0001730	Progressive hearing impairment	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0000598	HP:0009894	Thickened ears	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0000598	HP:0012714	Severe hearing impairment	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000598	HP:0001730	Progressive hearing impairment	4	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000598	HP:0000389	Chronic otitis media	4	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		75
HP:0000598	HP:0011039	Abnormal helix morphology	4	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent		75
HP:0000598	HP:0000389	Chronic otitis media	4	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		63
HP:0000598	HP:0011039	Abnormal helix morphology	4	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent		63
HP:0000598	HP:0000357	Abnormal location of ears	4	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0000598	HP:0000357	Abnormal location of ears	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0000598	HP:0000405	Conductive hearing impairment	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent		5
HP:0000598	HP:0000357	Abnormal location of ears	4	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0000598	HP:0000405	Conductive hearing impairment	4	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0000598	HP:0000357	Abnormal location of ears	4	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0000405	Conductive hearing impairment	4	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0000357	Abnormal location of ears	4	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000598	HP:0000357	Abnormal location of ears	4	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0000598	HP:0000357	Abnormal location of ears	4	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0000405	Conductive hearing impairment	4	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0000598	HP:0008551	Microtia	4	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0011039	Abnormal helix morphology	4	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0000357	Abnormal location of ears	4	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0000598	HP:0000405	Conductive hearing impairment	4	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent		34
HP:0000598	HP:0000405	Conductive hearing impairment	4	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0000410	Mixed hearing impairment	4	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	.		2
HP:0000598	HP:0011039	Abnormal helix morphology	4	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0000403	Recurrent otitis media	4	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000598	HP:0008572	External ear malformation	4	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040282 - Frequent		150
HP:0000598	HP:0000405	Conductive hearing impairment	4	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional		164
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional		164
HP:0000598	HP:0000405	Conductive hearing impairment	4	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0000598	HP:0000410	Mixed hearing impairment	4	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.		164
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		95
HP:0000598	HP:0000389	Chronic otitis media	4	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0000598	HP:0000411	Protruding ear	4	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040281 - Very frequent		102
HP:0000598	HP:0000357	Abnormal location of ears	4	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0000598	HP:0000400	Macrotia	4	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0000598	HP:0000400	Macrotia	4	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0000598	HP:0000405	Conductive hearing impairment	4	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000598	HP:0000411	Protruding ear	4	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0000598	HP:0000357	Abnormal location of ears	4	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0000598	HP:0000357	Abnormal location of ears	4	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000598	HP:0000411	Protruding ear	4	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0000598	HP:0000357	Abnormal location of ears	4	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0000598	HP:0000357	Abnormal location of ears	4	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0000598	HP:0000400	Macrotia	4	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040282 - Frequent		13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0000598	HP:0005101	High-frequency hearing impairment	4	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0000598	HP:0000411	Protruding ear	4	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	HP:0040281 - Very frequent		13
HP:0000598	HP:0000357	Abnormal location of ears	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000598	HP:0000403	Recurrent otitis media	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000598	HP:0000357	Abnormal location of ears	4	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000598	HP:0000400	Macrotia	4	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness	HP:0040281 - Very frequent		1
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0000598	HP:0000411	Protruding ear	4	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		3179
HP:0000598	HP:0000389	Chronic otitis media	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000405	Conductive hearing impairment	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0000598	HP:0009797	Cholesteatoma	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0000598	HP:0000403	Recurrent otitis media	4	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		6
HP:0000598	HP:0000405	Conductive hearing impairment	4	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.		3
HP:0000598	HP:0000405	Conductive hearing impairment	4	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0000598	HP:0000357	Abnormal location of ears	4	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040281 - Very frequent		219
HP:0000598	HP:0000357	Abnormal location of ears	4	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000598	HP:0000357	Abnormal location of ears	4	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0000405	Conductive hearing impairment	4	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0000357	Abnormal location of ears	4	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0000598	HP:0000405	Conductive hearing impairment	4	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000598	HP:0000357	Abnormal location of ears	4	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0000598	HP:0000357	Abnormal location of ears	4	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000598	HP:0000405	Conductive hearing impairment	4	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0000598	HP:0000405	Conductive hearing impairment	4	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0000598	HP:0000357	Abnormal location of ears	4	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		253
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		253
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000598	HP:0001756	Vestibular hypofunction	4	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000598	HP:0001730	Progressive hearing impairment	4	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000598	HP:0000405	Conductive hearing impairment	4	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0000598	HP:0000410	Mixed hearing impairment	4	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0000389	Chronic otitis media	4	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000405	Conductive hearing impairment	4	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0011039	Abnormal helix morphology	4	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0000411	Protruding ear	4	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040282 - Frequent		166
HP:0000598	HP:0000411	Protruding ear	4	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0000598	HP:0000357	Abnormal location of ears	4	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional		78
HP:0000598	HP:0001757	High-frequency sensorineural hearing impairment	4	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional		78
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		15
HP:0000598	HP:0000357	Abnormal location of ears	4	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0000400	Macrotia	4	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0000598	HP:0000389	Chronic otitis media	4	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		1
HP:0000598	HP:0011039	Abnormal helix morphology	4	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0000598	HP:0000357	Abnormal location of ears	4	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0000598	HP:0000357	Abnormal location of ears	4	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000598	HP:0000378	Cupped ear	4	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000598	HP:0011039	Abnormal helix morphology	4	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000598	HP:0000357	Abnormal location of ears	4	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000598	HP:0000357	Abnormal location of ears	4	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000598	HP:0000357	Abnormal location of ears	4	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000598	HP:0000357	Abnormal location of ears	4	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000598	HP:0000403	Recurrent otitis media	4	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0000598	HP:0002321	Vertigo	4	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0000598	HP:0002321	Vertigo	4	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.		239
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000598	HP:0001730	Progressive hearing impairment	4	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	HP:0040281 - Very frequent		150
HP:0000598	HP:0000357	Abnormal location of ears	4	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12			5
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0000598	HP:0000357	Abnormal location of ears	4	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0000598	HP:0000357	Abnormal location of ears	4	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000598	HP:0000357	Abnormal location of ears	4	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0000598	HP:0000357	Abnormal location of ears	4	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0000598	HP:0000357	Abnormal location of ears	4	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0000598	HP:0000357	Abnormal location of ears	4	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000598	HP:0000357	Abnormal location of ears	4	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0000598	HP:0000400	Macrotia	4	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0000598	HP:0000411	Protruding ear	4	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness	.		67
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	4	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040281 - Very frequent		5
HP:0000598	HP:0012714	Severe hearing impairment	4	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant	.		5
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0000598	HP:0000357	Abnormal location of ears	4	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		5
HP:0000598	HP:0000400	Macrotia	4	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040284 - Very rare		5
HP:0000598	HP:0009894	Thickened ears	4	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.		5
HP:0000598	HP:0000357	Abnormal location of ears	4	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000598	HP:0000357	Abnormal location of ears	4	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		192
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		168
HP:0000598	HP:0000357	Abnormal location of ears	4	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional		169
HP:0000598	HP:0000357	Abnormal location of ears	4	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0000598	HP:0008551	Microtia	4	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000598	HP:0000357	Abnormal location of ears	4	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000598	HP:0008551	Microtia	4	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000598	HP:0000357	Abnormal location of ears	4	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0000598	HP:0000357	Abnormal location of ears	4	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0000598	HP:0000357	Abnormal location of ears	4	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0000598	HP:0000411	Protruding ear	4	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		43
HP:0000598	HP:0000357	Abnormal location of ears	4	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0000405	Conductive hearing impairment	4	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000598	HP:0000410	Mixed hearing impairment	4	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0000598	HP:0000357	Abnormal location of ears	4	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0000598	HP:0000357	Abnormal location of ears	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000598	HP:0008551	Microtia	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000598	HP:0009896	Abnormal antitragus morphology	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000598	HP:0000357	Abnormal location of ears	4	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0000405	Conductive hearing impairment	4	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0000598	HP:0008551	Microtia	4	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0000357	Abnormal location of ears	4	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000598	HP:0000411	Protruding ear	4	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000598	HP:0008551	Microtia	4	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0000357	Abnormal location of ears	4	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000598	HP:0000357	Abnormal location of ears	4	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000598	HP:0000357	Abnormal location of ears	4	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0000598	HP:0000411	Protruding ear	4	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000357	Abnormal location of ears	4	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0000598	HP:0000357	Abnormal location of ears	4	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0000598	HP:0000357	Abnormal location of ears	4	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0000598	HP:0000357	Abnormal location of ears	4	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		204
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000598	HP:0000357	Abnormal location of ears	4	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000598	HP:0000403	Recurrent otitis media	4	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000598	HP:0000357	Abnormal location of ears	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000357	Abnormal location of ears	4	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0000598	HP:0000405	Conductive hearing impairment	4	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0000598	HP:0000357	Abnormal location of ears	4	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0000598	HP:0000357	Abnormal location of ears	4	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0000598	HP:0000357	Abnormal location of ears	4	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0000598	HP:0000405	Conductive hearing impairment	4	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0000598	HP:0000357	Abnormal location of ears	4	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0000598	HP:0000357	Abnormal location of ears	4	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0000598	HP:0000357	Abnormal location of ears	4	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0000598	HP:0000357	Abnormal location of ears	4	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.		8
HP:0000598	HP:0000357	Abnormal location of ears	4	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0000598	HP:0000378	Cupped ear	4	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.		11
HP:0000598	HP:0011039	Abnormal helix morphology	4	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0000598	HP:0000357	Abnormal location of ears	4	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0000598	HP:0000357	Abnormal location of ears	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0002321	Vertigo	4	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		101
HP:0000598	HP:0000357	Abnormal location of ears	4	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000598	HP:0008572	External ear malformation	4	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		101
HP:0000598	HP:0000357	Abnormal location of ears	4	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000598	HP:0000403	Recurrent otitis media	4	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0000598	HP:0011039	Abnormal helix morphology	4	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000598	HP:0000357	Abnormal location of ears	4	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000598	HP:0000378	Cupped ear	4	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome	HP:0040281 - Very frequent		72
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.		72
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BDP1 CL E G H	55814	13652	OMIM:618257	Deafness, autosomal recessive 112			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	HP:0040283 - Occasional		1
HP:0000598	HP:0000405	Conductive hearing impairment	4	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0000598	HP:0011039	Abnormal helix morphology	4	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0000598	HP:0000357	Abnormal location of ears	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000411	Protruding ear	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0020206	Simple ear	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0011039	Abnormal helix morphology	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000411	Protruding ear	4	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0000598	HP:0000411	Protruding ear	4	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.		314
HP:0000598	HP:0000403	Recurrent otitis media	4	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.		4
HP:0000598	HP:0000389	Chronic otitis media	4	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		4
HP:0000598	HP:0008572	External ear malformation	4	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		4
HP:0000598	HP:0000357	Abnormal location of ears	4	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0000598	HP:0000411	Protruding ear	4	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0000598	HP:0008551	Microtia	4	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional		13
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0000598	HP:0011039	Abnormal helix morphology	4	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0000598	HP:0000357	Abnormal location of ears	4	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000598	HP:0000405	Conductive hearing impairment	4	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0000598	HP:0000403	Recurrent otitis media	4	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		38
HP:0000598	HP:0000405	Conductive hearing impairment	4	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		38
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040283 - Occasional		38
HP:0000598	HP:0000357	Abnormal location of ears	4	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000598	HP:0000400	Macrotia	4	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6	.		38
HP:0000598	HP:0000411	Protruding ear	4	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000598	HP:0000357	Abnormal location of ears	4	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0000598	HP:0000357	Abnormal location of ears	4	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0000598	HP:0000403	Recurrent otitis media	4	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000405	Conductive hearing impairment	4	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0008551	Microtia	4	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000598	HP:0000400	Macrotia	4	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0000598	HP:0011039	Abnormal helix morphology	4	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000598	HP:0000357	Abnormal location of ears	4	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000598	HP:0002321	Vertigo	4	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		276
HP:0000598	HP:0000357	Abnormal location of ears	4	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0000357	Abnormal location of ears	4	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0000598	HP:0000357	Abnormal location of ears	4	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000598	HP:0011039	Abnormal helix morphology	4	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000598	HP:0000357	Abnormal location of ears	4	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		276
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	4	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		276
HP:0000598	HP:0012714	Severe hearing impairment	4	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0000598	HP:0008572	External ear malformation	4	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0000598	HP:0008572	External ear malformation	4	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0000598	HP:0000357	Abnormal location of ears	4	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0000598	HP:0000357	Abnormal location of ears	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0000400	Macrotia	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000405	Conductive hearing impairment	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0000598	HP:0000357	Abnormal location of ears	4	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0000598	HP:0008572	External ear malformation	4	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0000598	HP:0000378	Cupped ear	4	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0000598	HP:0000400	Macrotia	4	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0000598	HP:0000400	Macrotia	4	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0000598	HP:0000411	Protruding ear	4	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040284 - Very rare		53
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent		53
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040282 - Frequent		223
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0000598	HP:0000403	Recurrent otitis media	4	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0000598	HP:0000403	Recurrent otitis media	4	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0000598	HP:0000389	Chronic otitis media	4	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent		109
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040282 - Frequent		109
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		2
HP:0000598	HP:0000357	Abnormal location of ears	4	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0000598	HP:0000357	Abnormal location of ears	4	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0000598	HP:0000357	Abnormal location of ears	4	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0000598	HP:0000357	Abnormal location of ears	4	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0000598	HP:0000357	Abnormal location of ears	4	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0000598	HP:0000394	Lop ear	4	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.		13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	HP:0040284 - Very rare
HP:0000598	HP:0000357	Abnormal location of ears	4	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0000598	HP:0000357	Abnormal location of ears	4	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0000598	HP:0002321	Vertigo	4	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0000598	HP:0000403	Recurrent otitis media	4	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		56
HP:0000598	HP:0000400	Macrotia	4	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000598	HP:0000405	Conductive hearing impairment	4	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000598	HP:0000405	Conductive hearing impairment	4	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0000598	HP:0002321	Vertigo	4	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy	HP:0040282 - Frequent		449
HP:0000598	HP:0002321	Vertigo	4	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.		449
HP:0000598	HP:0002321	Vertigo	4	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0000598	HP:0002321	Vertigo	4	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040281 - Very frequent		449
HP:0000598	HP:0007670	Abnormal vestibulo-ocular reflex	4	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.		449
HP:0000598	HP:0000357	Abnormal location of ears	4	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0000598	HP:0000357	Abnormal location of ears	4	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0000598	HP:0002321	Vertigo	4	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional		32
HP:0000598	HP:0002321	Vertigo	4	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0000598	HP:0002321	Vertigo	4	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5	HP:0040282 - Frequent		146
HP:0000598	HP:0002321	Vertigo	4	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5	.		146
HP:0000598	HP:0002321	Vertigo	4	CALM1 CL E G H	801	1442	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent		18
HP:0000598	HP:0002321	Vertigo	4	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4	.		18
HP:0000598	HP:0002321	Vertigo	4	CALM2 CL E G H	805	1445	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent		13
HP:0000598	HP:0002321	Vertigo	4	CALM3 CL E G H	808	1449	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent		16
HP:0000598	HP:0000357	Abnormal location of ears	4	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0000598	HP:0000411	Protruding ear	4	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.		1
HP:0000598	HP:0000357	Abnormal location of ears	4	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0000598	HP:0000357	Abnormal location of ears	4	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000598	HP:0000411	Protruding ear	4	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0000598	HP:0400005	Short ear	4	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	HP:0040283 - Occasional		34
HP:0000598	HP:0400005	Short ear	4	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare		34
HP:0000598	HP:0000357	Abnormal location of ears	4	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000598	HP:0020206	Simple ear	4	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000598	HP:0000389	Chronic otitis media	4	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000411	Protruding ear	4	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0000598	HP:0000400	Macrotia	4	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000598	HP:0000400	Macrotia	4	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent		118
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent		118
HP:0000598	HP:0002321	Vertigo	4	CASQ2 CL E G H	845	1513	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent		129
HP:0000598	HP:0000357	Abnormal location of ears	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0000405	Conductive hearing impairment	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0008551	Microtia	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0000598	HP:0040113	Old-aged sensorineural hearing impairment	4	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040283 - Occasional		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility			12
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility	.		12
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome	HP:0040281 - Very frequent		12
HP:0000598	HP:0000357	Abnormal location of ears	4	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0000598	HP:0000357	Abnormal location of ears	4	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		317
HP:0000598	HP:0011039	Abnormal helix morphology	4	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0000357	Abnormal location of ears	4	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0000598	HP:0000400	Macrotia	4	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0000598	HP:0000357	Abnormal location of ears	4	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0000598	HP:0000357	Abnormal location of ears	4	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000598	HP:0000357	Abnormal location of ears	4	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000598	HP:0000357	Abnormal location of ears	4	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0000598	HP:0000357	Abnormal location of ears	4	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000598	HP:0000405	Conductive hearing impairment	4	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0000598	HP:0000357	Abnormal location of ears	4	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0000598	HP:0000405	Conductive hearing impairment	4	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0000598	HP:0008572	External ear malformation	4	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		147
HP:0000598	HP:0000389	Chronic otitis media	4	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		36
HP:0000598	HP:0000403	Recurrent otitis media	4	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		36
HP:0000598	HP:0000405	Conductive hearing impairment	4	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		36
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000357	Abnormal location of ears	4	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0000598	HP:0000411	Protruding ear	4	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0000598	HP:0000389	Chronic otitis media	4	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		126
HP:0000598	HP:0000403	Recurrent otitis media	4	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		126
HP:0000598	HP:0000405	Conductive hearing impairment	4	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		126
HP:0000598	HP:0000403	Recurrent otitis media	4	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0000598	HP:0000389	Chronic otitis media	4	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		182
HP:0000598	HP:0000403	Recurrent otitis media	4	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		182
HP:0000598	HP:0000405	Conductive hearing impairment	4	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		182
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CCDC50 CL E G H	152137	18111	OMIM:607453	DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44			35
HP:0000598	HP:0000403	Recurrent otitis media	4	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.		23
HP:0000598	HP:0000389	Chronic otitis media	4	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		23
HP:0000598	HP:0000403	Recurrent otitis media	4	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		23
HP:0000598	HP:0000405	Conductive hearing impairment	4	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0000598	HP:0000411	Protruding ear	4	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent		5
HP:0000598	HP:0000411	Protruding ear	4	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0000598	HP:0002321	Vertigo	4	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0000598	HP:0030393	Endolymphatic sac tumor	4	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.		1
HP:0000598	HP:0002321	Vertigo	4	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.		1
HP:0000598	HP:0000357	Abnormal location of ears	4	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0000598	HP:0000389	Chronic otitis media	4	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		23
HP:0000598	HP:0000403	Recurrent otitis media	4	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		23
HP:0000598	HP:0000405	Conductive hearing impairment	4	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0000598	HP:0000394	Lop ear	4	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040281 - Very frequent		7
HP:0000598	HP:0000357	Abnormal location of ears	4	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0000598	HP:0002321	Vertigo	4	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66			1
HP:0000598	HP:0000389	Chronic otitis media	4	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		38
HP:0000598	HP:0000403	Recurrent otitis media	4	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2			38
HP:0000598	HP:0000403	Recurrent otitis media	4	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3			38
HP:0000598	HP:0000403	Recurrent otitis media	4	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19	.		18
HP:0000598	HP:0000403	Recurrent otitis media	4	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	.		24
HP:0000598	HP:0000403	Recurrent otitis media	4	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.		19
HP:0000598	HP:0000403	Recurrent otitis media	4	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79			1
HP:0000598	HP:0000403	Recurrent otitis media	4	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	.		9
HP:0000598	HP:0000389	Chronic otitis media	4	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		9
HP:0000598	HP:0008572	External ear malformation	4	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		9
HP:0000598	HP:0000403	Recurrent otitis media	4	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.		6
HP:0000598	HP:0000389	Chronic otitis media	4	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		6
HP:0000598	HP:0008572	External ear malformation	4	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		6
HP:0000598	HP:0000389	Chronic otitis media	4	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000598	HP:0000357	Abnormal location of ears	4	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	4	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent		83
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm			2
HP:0000598	HP:0000357	Abnormal location of ears	4	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000598	HP:0000357	Abnormal location of ears	4	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000598	HP:0000357	Abnormal location of ears	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000403	Recurrent otitis media	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000357	Abnormal location of ears	4	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0000598	HP:0008551	Microtia	4	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000598	HP:0009892	Anotia	4	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0000598	HP:0000357	Abnormal location of ears	4	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0008551	Microtia	4	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0000357	Abnormal location of ears	4	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0000598	HP:0008551	Microtia	4	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000598	HP:0009892	Anotia	4	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0000598	HP:0000357	Abnormal location of ears	4	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000598	HP:0008551	Microtia	4	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000598	HP:0000357	Abnormal location of ears	4	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0000598	HP:0000357	Abnormal location of ears	4	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000598	HP:0000405	Conductive hearing impairment	4	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000598	HP:0000405	Conductive hearing impairment	4	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040282 - Frequent		1003
HP:0000598	HP:0000403	Recurrent otitis media	4	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1003
HP:0000598	HP:0000405	Conductive hearing impairment	4	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		1003
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0000405	Conductive hearing impairment	4	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000598	HP:0000410	Mixed hearing impairment	4	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000357	Abnormal location of ears	4	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000598	HP:0011039	Abnormal helix morphology	4	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12			636
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12			636
HP:0000598	HP:0002321	Vertigo	4	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000598	HP:0002321	Vertigo	4	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000598	HP:0001756	Vestibular hypofunction	4	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000598	HP:0000405	Conductive hearing impairment	4	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0000598	HP:0000357	Abnormal location of ears	4	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000598	HP:0011039	Abnormal helix morphology	4	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000598	HP:0000405	Conductive hearing impairment	4	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive	HP:0040283 - Occasional		181
HP:0000598	HP:0000410	Mixed hearing impairment	4	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000598	HP:0011039	Abnormal helix morphology	4	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0000598	HP:0000357	Abnormal location of ears	4	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome			114
HP:0000598	HP:0000357	Abnormal location of ears	4	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0000598	HP:0000357	Abnormal location of ears	4	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000598	HP:0000357	Abnormal location of ears	4	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0000598	HP:0008551	Microtia	4	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000598	HP:0009892	Anotia	4	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0000598	HP:0000357	Abnormal location of ears	4	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0000598	HP:0008551	Microtia	4	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CEACAM16 CL E G H	388551	31948	OMIM:618410	DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113			30
HP:0000598	HP:0000400	Macrotia	4	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		20
HP:0000598	HP:0000357	Abnormal location of ears	4	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0000598	HP:0008551	Microtia	4	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		161
HP:0000598	HP:0000357	Abnormal location of ears	4	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0000598	HP:0000357	Abnormal location of ears	4	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0000598	HP:0000357	Abnormal location of ears	4	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0000598	HP:0000357	Abnormal location of ears	4	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000598	HP:0000400	Macrotia	4	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.		7
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		146
HP:0000598	HP:0000357	Abnormal location of ears	4	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000598	HP:0001757	High-frequency sensorineural hearing impairment	4	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000598	HP:0000357	Abnormal location of ears	4	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0000598	HP:0000357	Abnormal location of ears	4	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000598	HP:0000357	Abnormal location of ears	4	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0000598	HP:0000357	Abnormal location of ears	4	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0000598	HP:0000357	Abnormal location of ears	4	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000598	HP:0000357	Abnormal location of ears	4	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0000598	HP:0000357	Abnormal location of ears	4	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0000598	HP:0000357	Abnormal location of ears	4	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000598	HP:0100830	Round ear	4	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000598	HP:0001756	Vestibular hypofunction	4	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000598	HP:0000405	Conductive hearing impairment	4	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0000598	HP:0000389	Chronic otitis media	4	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000403	Recurrent otitis media	4	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0000598	HP:0000389	Chronic otitis media	4	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000389	Chronic otitis media	4	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0000598	HP:0000405	Conductive hearing impairment	4	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	HP:0040284 - Very rare
HP:0000598	HP:0000389	Chronic otitis media	4	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000357	Abnormal location of ears	4	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0000389	Chronic otitis media	4	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000598	HP:0000403	Recurrent otitis media	4	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000598	HP:0000403	Recurrent otitis media	4	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.		57
HP:0000598	HP:0000357	Abnormal location of ears	4	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0000598	HP:0000357	Abnormal location of ears	4	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	HP:0040283 - Occasional		11
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		11
HP:0000598	HP:0000357	Abnormal location of ears	4	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0000598	HP:0000378	Cupped ear	4	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.		14
HP:0000598	HP:0000357	Abnormal location of ears	4	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0000378	Cupped ear	4	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0008551	Microtia	4	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0000357	Abnormal location of ears	4	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0000357	Abnormal location of ears	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0000378	Cupped ear	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0000598	HP:0000394	Lop ear	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0000598	HP:0000405	Conductive hearing impairment	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000410	Mixed hearing impairment	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0000598	HP:0008551	Microtia	4	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		515
HP:0000598	HP:0008551	Microtia	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0000598	HP:0008572	External ear malformation	4	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		515
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0011039	Abnormal helix morphology	4	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia	.		515
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		515
HP:0000598	HP:0000357	Abnormal location of ears	4	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0000598	HP:0000357	Abnormal location of ears	4	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent		35
HP:0000598	HP:0008572	External ear malformation	4	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000598	HP:0000357	Abnormal location of ears	4	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0000598	HP:0000400	Macrotia	4	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0000598	HP:0000400	Macrotia	4	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional		52
HP:0000598	HP:0000411	Protruding ear	4	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional		52
HP:0000598	HP:0000357	Abnormal location of ears	4	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0000598	HP:0000357	Abnormal location of ears	4	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0000598	HP:0000405	Conductive hearing impairment	4	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		68
HP:0000598	HP:0000357	Abnormal location of ears	4	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000598	HP:0000405	Conductive hearing impairment	4	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0000598	HP:0004459	Exostosis of the external auditory canal	4	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0000598	HP:0000357	Abnormal location of ears	4	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0000598	HP:0000357	Abnormal location of ears	4	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000598	HP:0000411	Protruding ear	4	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0000598	HP:0000357	Abnormal location of ears	4	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000598	HP:0000400	Macrotia	4	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0000598	HP:0000411	Protruding ear	4	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0000598	HP:0008572	External ear malformation	4	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0000598	HP:0000357	Abnormal location of ears	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000598	HP:0008551	Microtia	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000598	HP:0009896	Abnormal antitragus morphology	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000598	HP:0008551	Microtia	4	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0000598	HP:0000357	Abnormal location of ears	4	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	4	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent		16
HP:0000598	HP:0012714	Severe hearing impairment	4	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0000357	Abnormal location of ears	4	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000598	HP:0011039	Abnormal helix morphology	4	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48			15
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	4	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48	.	HP:0003577 - Congenital onset	15
HP:0000598	HP:0012715	Profound hearing impairment	4	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48			15
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000598	HP:0001756	Vestibular hypofunction	4	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000598	HP:0000371	Acute otitis media	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional		118
HP:0000598	HP:0000357	Abnormal location of ears	4	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2			3
HP:0000598	HP:0000400	Macrotia	4	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.		15
HP:0000598	HP:0000411	Protruding ear	4	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2	.		6
HP:0000598	HP:0000357	Abnormal location of ears	4	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0000400	Macrotia	4	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0000598	HP:0000411	Protruding ear	4	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040284 - Very rare		9
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent		9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0000598	HP:0002321	Vertigo	4	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0000598	HP:0000411	Protruding ear	4	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040284 - Very rare		27
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent		27
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLDN14 CL E G H	23562	2035	OMIM:614035	Deafness, autosomal recessive 29	.		57
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLDN9 CL E G H	9080	2051	OMIM:619093	DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116
HP:0000598	HP:0000400	Macrotia	4	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0000598	HP:0000400	Macrotia	4	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0011039	Abnormal helix morphology	4	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103	.		1
HP:0000598	HP:0007670	Abnormal vestibulo-ocular reflex	4	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103			1
HP:0000598	HP:0000357	Abnormal location of ears	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3	.		13
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3	.		13
HP:0000598	HP:0000405	Conductive hearing impairment	4	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000598	HP:0001756	Vestibular hypofunction	4	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA	HP:0040282 - Frequent		60
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLRN2 CL E G H	645104	33939	OMIM:619174	DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000598	HP:0000411	Protruding ear	4	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.		1
HP:0000598	HP:0000405	Conductive hearing impairment	4	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0000598	HP:0000405	Conductive hearing impairment	4	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0000598	HP:0002321	Vertigo	4	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal	.		47
HP:0000598	HP:0000357	Abnormal location of ears	4	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0000405	Conductive hearing impairment	4	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.		2
HP:0000598	HP:0008551	Microtia	4	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000598	HP:0000357	Abnormal location of ears	4	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0000598	HP:0000357	Abnormal location of ears	4	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0000405	Conductive hearing impairment	4	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0000357	Abnormal location of ears	4	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0002321	Vertigo	4	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.		46
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COCH CL E G H	1690	2180	OMIM:618094	Deafness, autosomal recessive 110	.		46
HP:0000598	HP:0000357	Abnormal location of ears	4	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000598	HP:0008551	Microtia	4	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000598	HP:0000357	Abnormal location of ears	4	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000598	HP:0008551	Microtia	4	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000598	HP:0000357	Abnormal location of ears	4	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0000598	HP:0000357	Abnormal location of ears	4	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent		215
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		215
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A1 CL E G H	1301	2186	OMIM:618533	DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37			215
HP:0000598	HP:0000357	Abnormal location of ears	4	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0000598	HP:0000357	Abnormal location of ears	4	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0000598	HP:0000357	Abnormal location of ears	4	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000598	HP:0000403	Recurrent otitis media	4	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent		215
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A1 CL E G H	1301	2186	ORPHA:90654	Stickler syndrome type 2	HP:0040281 - Very frequent		215
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II			215
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		222
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A2 CL E G H	1302	2187	OMIM:601868	Deafness, autosomal dominant nonsyndromic sensorineural 13	.	HP:0003577 - Congenital onset	222
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A2 CL E G H	1302	2187	OMIM:609706	Deafness, autosomal recessive 53	.		222
HP:0000598	HP:0000357	Abnormal location of ears	4	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0000598	HP:0000357	Abnormal location of ears	4	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000405	Conductive hearing impairment	4	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		222
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.		222
HP:0000598	HP:0000410	Mixed hearing impairment	4	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.		222
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III	.		222
HP:0000598	HP:0000357	Abnormal location of ears	4	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19			6
HP:0000598	HP:0000357	Abnormal location of ears	4	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0000598	HP:0000405	Conductive hearing impairment	4	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000598	HP:0012712	Mild hearing impairment	4	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000598	HP:0012714	Severe hearing impairment	4	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome	HP:0040284 - Very rare		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		284
HP:0000598	HP:0000405	Conductive hearing impairment	4	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.		284
HP:0000598	HP:0000403	Recurrent otitis media	4	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0000598	HP:0000405	Conductive hearing impairment	4	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0000598	HP:0000357	Abnormal location of ears	4	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0000598	HP:0000357	Abnormal location of ears	4	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0000598	HP:0000357	Abnormal location of ears	4	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000598	HP:0000411	Protruding ear	4	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0000598	HP:0009896	Abnormal antitragus morphology	4	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0000598	HP:0011039	Abnormal helix morphology	4	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.		284
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040282 - Frequent		284
HP:0000598	HP:0000405	Conductive hearing impairment	4	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.		284
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0000598	HP:0000411	Protruding ear	4	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		749
HP:0000598	HP:0002321	Vertigo	4	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0000598	HP:0000357	Abnormal location of ears	4	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0000598	HP:0000411	Protruding ear	4	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		193
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.		161
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.		678
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		678
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		18
HP:0000598	HP:0000394	Lop ear	4	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.		660
HP:0000598	HP:0000411	Protruding ear	4	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0000598	HP:0000411	Protruding ear	4	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0000598	HP:0000411	Protruding ear	4	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional		263
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		110
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		110
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V	.		110
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		137
HP:0000598	HP:0000357	Abnormal location of ears	4	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0000598	HP:0000400	Macrotia	4	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0000598	HP:0030025	Auricular pit	4	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0000598	HP:0000357	Abnormal location of ears	4	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0000598	HP:0000400	Macrotia	4	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0000598	HP:0000357	Abnormal location of ears	4	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0000389	Chronic otitis media	4	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000405	Conductive hearing impairment	4	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		6
HP:0000598	HP:0011039	Abnormal helix morphology	4	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6	.		39
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000357	Abnormal location of ears	4	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000400	Macrotia	4	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000598	HP:0000357	Abnormal location of ears	4	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000405	Conductive hearing impairment	4	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000598	HP:0000405	Conductive hearing impairment	4	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000598	HP:0000357	Abnormal location of ears	4	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000389	Chronic otitis media	4	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000405	Conductive hearing impairment	4	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0008551	Microtia	4	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0011039	Abnormal helix morphology	4	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0000598	HP:0000357	Abnormal location of ears	4	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0000598	HP:0011039	Abnormal helix morphology	4	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0000598	HP:0000389	Chronic otitis media	4	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		10
HP:0000598	HP:0000403	Recurrent otitis media	4	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2			10
HP:0000598	HP:0000405	Conductive hearing impairment	4	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0000598	HP:0000405	Conductive hearing impairment	4	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.		4
HP:0000598	HP:0000357	Abnormal location of ears	4	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0000411	Protruding ear	4	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0400005	Short ear	4	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0011039	Abnormal helix morphology	4	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0000357	Abnormal location of ears	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000598	HP:0020206	Simple ear	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000598	HP:0000405	Conductive hearing impairment	4	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0000598	HP:0000357	Abnormal location of ears	4	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000598	HP:0000405	Conductive hearing impairment	4	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare		291
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000357	Abnormal location of ears	4	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0000598	HP:0000357	Abnormal location of ears	4	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000598	HP:0008551	Microtia	4	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000598	HP:0000357	Abnormal location of ears	4	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000598	HP:0000411	Protruding ear	4	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000405	Conductive hearing impairment	4	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		46
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CRYM CL E G H	1428	2418	OMIM:616357	DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40			15
HP:0000598	HP:0000357	Abnormal location of ears	4	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0000598	HP:0000357	Abnormal location of ears	4	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	HP:0040283 - Occasional		57
HP:0000598	HP:0000357	Abnormal location of ears	4	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000598	HP:0011039	Abnormal helix morphology	4	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000598	HP:0000357	Abnormal location of ears	4	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		104
HP:0000598	HP:0000357	Abnormal location of ears	4	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000389	Chronic otitis media	4	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000405	Conductive hearing impairment	4	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0008551	Microtia	4	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000598	HP:0000378	Cupped ear	4	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0000598	HP:0000357	Abnormal location of ears	4	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000598	HP:0008572	External ear malformation	4	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria	HP:0040283 - Occasional		38
HP:0000598	HP:0000389	Chronic otitis media	4	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		10
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		10
HP:0000598	HP:0002321	Vertigo	4	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		88
HP:0000598	HP:0000405	Conductive hearing impairment	4	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0000598	HP:0000357	Abnormal location of ears	4	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0000598	HP:0000405	Conductive hearing impairment	4	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000598	HP:0012712	Mild hearing impairment	4	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000598	HP:0000357	Abnormal location of ears	4	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0000598	HP:0000400	Macrotia	4	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.		1
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent		38
HP:0000598	HP:0000411	Protruding ear	4	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent		127
HP:0000598	HP:0000357	Abnormal location of ears	4	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0000598	HP:0000400	Macrotia	4	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000357	Abnormal location of ears	4	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000598	HP:0000400	Macrotia	4	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000598	HP:0000389	Chronic otitis media	4	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		54
HP:0000598	HP:0011039	Abnormal helix morphology	4	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent		54
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040284 - Very rare		57
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	HP:0040283 - Occasional		57
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37	HP:0040282 - Frequent		4
HP:0000598	HP:0008551	Microtia	4	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0008572	External ear malformation	4	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000598	HP:0009912	Abnormal tragus morphology	4	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0011039	Abnormal helix morphology	4	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000598	HP:0000378	Cupped ear	4	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.		2
HP:0000598	HP:0008551	Microtia	4	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2			2
HP:0000598	HP:0011039	Abnormal helix morphology	4	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2			2
HP:0000598	HP:0000357	Abnormal location of ears	4	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0000598	HP:0000411	Protruding ear	4	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		108
HP:0000598	HP:0002321	Vertigo	4	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional		80
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.		87
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0000598	HP:0000411	Protruding ear	4	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	HP:0040283 - Occasional		87
HP:0000598	HP:0000411	Protruding ear	4	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040283 - Occasional		36
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DCDC2 CL E G H	51473	18141	OMIM:610212	Deafness, autosomal recessive 66	.		8
HP:0000598	HP:0000405	Conductive hearing impairment	4	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		27
HP:0000598	HP:0008551	Microtia	4	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent		27
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0000598	HP:0000405	Conductive hearing impairment	4	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0000598	HP:0008551	Microtia	4	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000598	HP:0000357	Abnormal location of ears	4	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0000598	HP:0000357	Abnormal location of ears	4	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000598	HP:0000400	Macrotia	4	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000598	HP:0000403	Recurrent otitis media	4	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000598	HP:0020206	Simple ear	4	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		30
HP:0000598	HP:0000357	Abnormal location of ears	4	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0000405	Conductive hearing impairment	4	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	4	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0009797	Cholesteatoma	4	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0000378	Cupped ear	4	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.		13
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0000357	Abnormal location of ears	4	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000598	HP:0000357	Abnormal location of ears	4	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000598	HP:0011039	Abnormal helix morphology	4	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000598	HP:0000389	Chronic otitis media	4	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		33
HP:0000598	HP:0000405	Conductive hearing impairment	4	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		33
HP:0000598	HP:0000400	Macrotia	4	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.		6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		263
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000598	HP:0008615	Adult onset sensorineural hearing impairment	4	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040282 - Frequent		57
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.		57
HP:0000598	HP:0000357	Abnormal location of ears	4	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000598	HP:0000357	Abnormal location of ears	4	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent		72
HP:0000598	HP:0000378	Cupped ear	4	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000598	HP:0000357	Abnormal location of ears	4	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000357	Abnormal location of ears	4	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000403	Recurrent otitis media	4	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0000598	HP:0000405	Conductive hearing impairment	4	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.		47
HP:0000598	HP:0000357	Abnormal location of ears	4	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000357	Abnormal location of ears	4	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000378	Cupped ear	4	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent		59
HP:0000598	HP:0000378	Cupped ear	4	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.		59
HP:0000598	HP:0000405	Conductive hearing impairment	4	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040282 - Frequent		59
HP:0000598	HP:0000405	Conductive hearing impairment	4	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.		59
HP:0000598	HP:0008551	Microtia	4	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent		59
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000357	Abnormal location of ears	4	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000598	HP:0000357	Abnormal location of ears	4	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0020206	Simple ear	4	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0000357	Abnormal location of ears	4	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0000598	HP:0000411	Protruding ear	4	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000598	HP:0000405	Conductive hearing impairment	4	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64	.		11
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1	.		118
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1	.		8
HP:0000598	HP:0004454	Abnormal middle ear reflexes	4	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1			8
HP:0000598	HP:0000357	Abnormal location of ears	4	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0000598	HP:0000357	Abnormal location of ears	4	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0000598	HP:0011039	Abnormal helix morphology	4	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0000598	HP:0002321	Vertigo	4	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0000598	HP:0008615	Adult onset sensorineural hearing impairment	4	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0000598	HP:0000403	Recurrent otitis media	4	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional
HP:0000598	HP:0000357	Abnormal location of ears	4	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0008551	Microtia	4	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000403	Recurrent otitis media	4	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0000598	HP:0000403	Recurrent otitis media	4	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional		1
HP:0000598	HP:0000357	Abnormal location of ears	4	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000598	HP:0000357	Abnormal location of ears	4	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0000405	Conductive hearing impairment	4	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0000598	HP:0002321	Vertigo	4	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0008629	Pulsatile tinnitus	4	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1
HP:0000598	HP:0000405	Conductive hearing impairment	4	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		1
HP:0000598	HP:0000357	Abnormal location of ears	4	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0000598	HP:0000411	Protruding ear	4	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15	.		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss	.		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		1496
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.		48
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0000598	HP:0001730	Progressive hearing impairment	4	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.		3
HP:0000598	HP:0001730	Progressive hearing impairment	4	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.		116
HP:0000598	HP:0000389	Chronic otitis media	4	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		116
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		116
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		116
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0000598	HP:0000389	Chronic otitis media	4	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000389	Chronic otitis media	4	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0000598	HP:0000389	Chronic otitis media	4	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		78
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		78
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		78
HP:0000598	HP:0000389	Chronic otitis media	4	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		63
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		63
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		63
HP:0000598	HP:0000389	Chronic otitis media	4	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		27
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		27
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		27
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.		62
HP:0000598	HP:0000389	Chronic otitis media	4	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		62
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		62
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		62
HP:0000598	HP:0000389	Chronic otitis media	4	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000389	Chronic otitis media	4	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		21
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		21
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0000598	HP:0000389	Chronic otitis media	4	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		542
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		542
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		542
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0000598	HP:0000389	Chronic otitis media	4	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		527
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		527
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		527
HP:0000598	HP:0000389	Chronic otitis media	4	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		18
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		18
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		18
HP:0000598	HP:0000389	Chronic otitis media	4	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.		73
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.		73
HP:0000598	HP:0000389	Chronic otitis media	4	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		73
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		73
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		73
HP:0000598	HP:0000389	Chronic otitis media	4	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0000598	HP:0000389	Chronic otitis media	4	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		104
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		104
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		104
HP:0000598	HP:0000389	Chronic otitis media	4	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		2
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		2
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare		25
HP:0000598	HP:0000378	Cupped ear	4	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	.		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0000357	Abnormal location of ears	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000389	Chronic otitis media	4	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0000598	HP:0000389	Chronic otitis media	4	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		167
HP:0000598	HP:0000403	Recurrent otitis media	4	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		167
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		167
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		94
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040281 - Very frequent		145
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.		145
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.		145
HP:0000598	HP:0000405	Conductive hearing impairment	4	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional		44
HP:0000598	HP:0002321	Vertigo	4	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0000598	HP:0008629	Pulsatile tinnitus	4	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		44
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		79
HP:0000598	HP:0000357	Abnormal location of ears	4	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0000598	HP:0000357	Abnormal location of ears	4	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0000598	HP:0000403	Recurrent otitis media	4	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0000598	HP:0000357	Abnormal location of ears	4	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0000598	HP:0000411	Protruding ear	4	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	HP:0040283 - Occasional		18
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0000598	HP:0011039	Abnormal helix morphology	4	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0000598	HP:0000389	Chronic otitis media	4	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent		217
HP:0000598	HP:0000403	Recurrent otitis media	4	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive			217
HP:0000598	HP:0000357	Abnormal location of ears	4	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		55
HP:0000598	HP:0000357	Abnormal location of ears	4	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0000598	HP:0000357	Abnormal location of ears	4	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000598	HP:0000400	Macrotia	4	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000598	HP:0000403	Recurrent otitis media	4	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000598	HP:0000357	Abnormal location of ears	4	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0000598	HP:0012712	Mild hearing impairment	4	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000357	Abnormal location of ears	4	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0000598	HP:0000357	Abnormal location of ears	4	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000598	HP:0000411	Protruding ear	4	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040283 - Occasional		18
HP:0000598	HP:0400004	Long ear	4	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000598	HP:0000400	Macrotia	4	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000598	HP:0000403	Recurrent otitis media	4	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21			44
HP:0000598	HP:0000389	Chronic otitis media	4	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		44
HP:0000598	HP:0000403	Recurrent otitis media	4	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		44
HP:0000598	HP:0000405	Conductive hearing impairment	4	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		44
HP:0000598	HP:0000411	Protruding ear	4	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0000598	HP:0000357	Abnormal location of ears	4	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000598	HP:0000400	Macrotia	4	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0000598	HP:0000411	Protruding ear	4	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0000598	HP:0008572	External ear malformation	4	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		358
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		747
HP:0000598	HP:0011039	Abnormal helix morphology	4	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		747
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1			38
HP:0000598	HP:0005101	High-frequency hearing impairment	4	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	.		38
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	.		38
HP:0000598	HP:0000357	Abnormal location of ears	4	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040284 - Very rare		121
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040284 - Very rare		11
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000598	HP:0000357	Abnormal location of ears	4	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0000598	HP:0000405	Conductive hearing impairment	4	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	HP:0040283 - Occasional		14
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	HP:0040283 - Occasional		14
HP:0000598	HP:0000410	Mixed hearing impairment	4	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000598	HP:0000357	Abnormal location of ears	4	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000598	HP:0000357	Abnormal location of ears	4	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000598	HP:0000357	Abnormal location of ears	4	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0000598	HP:0000411	Protruding ear	4	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0000598	HP:0000411	Protruding ear	4	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0000598	HP:0000400	Macrotia	4	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0000598	HP:0011039	Abnormal helix morphology	4	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0000598	HP:0000357	Abnormal location of ears	4	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0000598	HP:0000357	Abnormal location of ears	4	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0011039	Abnormal helix morphology	4	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0000357	Abnormal location of ears	4	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0000598	HP:0000357	Abnormal location of ears	4	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0000598	HP:0000357	Abnormal location of ears	4	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040283 - Occasional		51
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		13
HP:0000598	HP:0000357	Abnormal location of ears	4	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0000598	HP:0000378	Cupped ear	4	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.		13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50	HP:0040283 - Occasional		1
HP:0000598	HP:0000357	Abnormal location of ears	4	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000598	HP:0000411	Protruding ear	4	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000598	HP:0011039	Abnormal helix morphology	4	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000598	HP:0000357	Abnormal location of ears	4	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0000598	HP:0008572	External ear malformation	4	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent		6
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0011039	Abnormal helix morphology	4	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0000598	HP:0030022	Question mark ear	4	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	HP:0040283 - Occasional		6
HP:0000598	HP:0000405	Conductive hearing impairment	4	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3			6
HP:0000598	HP:0030022	Question mark ear	4	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	.		6
HP:0000598	HP:0030022	Question mark ear	4	EDN1 CL E G H	1906	3176	OMIM:612798	Question mark ears, isolated	.		6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		67
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.		67
HP:0000598	HP:0000357	Abnormal location of ears	4	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0000378	Cupped ear	4	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.		3
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.		3
HP:0000598	HP:0000405	Conductive hearing impairment	4	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.		3
HP:0000598	HP:0000411	Protruding ear	4	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.		3
HP:0000598	HP:0008551	Microtia	4	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		55
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		55
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0000598	HP:0000357	Abnormal location of ears	4	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0000598	HP:0000400	Macrotia	4	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0000598	HP:0400004	Long ear	4	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.		4
HP:0000598	HP:0000357	Abnormal location of ears	4	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0000598	HP:0000400	Macrotia	4	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0000598	HP:0000357	Abnormal location of ears	4	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0000598	HP:0000357	Abnormal location of ears	4	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0000598	HP:0000357	Abnormal location of ears	4	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0000598	HP:0000357	Abnormal location of ears	4	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0000405	Conductive hearing impairment	4	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0000598	HP:0008551	Microtia	4	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0011039	Abnormal helix morphology	4	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0000357	Abnormal location of ears	4	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0000405	Conductive hearing impairment	4	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040283 - Occasional		48
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent		48
HP:0000598	HP:0008551	Microtia	4	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0000598	HP:0009912	Abnormal tragus morphology	4	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0011039	Abnormal helix morphology	4	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0410017	Otitis externa	4	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent		257
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0000598	HP:0000400	Macrotia	4	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0000598	HP:0000357	Abnormal location of ears	4	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67	HP:0040284 - Very rare
HP:0000598	HP:0000357	Abnormal location of ears	4	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0000598	HP:0000411	Protruding ear	4	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.		4
HP:0000598	HP:0000357	Abnormal location of ears	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0000378	Cupped ear	4	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0000405	Conductive hearing impairment	4	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0400004	Long ear	4	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0008551	Microtia	4	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0000405	Conductive hearing impairment	4	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ELMOD3 CL E G H	84173	26158	OMIM:619500	DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81			1
HP:0000598	HP:0000405	Conductive hearing impairment	4	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0000410	Mixed hearing impairment	4	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0000357	Abnormal location of ears	4	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0000598	HP:0000411	Protruding ear	4	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0000598	HP:0000357	Abnormal location of ears	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0000389	Chronic otitis media	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0000598	HP:0000400	Macrotia	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0000598	HP:0000411	Protruding ear	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0000403	Recurrent otitis media	4	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0000598	HP:0000405	Conductive hearing impairment	4	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0000598	HP:0000410	Mixed hearing impairment	4	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000598	HP:0000357	Abnormal location of ears	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000598	HP:0020206	Simple ear	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000598	HP:0000357	Abnormal location of ears	4	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0000598	HP:0011039	Abnormal helix morphology	4	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0000598	HP:0000357	Abnormal location of ears	4	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000598	HP:0000405	Conductive hearing impairment	4	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare		250
HP:0000598	HP:0000405	Conductive hearing impairment	4	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional		112
HP:0000598	HP:0002321	Vertigo	4	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0000598	HP:0008629	Pulsatile tinnitus	4	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		112
HP:0000598	HP:0000357	Abnormal location of ears	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040283 - Occasional		40
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	HP:0040283 - Occasional		40
HP:0000598	HP:0002321	Vertigo	4	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040281 - Very frequent		43
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	HP:0040284 - Very rare
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0000598	HP:0012715	Profound hearing impairment	4	EPS8 CL E G H	2059	3420	OMIM:615974	Deafness, autosomal recessive 102			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6			1
HP:0000598	HP:0002321	Vertigo	4	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		77
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2			77
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		12
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0000598	HP:0000357	Abnormal location of ears	4	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0000598	HP:0000400	Macrotia	4	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		20
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		106
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000598	HP:0000411	Protruding ear	4	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000598	HP:0000400	Macrotia	4	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0000598	HP:0000411	Protruding ear	4	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	HP:0040283 - Occasional		106
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		106
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000598	HP:0000411	Protruding ear	4	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		54
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.		54
HP:0000598	HP:0000400	Macrotia	4	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0000598	HP:0008572	External ear malformation	4	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0000598	HP:0000357	Abnormal location of ears	4	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		158
HP:0000598	HP:0000357	Abnormal location of ears	4	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		83
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		83
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0000598	HP:0000400	Macrotia	4	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0000598	HP:0000400	Macrotia	4	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0000598	HP:0000400	Macrotia	4	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0000598	HP:0000405	Conductive hearing impairment	4	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000598	HP:0008615	Adult onset sensorineural hearing impairment	4	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0000598	HP:0000400	Macrotia	4	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0000598	HP:0000400	Macrotia	4	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0000598	HP:0000400	Macrotia	4	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0000598	HP:0000405	Conductive hearing impairment	4	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000598	HP:0008615	Adult onset sensorineural hearing impairment	4	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		55
HP:0000598	HP:0000405	Conductive hearing impairment	4	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent		12
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000598	HP:0000357	Abnormal location of ears	4	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000598	HP:0000357	Abnormal location of ears	4	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0000598	HP:0008572	External ear malformation	4	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent		92
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement	.	HP:0003593 - Infantile onset	33
HP:0000598	HP:0007670	Abnormal vestibulo-ocular reflex	4	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement			33
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000598	HP:0001756	Vestibular hypofunction	4	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ESRRB CL E G H	2103	3473	OMIM:608565	DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35			78
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040282 - Frequent		209
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040282 - Frequent		137
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0000598	HP:0000357	Abnormal location of ears	4	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000598	HP:0020206	Simple ear	4	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000598	HP:0000357	Abnormal location of ears	4	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000598	HP:0000357	Abnormal location of ears	4	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000598	HP:0000357	Abnormal location of ears	4	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000598	HP:0000357	Abnormal location of ears	4	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000598	HP:0000405	Conductive hearing impairment	4	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional		96
HP:0000598	HP:0000411	Protruding ear	4	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		96
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0008572	External ear malformation	4	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0000405	Conductive hearing impairment	4	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0000357	Abnormal location of ears	4	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000378	Cupped ear	4	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000598	HP:0000405	Conductive hearing impairment	4	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000598	HP:0000410	Mixed hearing impairment	4	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000598	HP:0008551	Microtia	4	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000378	Cupped ear	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000405	Conductive hearing impairment	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000410	Mixed hearing impairment	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0008551	Microtia	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0009797	Cholesteatoma	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.		135
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000378	Cupped ear	4	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000400	Macrotia	4	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		135
HP:0000598	HP:0000405	Conductive hearing impairment	4	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		135
HP:0000598	HP:0000405	Conductive hearing impairment	4	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome	.		135
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000410	Mixed hearing impairment	4	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000411	Protruding ear	4	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		135
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040283 - Occasional		135
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EYA4 CL E G H	2070	3522	OMIM:601316	Deafness, autosomal dominant nonsyndromic sensorineural 10	.		111
HP:0000598	HP:0000405	Conductive hearing impairment	4	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0000598	HP:0000357	Abnormal location of ears	4	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0000598	HP:0000400	Macrotia	4	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0000598	HP:0000400	Macrotia	4	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000598	HP:0000357	Abnormal location of ears	4	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000405	Conductive hearing impairment	4	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0000598	HP:0000357	Abnormal location of ears	4	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0000598	HP:0000357	Abnormal location of ears	4	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0000405	Conductive hearing impairment	4	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0000598	HP:0000410	Mixed hearing impairment	4	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0000598	HP:0000411	Protruding ear	4	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0000598	HP:0008572	External ear malformation	4	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0000598	HP:0008572	External ear malformation	4	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0000598	HP:0000357	Abnormal location of ears	4	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0000598	HP:0011039	Abnormal helix morphology	4	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0000598	HP:0008551	Microtia	4	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0000598	HP:0009892	Anotia	4	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional		58
HP:0000598	HP:0008572	External ear malformation	4	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0000598	HP:0008572	External ear malformation	4	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0000598	HP:0000357	Abnormal location of ears	4	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000598	HP:0008572	External ear malformation	4	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000598	HP:0008572	External ear malformation	4	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0000598	HP:0000405	Conductive hearing impairment	4	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0008551	Microtia	4	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0008572	External ear malformation	4	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000598	HP:0008572	External ear malformation	4	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0000598	HP:0000405	Conductive hearing impairment	4	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0000598	HP:0008572	External ear malformation	4	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0000598	HP:0000357	Abnormal location of ears	4	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0000598	HP:0008551	Microtia	4	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional		53
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0000598	HP:0009892	Anotia	4	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0000598	HP:0008572	External ear malformation	4	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0000598	HP:0000400	Macrotia	4	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional		7
HP:0000598	HP:0000400	Macrotia	4	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0000598	HP:0002321	Vertigo	4	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		59
HP:0000598	HP:0000405	Conductive hearing impairment	4	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		114
HP:0000598	HP:0008551	Microtia	4	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent		114
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0000598	HP:0008551	Microtia	4	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000598	HP:0000357	Abnormal location of ears	4	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0000598	HP:0000405	Conductive hearing impairment	4	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0000598	HP:0008572	External ear malformation	4	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		114
HP:0000598	HP:0000405	Conductive hearing impairment	4	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0000598	HP:0008551	Microtia	4	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000598	HP:0000357	Abnormal location of ears	4	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0000598	HP:0000411	Protruding ear	4	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0000598	HP:0000357	Abnormal location of ears	4	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0000598	HP:0009901	Crumpled ear	4	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent		1361
HP:0000598	HP:0000357	Abnormal location of ears	4	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000598	HP:0000405	Conductive hearing impairment	4	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0000598	HP:0000411	Protruding ear	4	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional		1361
HP:0000598	HP:0011039	Abnormal helix morphology	4	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000598	HP:0009901	Crumpled ear	4	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0000598	HP:0011039	Abnormal helix morphology	4	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0000598	HP:0009901	Crumpled ear	4	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0000598	HP:0000411	Protruding ear	4	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0000598	HP:0000357	Abnormal location of ears	4	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000598	HP:0008551	Microtia	4	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000598	HP:0000378	Cupped ear	4	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		37
HP:0000598	HP:0000405	Conductive hearing impairment	4	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0000410	Mixed hearing impairment	4	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0000403	Recurrent otitis media	4	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20			4
HP:0000598	HP:0000357	Abnormal location of ears	4	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000598	HP:0000400	Macrotia	4	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000357	Abnormal location of ears	4	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0000598	HP:0008572	External ear malformation	4	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent		62
HP:0000598	HP:0000357	Abnormal location of ears	4	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000378	Cupped ear	4	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000378	Cupped ear	4	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.		17
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000410	Mixed hearing impairment	4	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000410	Mixed hearing impairment	4	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.		17
HP:0000598	HP:0008551	Microtia	4	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		17
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000598	HP:0007670	Abnormal vestibulo-ocular reflex	4	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.		47
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		3
HP:0000598	HP:0000357	Abnormal location of ears	4	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040281 - Very frequent		18
HP:0000598	HP:0008551	Microtia	4	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040281 - Very frequent		18
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000598	HP:0011372	Aplasia of the inner ear	4	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040281 - Very frequent		18
HP:0000598	HP:0000357	Abnormal location of ears	4	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0008551	Microtia	4	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0011372	Aplasia of the inner ear	4	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.		18
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	4	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.	HP:0003577 - Congenital onset	18
HP:0000598	HP:0012715	Profound hearing impairment	4	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040281 - Very frequent		18
HP:0000598	HP:0001730	Progressive hearing impairment	4	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000598	HP:0001757	High-frequency sensorineural hearing impairment	4	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent		18
HP:0000598	HP:0031353	Otitis media with effusion	4	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040283 - Occasional		18
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia			17
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		17
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome	HP:0040281 - Very frequent		75
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome			172
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.		172
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		172
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0000598	HP:0000411	Protruding ear	4	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040282 - Frequent		172
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1			172
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		172
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		175
HP:0000598	HP:0000389	Chronic otitis media	4	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.		175
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040281 - Very frequent		175
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent		175
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.		175
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.		175
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0000598	HP:0000400	Macrotia	4	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent		175
HP:0000598	HP:0011039	Abnormal helix morphology	4	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0000598	HP:0011039	Abnormal helix morphology	4	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000378	Cupped ear	4	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.		175
HP:0000598	HP:0000378	Cupped ear	4	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000410	Mixed hearing impairment	4	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.		175
HP:0000598	HP:0000410	Mixed hearing impairment	4	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0008551	Microtia	4	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		175
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1			175
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent		175
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent		175
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0008551	Microtia	4	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.		175
HP:0000598	HP:0008551	Microtia	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		175
HP:0000598	HP:0008572	External ear malformation	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		175
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		175
HP:0000598	HP:0011039	Abnormal helix morphology	4	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0011039	Abnormal helix morphology	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0000403	Recurrent otitis media	4	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.		145
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.		145
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.		145
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent		145
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000378	Cupped ear	4	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:0000378	Cupped ear	4	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.		145
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:0000410	Mixed hearing impairment	4	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.		145
HP:0000598	HP:0000410	Mixed hearing impairment	4	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:0008551	Microtia	4	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		145
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000598	HP:0000403	Recurrent otitis media	4	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent		145
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.		145
HP:0000598	HP:0000357	Abnormal location of ears	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0008551	Microtia	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		145
HP:0000598	HP:0008572	External ear malformation	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		145
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		145
HP:0000598	HP:0011039	Abnormal helix morphology	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		301
HP:0000598	HP:0002321	Vertigo	4	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000598	HP:0008629	Pulsatile tinnitus	4	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		301
HP:0000598	HP:0000357	Abnormal location of ears	4	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		36
HP:0000598	HP:0000400	Macrotia	4	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000411	Protruding ear	4	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000400	Macrotia	4	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000357	Abnormal location of ears	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0000598	HP:0000357	Abnormal location of ears	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0000378	Cupped ear	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0000411	Protruding ear	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0008551	Microtia	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0002321	Vertigo	4	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0000598	HP:0000405	Conductive hearing impairment	4	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040284 - Very rare		13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0000598	HP:0000410	Mixed hearing impairment	4	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040284 - Very rare		13
HP:0000598	HP:0001757	High-frequency sensorineural hearing impairment	4	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.		13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040281 - Very frequent		13
HP:0000598	HP:0000357	Abnormal location of ears	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0000598	HP:0008551	Microtia	4	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000598	HP:0000357	Abnormal location of ears	4	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0000598	HP:0000411	Protruding ear	4	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		157
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		184
HP:0000598	HP:0000357	Abnormal location of ears	4	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0000598	HP:0008551	Microtia	4	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000598	HP:0000357	Abnormal location of ears	4	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0000598	HP:0000411	Protruding ear	4	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		184
HP:0000598	HP:0000357	Abnormal location of ears	4	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000598	HP:0002321	Vertigo	4	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0000598	HP:0000389	Chronic otitis media	4	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2	.		493
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0000598	HP:0000405	Conductive hearing impairment	4	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0000598	HP:0000410	Mixed hearing impairment	4	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		493
HP:0000598	HP:0000357	Abnormal location of ears	4	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked			493
HP:0000598	HP:0000400	Macrotia	4	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0000598	HP:0000403	Recurrent otitis media	4	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0000598	HP:0000357	Abnormal location of ears	4	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0000598	HP:0000405	Conductive hearing impairment	4	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0000598	HP:0000357	Abnormal location of ears	4	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0000598	HP:0000405	Conductive hearing impairment	4	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0000598	HP:0000357	Abnormal location of ears	4	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0000598	HP:0000357	Abnormal location of ears	4	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0000598	HP:0000357	Abnormal location of ears	4	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0000598	HP:0000405	Conductive hearing impairment	4	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040283 - Occasional		233
HP:0000598	HP:0000405	Conductive hearing impairment	4	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0000598	HP:0000405	Conductive hearing impairment	4	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0000598	HP:0000410	Mixed hearing impairment	4	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000400	Macrotia	4	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.		30
HP:0000598	HP:0000389	Chronic otitis media	4	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040281 - Very frequent		30
HP:0000598	HP:0000411	Protruding ear	4	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040282 - Frequent		30
HP:0000598	HP:0000400	Macrotia	4	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare		30
HP:0000598	HP:0000403	Recurrent otitis media	4	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare		30
HP:0000598	HP:0000357	Abnormal location of ears	4	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000598	HP:0000411	Protruding ear	4	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0000598	HP:0009896	Abnormal antitragus morphology	4	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0000598	HP:0011039	Abnormal helix morphology	4	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000598	HP:0000403	Recurrent otitis media	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000598	HP:0009797	Cholesteatoma	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.		63
HP:0000598	HP:0000357	Abnormal location of ears	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0000598	HP:0000411	Protruding ear	4	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent		177
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent		177
HP:0000598	HP:0000411	Protruding ear	4	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct	.		33
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct			33
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		33
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0000598	HP:0002321	Vertigo	4	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		33
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.		33
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0000389	Chronic otitis media	4	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000378	Cupped ear	4	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.		92
HP:0000598	HP:0000357	Abnormal location of ears	4	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000598	HP:0000403	Recurrent otitis media	4	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent		184
HP:0000598	HP:0011039	Abnormal helix morphology	4	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0000598	HP:0011039	Abnormal helix morphology	4	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0000598	HP:0000357	Abnormal location of ears	4	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000598	HP:0000357	Abnormal location of ears	4	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000598	HP:0000378	Cupped ear	4	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0000598	HP:0000405	Conductive hearing impairment	4	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0000598	HP:0000405	Conductive hearing impairment	4	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		353
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		353
HP:0000598	HP:0008572	External ear malformation	4	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent		353
HP:0000598	HP:0011039	Abnormal helix morphology	4	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000598	HP:0000357	Abnormal location of ears	4	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0000598	HP:0011039	Abnormal helix morphology	4	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0000598	HP:0000357	Abnormal location of ears	4	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000598	HP:0000405	Conductive hearing impairment	4	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		263
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		263
HP:0000598	HP:0008572	External ear malformation	4	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent		263
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.		1
HP:0000598	HP:0000357	Abnormal location of ears	4	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0000598	HP:0000411	Protruding ear	4	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0000598	HP:0000357	Abnormal location of ears	4	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0000598	HP:0000405	Conductive hearing impairment	4	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0000598	HP:0000400	Macrotia	4	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		105
HP:0000598	HP:0007670	Abnormal vestibulo-ocular reflex	4	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0000598	HP:0000357	Abnormal location of ears	4	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GAB1 CL E G H	2549	4066	OMIM:605428	Deafness, autosomal recessive 26	.		1
HP:0000598	HP:0000357	Abnormal location of ears	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0000405	Conductive hearing impairment	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0008551	Microtia	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0000357	Abnormal location of ears	4	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare		23
HP:0000598	HP:0000357	Abnormal location of ears	4	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0000405	Conductive hearing impairment	4	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000598	HP:0000403	Recurrent otitis media	4	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41			1
HP:0000598	HP:0000389	Chronic otitis media	4	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		1
HP:0000598	HP:0000403	Recurrent otitis media	4	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		1
HP:0000598	HP:0000405	Conductive hearing impairment	4	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		1
HP:0000598	HP:0000403	Recurrent otitis media	4	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0000598	HP:0000405	Conductive hearing impairment	4	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33			9
HP:0000598	HP:0000389	Chronic otitis media	4	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		9
HP:0000598	HP:0000403	Recurrent otitis media	4	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		9
HP:0000598	HP:0000405	Conductive hearing impairment	4	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		9
HP:0000598	HP:0000357	Abnormal location of ears	4	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0000598	HP:0008551	Microtia	4	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0000598	HP:0000405	Conductive hearing impairment	4	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.		29
HP:0000598	HP:0008551	Microtia	4	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.		29
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000598	HP:0000389	Chronic otitis media	4	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent		137
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent		137
HP:0000598	HP:0002321	Vertigo	4	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent		137
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040280 - Obligate		83
HP:0000598	HP:0001730	Progressive hearing impairment	4	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0000598	HP:0000357	Abnormal location of ears	4	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0000598	HP:0008572	External ear malformation	4	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent		87
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		35
HP:0000598	HP:0000357	Abnormal location of ears	4	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000598	HP:0000357	Abnormal location of ears	4	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000598	HP:0008551	Microtia	4	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040283 - Occasional		30
HP:0000598	HP:0002321	Vertigo	4	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		115
HP:0000598	HP:0002321	Vertigo	4	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0000598	HP:0011039	Abnormal helix morphology	4	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000598	HP:0000405	Conductive hearing impairment	4	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome	HP:0040281 - Very frequent		52
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040282 - Frequent		52
HP:0000598	HP:0000405	Conductive hearing impairment	4	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0000410	Mixed hearing impairment	4	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4			64
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		59
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent		14
HP:0000598	HP:0001730	Progressive hearing impairment	4	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay			14
HP:0000598	HP:0000357	Abnormal location of ears	4	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0000598	HP:0001730	Progressive hearing impairment	4	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15			40
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15			40
HP:0000598	HP:0009900	Unilateral deafness	4	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0000598	HP:0000405	Conductive hearing impairment	4	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional		68
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional		68
HP:0000598	HP:0000405	Conductive hearing impairment	4	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0000598	HP:0000410	Mixed hearing impairment	4	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.		68
HP:0000598	HP:0000411	Protruding ear	4	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		68
HP:0000598	HP:0000405	Conductive hearing impairment	4	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0000598	HP:0000405	Conductive hearing impairment	4	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0000598	HP:0008572	External ear malformation	4	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0000598	HP:0000357	Abnormal location of ears	4	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000598	HP:0000357	Abnormal location of ears	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0000411	Protruding ear	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0020206	Simple ear	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0000357	Abnormal location of ears	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0000411	Protruding ear	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0020206	Simple ear	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	HP:0040283 - Occasional		107
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	OMIM:601544	Deafness, autosomal dominant nonsyndromic sensorineural 3	.		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A	.		199
HP:0000598	HP:0000405	Conductive hearing impairment	4	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2	.		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2	.		199
HP:0000598	HP:0000410	Mixed hearing impairment	4	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0001730	Progressive hearing impairment	4	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040281 - Very frequent		199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		199
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000598	HP:0012714	Severe hearing impairment	4	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000598	HP:0000405	Conductive hearing impairment	4	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	HP:0040281 - Very frequent		199
HP:0000598	HP:0000410	Mixed hearing impairment	4	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome	HP:0040281 - Very frequent		199
HP:0000598	HP:0005101	High-frequency hearing impairment	4	GJB3 CL E G H	2707	4285	OMIM:612644	Deafness, autosomal dominant 2B	.		74
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A	.		74
HP:0000598	HP:0000411	Protruding ear	4	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		74
HP:0000598	HP:0000411	Protruding ear	4	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		12
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB6 CL E G H	10804	4288	OMIM:612643	Deafness, autosomal dominant 3B			56
HP:0000598	HP:0008615	Adult onset sensorineural hearing impairment	4	GJB6 CL E G H	10804	4288	OMIM:612643	Deafness, autosomal dominant 3B	.		56
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A	.		56
HP:0000598	HP:0000405	Conductive hearing impairment	4	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2	.		56
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2	.		56
HP:0000598	HP:0000410	Mixed hearing impairment	4	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0001730	Progressive hearing impairment	4	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		56
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	4	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000598	HP:0012714	Severe hearing impairment	4	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040282 - Frequent		37
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	HP:0040282 - Frequent		37
HP:0000598	HP:0000357	Abnormal location of ears	4	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0000598	HP:0002321	Vertigo	4	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0000598	HP:0000357	Abnormal location of ears	4	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000598	HP:0000400	Macrotia	4	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional		120
HP:0000598	HP:0000357	Abnormal location of ears	4	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0000598	HP:0000357	Abnormal location of ears	4	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000598	HP:0000400	Macrotia	4	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000598	HP:0009912	Abnormal tragus morphology	4	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional		270
HP:0000598	HP:0000357	Abnormal location of ears	4	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0000598	HP:0000357	Abnormal location of ears	4	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent		270
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare		270
HP:0000598	HP:0008551	Microtia	4	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent		270
HP:0000598	HP:0008551	Microtia	4	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare		270
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0000598	HP:0030021	Auricular tag	4	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV	.		270
HP:0000598	HP:0000357	Abnormal location of ears	4	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional		143
HP:0000598	HP:0000403	Recurrent otitis media	4	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000598	HP:0000357	Abnormal location of ears	4	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	HP:0040283 - Occasional		6
HP:0000598	HP:0000357	Abnormal location of ears	4	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0008551	Microtia	4	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000598	HP:0009892	Anotia	4	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0000357	Abnormal location of ears	4	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0000405	Conductive hearing impairment	4	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0008551	Microtia	4	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		24
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.		34
HP:0000598	HP:0000357	Abnormal location of ears	4	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0000598	HP:0008572	External ear malformation	4	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0011039	Abnormal helix morphology	4	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0000598	HP:0030022	Question mark ear	4	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000357	Abnormal location of ears	4	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000598	HP:0000378	Cupped ear	4	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000598	HP:0011039	Abnormal helix morphology	4	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0000598	HP:0011039	Abnormal helix morphology	4	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000598	HP:0000357	Abnormal location of ears	4	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0011039	Abnormal helix morphology	4	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0000357	Abnormal location of ears	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000598	HP:0000389	Chronic otitis media	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000598	HP:0000400	Macrotia	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000598	HP:0000403	Recurrent otitis media	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000598	HP:0000357	Abnormal location of ears	4	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0000598	HP:0000357	Abnormal location of ears	4	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0000598	HP:0000403	Recurrent otitis media	4	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0000598	HP:0000405	Conductive hearing impairment	4	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent		240
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040284 - Very rare		240
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		15
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		92
HP:0000598	HP:0000357	Abnormal location of ears	4	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000598	HP:0000403	Recurrent otitis media	4	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000598	HP:0000357	Abnormal location of ears	4	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000598	HP:0000400	Macrotia	4	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		23
HP:0000598	HP:0000357	Abnormal location of ears	4	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0000389	Chronic otitis media	4	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		8
HP:0000598	HP:0000405	Conductive hearing impairment	4	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		8
HP:0000598	HP:0011039	Abnormal helix morphology	4	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		8
HP:0000598	HP:0000357	Abnormal location of ears	4	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0000598	HP:0011039	Abnormal helix morphology	4	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000598	HP:0011039	Abnormal helix morphology	4	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000598	HP:0000357	Abnormal location of ears	4	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000598	HP:0011039	Abnormal helix morphology	4	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000598	HP:0011039	Abnormal helix morphology	4	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000598	HP:0000357	Abnormal location of ears	4	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0000598	HP:0000357	Abnormal location of ears	4	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0000598	HP:0000400	Macrotia	4	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	4	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0000598	HP:0012714	Severe hearing impairment	4	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0000598	HP:0000357	Abnormal location of ears	4	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0000598	HP:0000357	Abnormal location of ears	4	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0000598	HP:0000357	Abnormal location of ears	4	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GRAP CL E G H	10750	4562	OMIM:618456	Deafness, autosomal recessive 114
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0000357	Abnormal location of ears	4	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GRHL2 CL E G H	79977	2799	OMIM:608641	Deafness, autosomal dominant nonsyndromic sensorineural 28	.		33
HP:0000598	HP:0000403	Recurrent otitis media	4	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040283 - Occasional		12
HP:0000598	HP:0000405	Conductive hearing impairment	4	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040283 - Occasional		12
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0000598	HP:0000400	Macrotia	4	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0000598	HP:0000400	Macrotia	4	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0000598	HP:0000357	Abnormal location of ears	4	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000598	HP:0000405	Conductive hearing impairment	4	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		80
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		80
HP:0000598	HP:0008572	External ear malformation	4	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent		80
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25			36
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25			36
HP:0000598	HP:0001730	Progressive hearing impairment	4	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25			36
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101			3
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101	.		3
HP:0000598	HP:0000405	Conductive hearing impairment	4	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5			87
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5	.		87
HP:0000598	HP:0001730	Progressive hearing impairment	4	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5			87
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000598	HP:0000411	Protruding ear	4	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000411	Protruding ear	4	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000598	HP:0000357	Abnormal location of ears	4	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0000598	HP:0000357	Abnormal location of ears	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000389	Chronic otitis media	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000400	Macrotia	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000411	Protruding ear	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000389	Chronic otitis media	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000400	Macrotia	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000411	Protruding ear	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000389	Chronic otitis media	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000400	Macrotia	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000411	Protruding ear	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0000598	HP:0000411	Protruding ear	4	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0000598	HP:0000405	Conductive hearing impairment	4	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0000598	HP:0000403	Recurrent otitis media	4	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000598	HP:0002321	Vertigo	4	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent		18
HP:0000598	HP:0000411	Protruding ear	4	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		4
HP:0000598	HP:0011039	Abnormal helix morphology	4	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000598	HP:0000357	Abnormal location of ears	4	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000598	HP:0000403	Recurrent otitis media	4	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000598	HP:0000357	Abnormal location of ears	4	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0000403	Recurrent otitis media	4	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0011039	Abnormal helix morphology	4	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0000357	Abnormal location of ears	4	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		2
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000598	HP:0001756	Vestibular hypofunction	4	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2			29
HP:0000598	HP:0000405	Conductive hearing impairment	4	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0000598	HP:0000357	Abnormal location of ears	4	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0000598	HP:0000357	Abnormal location of ears	4	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0000598	HP:0000405	Conductive hearing impairment	4	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040283 - Occasional		33
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	HP:0040283 - Occasional		33
HP:0000598	HP:0000400	Macrotia	4	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000598	HP:0000357	Abnormal location of ears	4	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0000598	HP:0000357	Abnormal location of ears	4	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0000598	HP:0000357	Abnormal location of ears	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0000400	Macrotia	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0000598	HP:0000405	Conductive hearing impairment	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		37
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		37
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0000598	HP:0008551	Microtia	4	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0000598	HP:0000357	Abnormal location of ears	4	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000598	HP:0000411	Protruding ear	4	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000598	HP:0000400	Macrotia	4	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000598	HP:0000357	Abnormal location of ears	4	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0000598	HP:0000403	Recurrent otitis media	4	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000598	HP:0000357	Abnormal location of ears	4	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0000598	HP:0000400	Macrotia	4	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0000598	HP:0000357	Abnormal location of ears	4	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0000598	HP:0000400	Macrotia	4	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0000598	HP:0000357	Abnormal location of ears	4	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		21
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		21
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39			39
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39			39
HP:0000598	HP:0000405	Conductive hearing impairment	4	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0000598	HP:0000400	Macrotia	4	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0000389	Chronic otitis media	4	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0000405	Conductive hearing impairment	4	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0011039	Abnormal helix morphology	4	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000598	HP:0008551	Microtia	4	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000598	HP:0002321	Vertigo	4	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0000598	HP:0000405	Conductive hearing impairment	4	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000598	HP:0002321	Vertigo	4	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000598	HP:0000389	Chronic otitis media	4	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000598	HP:0000389	Chronic otitis media	4	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		1
HP:0000598	HP:0000405	Conductive hearing impairment	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000598	HP:0002321	Vertigo	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000598	HP:0000357	Abnormal location of ears	4	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0000598	HP:0000357	Abnormal location of ears	4	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0000598	HP:0000357	Abnormal location of ears	4	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000598	HP:0008551	Microtia	4	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.		8
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0000598	HP:0000405	Conductive hearing impairment	4	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0000598	HP:0000411	Protruding ear	4	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0000598	HP:0000405	Conductive hearing impairment	4	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0000598	HP:0000411	Protruding ear	4	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HOMER2 CL E G H	9455	17513	OMIM:616707	DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HOXA11 CL E G H	3207	5101	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.		3
HP:0000598	HP:0008551	Microtia	4	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040283 - Occasional		11
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent		21
HP:0000598	HP:0008551	Microtia	4	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040280 - Obligate		21
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0000598	HP:0009892	Anotia	4	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent		21
HP:0000598	HP:0011039	Abnormal helix morphology	4	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000405	Conductive hearing impairment	4	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000410	Mixed hearing impairment	4	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0008551	Microtia	4	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0011039	Abnormal helix morphology	4	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000357	Abnormal location of ears	4	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.		2
HP:0000598	HP:0000357	Abnormal location of ears	4	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0000598	HP:0000357	Abnormal location of ears	4	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0000598	HP:0000357	Abnormal location of ears	4	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0000598	HP:0009588	Vestibular schwannoma	4	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000598	HP:0000357	Abnormal location of ears	4	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0011039	Abnormal helix morphology	4	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		8
HP:0000598	HP:0000357	Abnormal location of ears	4	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000598	HP:0008551	Microtia	4	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0000598	HP:0000357	Abnormal location of ears	4	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.		98
HP:0000598	HP:0008551	Microtia	4	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0000598	HP:0000357	Abnormal location of ears	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0000405	Conductive hearing impairment	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0000598	HP:0008551	Microtia	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0000357	Abnormal location of ears	4	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0000598	HP:0000357	Abnormal location of ears	4	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0000598	HP:0000357	Abnormal location of ears	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000598	HP:0011039	Abnormal helix morphology	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000598	HP:0000357	Abnormal location of ears	4	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0000598	HP:0011039	Abnormal helix morphology	4	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	HP:0040283 - Occasional		39
HP:0000598	HP:0000357	Abnormal location of ears	4	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000598	HP:0000378	Cupped ear	4	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0000598	HP:0000411	Protruding ear	4	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0000598	HP:0000403	Recurrent otitis media	4	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0000598	HP:0000403	Recurrent otitis media	4	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.		21
HP:0000598	HP:0000389	Chronic otitis media	4	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		21
HP:0000598	HP:0000403	Recurrent otitis media	4	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		21
HP:0000598	HP:0000405	Conductive hearing impairment	4	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0000598	HP:0000357	Abnormal location of ears	4	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0000598	HP:0000357	Abnormal location of ears	4	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0000598	HP:0000357	Abnormal location of ears	4	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0000598	HP:0001730	Progressive hearing impairment	4	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0000598	HP:0000389	Chronic otitis media	4	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		32
HP:0000598	HP:0000403	Recurrent otitis media	4	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.		32
HP:0000598	HP:0000403	Recurrent otitis media	4	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0000598	HP:0000400	Macrotia	4	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000598	HP:0000405	Conductive hearing impairment	4	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000598	HP:0000405	Conductive hearing impairment	4	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent		86
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000598	HP:0000405	Conductive hearing impairment	4	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000598	HP:0000403	Recurrent otitis media	4	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0000598	HP:0000403	Recurrent otitis media	4	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040282 - Frequent		115
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040283 - Occasional		115
HP:0000598	HP:0000357	Abnormal location of ears	4	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0000598	HP:0002321	Vertigo	4	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0000598	HP:0000357	Abnormal location of ears	4	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0000598	HP:0000411	Protruding ear	4	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0000598	HP:0000405	Conductive hearing impairment	4	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0000598	HP:0000357	Abnormal location of ears	4	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000598	HP:0000357	Abnormal location of ears	4	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0000598	HP:0000405	Conductive hearing impairment	4	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000598	HP:0000357	Abnormal location of ears	4	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000357	Abnormal location of ears	4	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0000598	HP:0000357	Abnormal location of ears	4	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0000598	HP:0000357	Abnormal location of ears	4	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0000598	HP:0000405	Conductive hearing impairment	4	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000598	HP:0000357	Abnormal location of ears	4	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0000598	HP:0000378	Cupped ear	4	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0000598	HP:0000357	Abnormal location of ears	4	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000378	Cupped ear	4	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000394	Lop ear	4	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000405	Conductive hearing impairment	4	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000410	Mixed hearing impairment	4	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0000598	HP:0000357	Abnormal location of ears	4	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000598	HP:0011039	Abnormal helix morphology	4	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0000598	HP:0000357	Abnormal location of ears	4	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0000598	HP:0000357	Abnormal location of ears	4	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0000598	HP:0000411	Protruding ear	4	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		9
HP:0000598	HP:0000403	Recurrent otitis media	4	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0000598	HP:0000403	Recurrent otitis media	4	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.		7
HP:0000598	HP:0000389	Chronic otitis media	4	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		7
HP:0000598	HP:0008572	External ear malformation	4	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		7
HP:0000598	HP:0000403	Recurrent otitis media	4	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0000598	HP:0000403	Recurrent otitis media	4	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive			3
HP:0000598	HP:0000389	Chronic otitis media	4	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		3
HP:0000598	HP:0008572	External ear malformation	4	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		3
HP:0000598	HP:0000403	Recurrent otitis media	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A			4
HP:0000598	HP:0002321	Vertigo	4	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0000598	HP:0000389	Chronic otitis media	4	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0000405	Conductive hearing impairment	4	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0002321	Vertigo	4	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000598	HP:0002321	Vertigo	4	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000598	HP:0000403	Recurrent otitis media	4	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51			196
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0000598	HP:0000403	Recurrent otitis media	4	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0000598	HP:0002321	Vertigo	4	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0000598	HP:0000403	Recurrent otitis media	4	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0000598	HP:0000403	Recurrent otitis media	4	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5			1
HP:0000598	HP:0000403	Recurrent otitis media	4	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000598	HP:0000357	Abnormal location of ears	4	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000598	HP:0000403	Recurrent otitis media	4	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive			94
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42	.		42
HP:0000598	HP:0000405	Conductive hearing impairment	4	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0000598	HP:0000405	Conductive hearing impairment	4	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000598	HP:0000405	Conductive hearing impairment	4	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0000598	HP:0000357	Abnormal location of ears	4	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0000598	HP:0000357	Abnormal location of ears	4	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000598	HP:0000357	Abnormal location of ears	4	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000598	HP:0000357	Abnormal location of ears	4	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000598	HP:0000357	Abnormal location of ears	4	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0000598	HP:0000357	Abnormal location of ears	4	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0000598	HP:0000400	Macrotia	4	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0000598	HP:0000357	Abnormal location of ears	4	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0000598	HP:0000411	Protruding ear	4	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional		229
HP:0000598	HP:0000400	Macrotia	4	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0000598	HP:0000357	Abnormal location of ears	4	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000598	HP:0000411	Protruding ear	4	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000598	HP:0000357	Abnormal location of ears	4	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000598	HP:0000357	Abnormal location of ears	4	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000598	HP:0008551	Microtia	4	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000598	HP:0000357	Abnormal location of ears	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0000378	Cupped ear	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0000400	Macrotia	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0004459	Exostosis of the external auditory canal	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0000400	Macrotia	4	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040283 - Occasional		119
HP:0000598	HP:0000389	Chronic otitis media	4	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		119
HP:0000598	HP:0000405	Conductive hearing impairment	4	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		119
HP:0000598	HP:0000357	Abnormal location of ears	4	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0000598	HP:0002321	Vertigo	4	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0000598	HP:0000389	Chronic otitis media	4	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		4
HP:0000598	HP:0000403	Recurrent otitis media	4	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		99
HP:0000598	HP:0000405	Conductive hearing impairment	4	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		99
HP:0000598	HP:0000389	Chronic otitis media	4	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent		99
HP:0000598	HP:0000405	Conductive hearing impairment	4	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		99
HP:0000598	HP:0000357	Abnormal location of ears	4	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0000598	HP:0000357	Abnormal location of ears	4	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000598	HP:0000357	Abnormal location of ears	4	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		119
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		69
HP:0000598	HP:0000400	Macrotia	4	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0000598	HP:0008551	Microtia	4	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0000598	HP:0000357	Abnormal location of ears	4	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0000598	HP:0000357	Abnormal location of ears	4	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		80
HP:0000598	HP:0008551	Microtia	4	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0000598	HP:0000400	Macrotia	4	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040284 - Very rare		130
HP:0000598	HP:0000357	Abnormal location of ears	4	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000598	HP:0000400	Macrotia	4	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0000598	HP:0000403	Recurrent otitis media	4	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive	.		8
HP:0000598	HP:0002321	Vertigo	4	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.		57
HP:0000598	HP:0002321	Vertigo	4	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		57
HP:0000598	HP:0002321	Vertigo	4	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		57
HP:0000598	HP:0000403	Recurrent otitis media	4	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type			140
HP:0000598	HP:0000371	Acute otitis media	4	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional		140
HP:0000598	HP:0000357	Abnormal location of ears	4	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0000389	Chronic otitis media	4	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000405	Conductive hearing impairment	4	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0011039	Abnormal helix morphology	4	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0011039	Abnormal helix morphology	4	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		222
HP:0000598	HP:0002321	Vertigo	4	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040281 - Very frequent		222
HP:0000598	HP:0000400	Macrotia	4	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0000598	HP:0000403	Recurrent otitis media	4	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0000598	HP:0000411	Protruding ear	4	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0000598	HP:0000357	Abnormal location of ears	4	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000598	HP:0000400	Macrotia	4	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000598	HP:0011039	Abnormal helix morphology	4	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000598	HP:0000400	Macrotia	4	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0000598	HP:0000403	Recurrent otitis media	4	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0000598	HP:0000411	Protruding ear	4	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0000598	HP:0009588	Vestibular schwannoma	4	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	4	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000598	HP:0012715	Profound hearing impairment	4	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000598	HP:0000357	Abnormal location of ears	4	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000598	HP:0000357	Abnormal location of ears	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0000389	Chronic otitis media	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0000403	Recurrent otitis media	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0009896	Abnormal antitragus morphology	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0009912	Abnormal tragus morphology	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0000357	Abnormal location of ears	4	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000598	HP:0000357	Abnormal location of ears	4	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0000598	HP:0000357	Abnormal location of ears	4	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0000598	HP:0000357	Abnormal location of ears	4	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant			141
HP:0000598	HP:0000357	Abnormal location of ears	4	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000598	HP:0000400	Macrotia	4	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0000598	HP:0000357	Abnormal location of ears	4	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0000598	HP:0000357	Abnormal location of ears	4	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000598	HP:0002321	Vertigo	4	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040282 - Frequent		145
HP:0000598	HP:0002321	Vertigo	4	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.		145
HP:0000598	HP:0000357	Abnormal location of ears	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0000405	Conductive hearing impairment	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0008551	Microtia	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent		148
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	4	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent		148
HP:0000598	HP:0012715	Profound hearing impairment	4	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2	.	HP:0003577 - Congenital onset	148
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2	.		148
HP:0000598	HP:0000400	Macrotia	4	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0000598	HP:0000400	Macrotia	4	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040284 - Very rare		13
HP:0000598	HP:0009894	Thickened ears	4	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		13
HP:0000598	HP:0000357	Abnormal location of ears	4	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000598	HP:0000400	Macrotia	4	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent		121
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct	.		121
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct			121
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		121
HP:0000598	HP:0002321	Vertigo	4	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		121
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.		121
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.		121
HP:0000598	HP:0009894	Thickened ears	4	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional		127
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000598	HP:0000357	Abnormal location of ears	4	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0000598	HP:0000357	Abnormal location of ears	4	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0000598	HP:0000357	Abnormal location of ears	4	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0000598	HP:0000357	Abnormal location of ears	4	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000598	HP:0000411	Protruding ear	4	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0000598	HP:0000400	Macrotia	4	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040284 - Very rare		7
HP:0000598	HP:0009894	Thickened ears	4	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		7
HP:0000598	HP:0011039	Abnormal helix morphology	4	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent		730
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	4	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent		730
HP:0000598	HP:0012715	Profound hearing impairment	4	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1			730
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1	.		730
HP:0000598	HP:0011039	Abnormal helix morphology	4	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0000598	HP:0000357	Abnormal location of ears	4	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0000598	HP:0000378	Cupped ear	4	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0000598	HP:0000411	Protruding ear	4	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0000598	HP:0008551	Microtia	4	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0000598	HP:0008551	Microtia	4	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent		11
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent		11
HP:0000598	HP:0009896	Abnormal antitragus morphology	4	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0009896	Abnormal antitragus morphology	4	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0000598	HP:0009912	Abnormal tragus morphology	4	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0009912	Abnormal tragus morphology	4	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0000598	HP:0400004	Long ear	4	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000598	HP:0000357	Abnormal location of ears	4	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000598	HP:0000400	Macrotia	4	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000598	HP:0000400	Macrotia	4	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000598	HP:0000411	Protruding ear	4	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000598	HP:0000411	Protruding ear	4	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional		81
HP:0000598	HP:0000400	Macrotia	4	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent		53
HP:0000598	HP:0000405	Conductive hearing impairment	4	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		53
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		53
HP:0000598	HP:0000411	Protruding ear	4	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent		53
HP:0000598	HP:0000357	Abnormal location of ears	4	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000598	HP:0000400	Macrotia	4	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0000598	HP:0000403	Recurrent otitis media	4	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0000598	HP:0000411	Protruding ear	4	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000598	HP:0000357	Abnormal location of ears	4	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0000378	Cupped ear	4	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	HP:0040283 - Occasional		53
HP:0000598	HP:0000400	Macrotia	4	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0000403	Recurrent otitis media	4	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0000411	Protruding ear	4	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0000400	Macrotia	4	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.		9
HP:0000598	HP:0000411	Protruding ear	4	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		4
HP:0000598	HP:0000357	Abnormal location of ears	4	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0000598	HP:0000357	Abnormal location of ears	4	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000598	HP:0011039	Abnormal helix morphology	4	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000598	HP:0000357	Abnormal location of ears	4	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0000598	HP:0000357	Abnormal location of ears	4	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000598	HP:0000357	Abnormal location of ears	4	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000598	HP:0000405	Conductive hearing impairment	4	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0000598	HP:0000357	Abnormal location of ears	4	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0000598	HP:0000405	Conductive hearing impairment	4	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0000411	Protruding ear	4	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000598	HP:0000411	Protruding ear	4	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0000598	HP:0000357	Abnormal location of ears	4	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000598	HP:0000357	Abnormal location of ears	4	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000598	HP:0000403	Recurrent otitis media	4	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008551	Microtia	4	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000598	HP:0000400	Macrotia	4	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0000598	HP:0008572	External ear malformation	4	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0000598	HP:0000405	Conductive hearing impairment	4	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		202
HP:0000598	HP:0002321	Vertigo	4	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000598	HP:0008629	Pulsatile tinnitus	4	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		202
HP:0000598	HP:0000357	Abnormal location of ears	4	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional		167
HP:0000598	HP:0000357	Abnormal location of ears	4	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0000598	HP:0000357	Abnormal location of ears	4	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0000598	HP:0000357	Abnormal location of ears	4	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000598	HP:0000405	Conductive hearing impairment	4	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0000598	HP:0000400	Macrotia	4	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000357	Abnormal location of ears	4	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		14
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KITLG CL E G H	4254	6343	OMIM:616697	DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		9
HP:0000598	HP:0000405	Conductive hearing impairment	4	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000598	HP:0000357	Abnormal location of ears	4	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0000598	HP:0000357	Abnormal location of ears	4	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0000598	HP:0000357	Abnormal location of ears	4	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0000598	HP:0000405	Conductive hearing impairment	4	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0000598	HP:0002321	Vertigo	4	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000598	HP:0000357	Abnormal location of ears	4	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0000598	HP:0000357	Abnormal location of ears	4	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0000598	HP:0000357	Abnormal location of ears	4	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0000598	HP:0000400	Macrotia	4	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent		660
HP:0000598	HP:0000405	Conductive hearing impairment	4	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		660
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		660
HP:0000598	HP:0000411	Protruding ear	4	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent		660
HP:0000598	HP:0000357	Abnormal location of ears	4	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000598	HP:0000400	Macrotia	4	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0000598	HP:0000403	Recurrent otitis media	4	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0000598	HP:0000411	Protruding ear	4	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000598	HP:0000403	Recurrent otitis media	4	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0000598	HP:0000411	Protruding ear	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000598	HP:0000400	Macrotia	4	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0000598	HP:0011039	Abnormal helix morphology	4	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000598	HP:0000357	Abnormal location of ears	4	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0000598	HP:0000357	Abnormal location of ears	4	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		196
HP:0000598	HP:0011039	Abnormal helix morphology	4	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0000357	Abnormal location of ears	4	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000598	HP:0011039	Abnormal helix morphology	4	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent		5
HP:0000598	HP:0000357	Abnormal location of ears	4	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0000598	HP:0000400	Macrotia	4	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	4	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		279
HP:0000598	HP:0000357	Abnormal location of ears	4	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0000598	HP:0008551	Microtia	4	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000598	HP:0000357	Abnormal location of ears	4	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0000598	HP:0000411	Protruding ear	4	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		136
HP:0000598	HP:0000357	Abnormal location of ears	4	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0000598	HP:0000357	Abnormal location of ears	4	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000598	HP:0001730	Progressive hearing impairment	4	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000598	HP:0008551	Microtia	4	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0000598	HP:0000357	Abnormal location of ears	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0000598	HP:0000403	Recurrent otitis media	4	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		286
HP:0000598	HP:0000357	Abnormal location of ears	4	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0000357	Abnormal location of ears	4	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000389	Chronic otitis media	4	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000405	Conductive hearing impairment	4	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0008551	Microtia	4	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0000598	HP:0000411	Protruding ear	4	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LHFPL5 CL E G H	222662	21253	OMIM:610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67			93
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	LHFPL5 CL E G H	222662	21253	OMIM:610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67			93
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism	.		51
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		51
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent		51
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		43
HP:0000598	HP:0000357	Abnormal location of ears	4	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0000598	HP:0000403	Recurrent otitis media	4	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000598	HP:0000411	Protruding ear	4	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0000598	HP:0000357	Abnormal location of ears	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000389	Chronic otitis media	4	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		1
HP:0000598	HP:0011039	Abnormal helix morphology	4	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0000598	HP:0008551	Microtia	4	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.		46
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0000598	HP:0000400	Macrotia	4	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		645
HP:0000598	HP:0000405	Conductive hearing impairment	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		645
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0001757	High-frequency sensorineural hearing impairment	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0000598	HP:0008573	Low-frequency sensorineural hearing impairment	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0000598	HP:0011039	Abnormal helix morphology	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000598	HP:0000357	Abnormal location of ears	4	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040284 - Very rare		44
HP:0000598	HP:0000411	Protruding ear	4	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040283 - Occasional		44
HP:0000598	HP:0000357	Abnormal location of ears	4	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0000598	HP:0005101	High-frequency hearing impairment	4	LMX1A CL E G H	4009	6653	OMIM:601412	Deafness, autosomal dominant nonsyndromic sensorineural 7	.
HP:0000598	HP:0000357	Abnormal location of ears	4	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0000598	HP:0000405	Conductive hearing impairment	4	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040282 - Frequent		8
HP:0000598	HP:0009901	Crumpled ear	4	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent		8
HP:0000598	HP:0009901	Crumpled ear	4	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0000598	HP:0011039	Abnormal helix morphology	4	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LOXHD1 CL E G H	125336	26521	OMIM:613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77			278
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	LOXHD1 CL E G H	125336	26521	OMIM:613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77			278
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		4
HP:0000598	HP:0000405	Conductive hearing impairment	4	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0000598	HP:0000403	Recurrent otitis media	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000598	HP:0000357	Abnormal location of ears	4	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0000357	Abnormal location of ears	4	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent		289
HP:0000598	HP:0000411	Protruding ear	4	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		124
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040282 - Frequent		124
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040283 - Occasional		125
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040282 - Frequent		125
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal	.		125
HP:0000598	HP:0000405	Conductive hearing impairment	4	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1	.		125
HP:0000598	HP:0000403	Recurrent otitis media	4	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0000598	HP:0000389	Chronic otitis media	4	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000357	Abnormal location of ears	4	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant			3
HP:0000598	HP:0000389	Chronic otitis media	4	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		3
HP:0000598	HP:0008572	External ear malformation	4	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63			78
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63			78
HP:0000598	HP:0000357	Abnormal location of ears	4	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0000598	HP:0000400	Macrotia	4	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000357	Abnormal location of ears	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008551	Microtia	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0000598	HP:0000357	Abnormal location of ears	4	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		43
HP:0000598	HP:0011039	Abnormal helix morphology	4	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0000357	Abnormal location of ears	4	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0000598	HP:0000357	Abnormal location of ears	4	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0000598	HP:0000357	Abnormal location of ears	4	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000598	HP:0000411	Protruding ear	4	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000598	HP:0000357	Abnormal location of ears	4	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000598	HP:0008572	External ear malformation	4	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0000598	HP:0000357	Abnormal location of ears	4	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000598	HP:0000357	Abnormal location of ears	4	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional		21
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0000598	HP:0008551	Microtia	4	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000598	HP:0000357	Abnormal location of ears	4	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.		21
HP:0000598	HP:0008551	Microtia	4	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional		21
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent		63
HP:0000598	HP:0008572	External ear malformation	4	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000598	HP:0000357	Abnormal location of ears	4	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0000598	HP:0000403	Recurrent otitis media	4	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN			17
HP:0000598	HP:0000405	Conductive hearing impairment	4	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0000598	HP:0000357	Abnormal location of ears	4	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0000598	HP:0000400	Macrotia	4	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent		93
HP:0000598	HP:0000357	Abnormal location of ears	4	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000598	HP:0000400	Macrotia	4	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000598	HP:0000400	Macrotia	4	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0000598	HP:0000405	Conductive hearing impairment	4	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0000598	HP:0000410	Mixed hearing impairment	4	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional		136
HP:0000598	HP:0000405	Conductive hearing impairment	4	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0000598	HP:0000410	Mixed hearing impairment	4	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent		136
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0008551	Microtia	4	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000598	HP:0000357	Abnormal location of ears	4	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0008551	Microtia	4	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0011039	Abnormal helix morphology	4	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0000357	Abnormal location of ears	4	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000598	HP:0000400	Macrotia	4	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0000598	HP:0011039	Abnormal helix morphology	4	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000598	HP:0000357	Abnormal location of ears	4	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0000598	HP:0000357	Abnormal location of ears	4	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000598	HP:0000400	Macrotia	4	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0000598	HP:0011039	Abnormal helix morphology	4	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000598	HP:0000357	Abnormal location of ears	4	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0000598	HP:0011039	Abnormal helix morphology	4	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		178
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly	.		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome			2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000403	Recurrent otitis media	4	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0000598	HP:0000405	Conductive hearing impairment	4	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome	HP:0040281 - Very frequent		11
HP:0000598	HP:0000405	Conductive hearing impairment	4	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000405	Conductive hearing impairment	4	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0000598	HP:0000410	Mixed hearing impairment	4	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		11
HP:0000598	HP:0000357	Abnormal location of ears	4	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0000598	HP:0000405	Conductive hearing impairment	4	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000357	Abnormal location of ears	4	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000598	HP:0000403	Recurrent otitis media	4	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000598	HP:0000357	Abnormal location of ears	4	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000598	HP:0000411	Protruding ear	4	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000598	HP:0000357	Abnormal location of ears	4	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0000598	HP:0008572	External ear malformation	4	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0000598	HP:0000357	Abnormal location of ears	4	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0008551	Microtia	4	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.		4
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0011039	Abnormal helix morphology	4	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040283 - Occasional		25
HP:0000598	HP:0000357	Abnormal location of ears	4	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25			25
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49			61
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49			61
HP:0000598	HP:0000357	Abnormal location of ears	4	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0000598	HP:0000400	Macrotia	4	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0000598	HP:0000405	Conductive hearing impairment	4	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0000598	HP:0000405	Conductive hearing impairment	4	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		84
HP:0000598	HP:0002321	Vertigo	4	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000598	HP:0008629	Pulsatile tinnitus	4	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		84
HP:0000598	HP:0000357	Abnormal location of ears	4	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000598	HP:0000378	Cupped ear	4	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000598	HP:0000411	Protruding ear	4	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000598	HP:0008551	Microtia	4	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000598	HP:0000357	Abnormal location of ears	4	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0000598	HP:0000400	Macrotia	4	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0000598	HP:0000357	Abnormal location of ears	4	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0000598	HP:0000411	Protruding ear	4	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent		22
HP:0000598	HP:0000400	Macrotia	4	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040282 - Frequent		22
HP:0000598	HP:0000389	Chronic otitis media	4	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		13
HP:0000598	HP:0000403	Recurrent otitis media	4	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		13
HP:0000598	HP:0000405	Conductive hearing impairment	4	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70			1
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70			1
HP:0000598	HP:0001730	Progressive hearing impairment	4	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70			1
HP:0000598	HP:0000357	Abnormal location of ears	4	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0000598	HP:0008551	Microtia	4	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0000598	HP:0000357	Abnormal location of ears	4	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0000598	HP:0000405	Conductive hearing impairment	4	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		4
HP:0000598	HP:0002321	Vertigo	4	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000598	HP:0008629	Pulsatile tinnitus	4	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MECOM CL E G H	2122	3498	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0000598	HP:0000357	Abnormal location of ears	4	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0000598	HP:0000400	Macrotia	4	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0000598	HP:0000400	Macrotia	4	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0000598	HP:0000378	Cupped ear	4	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional		228
HP:0000598	HP:0008551	Microtia	4	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000598	HP:0002321	Vertigo	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000598	HP:0012712	Mild hearing impairment	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000598	HP:0000357	Abnormal location of ears	4	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0000598	HP:0000357	Abnormal location of ears	4	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0000598	HP:0000411	Protruding ear	4	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		228
HP:0000598	HP:0011039	Abnormal helix morphology	4	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0000598	HP:0000357	Abnormal location of ears	4	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0008551	Microtia	4	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0000598	HP:0008551	Microtia	4	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0000357	Abnormal location of ears	4	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0000598	HP:0000400	Macrotia	4	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0000598	HP:0000357	Abnormal location of ears	4	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0000598	HP:0000400	Macrotia	4	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.		74
HP:0000598	HP:0000357	Abnormal location of ears	4	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000598	HP:0000357	Abnormal location of ears	4	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000598	HP:0000357	Abnormal location of ears	4	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0000598	HP:0002321	Vertigo	4	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0000598	HP:0000357	Abnormal location of ears	4	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0008551	Microtia	4	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000598	HP:0000403	Recurrent otitis media	4	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0000598	HP:0000403	Recurrent otitis media	4	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional		1
HP:0000598	HP:0000357	Abnormal location of ears	4	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0000357	Abnormal location of ears	4	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional		13
HP:0000598	HP:0000411	Protruding ear	4	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional		13
HP:0000598	HP:0000357	Abnormal location of ears	4	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0000598	HP:0000357	Abnormal location of ears	4	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0000598	HP:0002321	Vertigo	4	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000598	HP:0000405	Conductive hearing impairment	4	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.		5
HP:0000598	HP:0000405	Conductive hearing impairment	4	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0000598	HP:0000357	Abnormal location of ears	4	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000598	HP:0009901	Crumpled ear	4	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000598	HP:0000357	Abnormal location of ears	4	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MET CL E G H	4233	7029	OMIM:616705	DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97			375
HP:0000598	HP:0000357	Abnormal location of ears	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000389	Chronic otitis media	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000400	Macrotia	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000411	Protruding ear	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000598	HP:0000400	Macrotia	4	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040284 - Very rare		203
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000598	HP:0008587	Mild neurosensory hearing impairment	4	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	HP:0040283 - Occasional		203
HP:0000598	HP:0012712	Mild hearing impairment	4	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000598	HP:0000357	Abnormal location of ears	4	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0000598	HP:0000400	Macrotia	4	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0000598	HP:0000357	Abnormal location of ears	4	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0000598	HP:0000400	Macrotia	4	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0000598	HP:0000403	Recurrent otitis media	4	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent		33
HP:0000598	HP:0000403	Recurrent otitis media	4	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000598	HP:0000357	Abnormal location of ears	4	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0000598	HP:0000357	Abnormal location of ears	4	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000598	HP:0000400	Macrotia	4	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0000598	HP:0000400	Macrotia	4	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		3
HP:0000598	HP:0000357	Abnormal location of ears	4	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50			4
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50	.		4
HP:0000598	HP:0001730	Progressive hearing impairment	4	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50			4
HP:0000598	HP:0000357	Abnormal location of ears	4	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome	.		91
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome	.		91
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		91
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000598	HP:0000357	Abnormal location of ears	4	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0000598	HP:0000357	Abnormal location of ears	4	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0000598	HP:0000357	Abnormal location of ears	4	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0000598	HP:0000357	Abnormal location of ears	4	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000598	HP:0000357	Abnormal location of ears	4	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0000598	HP:0000357	Abnormal location of ears	4	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000598	HP:0000357	Abnormal location of ears	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000389	Chronic otitis media	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000400	Macrotia	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000411	Protruding ear	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0000403	Recurrent otitis media	4	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0000357	Abnormal location of ears	4	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0000598	HP:0000357	Abnormal location of ears	4	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0000598	HP:0000400	Macrotia	4	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0000598	HP:0000357	Abnormal location of ears	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008551	Microtia	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000598	HP:0000403	Recurrent otitis media	4	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.		37
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0000598	HP:0004454	Abnormal middle ear reflexes	4	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0000598	HP:0000357	Abnormal location of ears	4	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	HP:0040284 - Very rare		29
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0000598	HP:0002321	Vertigo	4	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		97
HP:0000598	HP:0002321	Vertigo	4	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		97
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000598	HP:0000411	Protruding ear	4	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000598	HP:0000400	Macrotia	4	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J	.		134
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J	.		134
HP:0000598	HP:0001730	Progressive hearing impairment	4	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0000598	HP:0000357	Abnormal location of ears	4	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000598	HP:0011039	Abnormal helix morphology	4	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0000357	Abnormal location of ears	4	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0000598	HP:0000357	Abnormal location of ears	4	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0000598	HP:0000357	Abnormal location of ears	4	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0000598	HP:0000357	Abnormal location of ears	4	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36	.
HP:0000598	HP:0000357	Abnormal location of ears	4	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0000598	HP:0000357	Abnormal location of ears	4	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0410017	Otitis externa	4	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0000598	HP:0000389	Chronic otitis media	4	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000598	HP:0000403	Recurrent otitis media	4	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		12
HP:0000598	HP:0000405	Conductive hearing impairment	4	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		12
HP:0000598	HP:0000389	Chronic otitis media	4	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent		12
HP:0000598	HP:0000405	Conductive hearing impairment	4	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		12
HP:0000598	HP:0008551	Microtia	4	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0000598	HP:0000357	Abnormal location of ears	4	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000598	HP:0000357	Abnormal location of ears	4	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0000598	HP:0000357	Abnormal location of ears	4	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0000598	HP:0002321	Vertigo	4	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome	.		150
HP:0000598	HP:0000357	Abnormal location of ears	4	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0000598	HP:0000357	Abnormal location of ears	4	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		1143
HP:0000598	HP:0000357	Abnormal location of ears	4	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0000598	HP:0000405	Conductive hearing impairment	4	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional		35
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional		35
HP:0000598	HP:0002321	Vertigo	4	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040282 - Frequent		9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4			227
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4	.		227
HP:0000598	HP:0001730	Progressive hearing impairment	4	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4			227
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome			227
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent		227
HP:0000598	HP:0000357	Abnormal location of ears	4	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0000598	HP:0000405	Conductive hearing impairment	4	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		166
HP:0000598	HP:0000357	Abnormal location of ears	4	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0000598	HP:0000411	Protruding ear	4	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		166
HP:0000598	HP:0100830	Round ear	4	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		166
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		452
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		1269
HP:0000598	HP:0005101	High-frequency hearing impairment	4	MYH9 CL E G H	4627	7579	OMIM:603622	Deafness, autosomal dominant nonsyndromic sensorineural 17	.		297
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	HP:0040284 - Very rare		297
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent		297
HP:0000598	HP:0002321	Vertigo	4	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.		131
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0000598	HP:0000357	Abnormal location of ears	4	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000598	HP:0000411	Protruding ear	4	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3			387
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	4	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3	.	HP:0003577 - Congenital onset	387
HP:0000598	HP:0012715	Profound hearing impairment	4	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3			387
HP:0000598	HP:0000357	Abnormal location of ears	4	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30			168
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30	.		168
HP:0000598	HP:0001730	Progressive hearing impairment	4	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30			168
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22	.		179
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22	.		179
HP:0000598	HP:0001730	Progressive hearing impairment	4	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22			179
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37	.		179
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11			516
HP:0000598	HP:0002321	Vertigo	4	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11	.		516
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11	.		516
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2	.		516
HP:0000598	HP:0002321	Vertigo	4	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2	.		516
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000598	HP:0001756	Vestibular hypofunction	4	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.		516
HP:0000598	HP:0001756	Vestibular hypofunction	4	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000598	HP:0000357	Abnormal location of ears	4	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0000598	HP:0000357	Abnormal location of ears	4	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0000598	HP:0000357	Abnormal location of ears	4	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		217
HP:0000598	HP:0000357	Abnormal location of ears	4	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0000598	HP:0000357	Abnormal location of ears	4	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000598	HP:0008572	External ear malformation	4	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		23
HP:0000598	HP:0000357	Abnormal location of ears	4	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000598	HP:0000403	Recurrent otitis media	4	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0000598	HP:0011039	Abnormal helix morphology	4	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000598	HP:0000357	Abnormal location of ears	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000598	HP:0000357	Abnormal location of ears	4	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0000598	HP:0000400	Macrotia	4	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional		23
HP:0000598	HP:0000400	Macrotia	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0000598	HP:0000403	Recurrent otitis media	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000598	HP:0000411	Protruding ear	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000598	HP:0000357	Abnormal location of ears	4	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000598	HP:0002321	Vertigo	4	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000598	HP:0002321	Vertigo	4	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040282 - Frequent		47
HP:0000598	HP:0002321	Vertigo	4	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent		47
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.		47
HP:0000598	HP:0002321	Vertigo	4	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.		47
HP:0000598	HP:0000357	Abnormal location of ears	4	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0000598	HP:0000400	Macrotia	4	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0000598	HP:0000357	Abnormal location of ears	4	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000598	HP:0000411	Protruding ear	4	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		48
HP:0000598	HP:0100830	Round ear	4	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		48
HP:0000598	HP:0000357	Abnormal location of ears	4	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000598	HP:0000400	Macrotia	4	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000598	HP:0011039	Abnormal helix morphology	4	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94			34
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94			34
HP:0000598	HP:0009894	Thickened ears	4	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional		34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000598	HP:0000400	Macrotia	4	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0000598	HP:0000400	Macrotia	4	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0000598	HP:0000357	Abnormal location of ears	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0000389	Chronic otitis media	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0000598	HP:0000400	Macrotia	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0000598	HP:0000411	Protruding ear	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0000598	HP:0000403	Recurrent otitis media	4	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND5 CL E G H	4540	7461	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000598	HP:0000357	Abnormal location of ears	4	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0000598	HP:0000400	Macrotia	4	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040282 - Frequent		39
HP:0000598	HP:0000400	Macrotia	4	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent		39
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.		39
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0000598	HP:0000411	Protruding ear	4	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0000598	HP:0011039	Abnormal helix morphology	4	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040282 - Frequent		82
HP:0000598	HP:0000411	Protruding ear	4	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000598	HP:0000357	Abnormal location of ears	4	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0000598	HP:0000357	Abnormal location of ears	4	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0000598	HP:0000357	Abnormal location of ears	4	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0000598	HP:0000403	Recurrent otitis media	4	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		4
HP:0000598	HP:0000405	Conductive hearing impairment	4	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		4
HP:0000598	HP:0000400	Macrotia	4	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040281 - Very frequent		4
HP:0000598	HP:0000411	Protruding ear	4	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0000389	Chronic otitis media	4	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent		4
HP:0000598	HP:0000405	Conductive hearing impairment	4	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional		118
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	HP:0040284 - Very rare		118
HP:0000598	HP:0000405	Conductive hearing impairment	4	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional		101
HP:0000598	HP:0000411	Protruding ear	4	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional		101
HP:0000598	HP:0000389	Chronic otitis media	4	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000405	Conductive hearing impairment	4	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000598	HP:0000357	Abnormal location of ears	4	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0000598	HP:0000357	Abnormal location of ears	4	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008551	Microtia	4	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000598	HP:0000357	Abnormal location of ears	4	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0000598	HP:0000400	Macrotia	4	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		167
HP:0000598	HP:0000357	Abnormal location of ears	4	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000598	HP:0000405	Conductive hearing impairment	4	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		1952
HP:0000598	HP:0002321	Vertigo	4	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000598	HP:0008629	Pulsatile tinnitus	4	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		1952
HP:0000598	HP:0000411	Protruding ear	4	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0000598	HP:0000357	Abnormal location of ears	4	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0000357	Abnormal location of ears	4	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0011039	Abnormal helix morphology	4	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		1952
HP:0000598	HP:0000357	Abnormal location of ears	4	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040282 - Frequent		220
HP:0000598	HP:0009588	Vestibular schwannoma	4	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000598	HP:0002321	Vertigo	4	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0009588	Vestibular schwannoma	4	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0000357	Abnormal location of ears	4	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0000598	HP:0000357	Abnormal location of ears	4	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000598	HP:0008551	Microtia	4	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000598	HP:0000357	Abnormal location of ears	4	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0000405	Conductive hearing impairment	4	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040282 - Frequent		40
HP:0000598	HP:0000405	Conductive hearing impairment	4	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0009797	Cholesteatoma	4	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0011039	Abnormal helix morphology	4	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0000389	Chronic otitis media	4	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		7
HP:0000598	HP:0000389	Chronic otitis media	4	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		11
HP:0000598	HP:0000403	Recurrent otitis media	4	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent		11
HP:0000598	HP:0000403	Recurrent otitis media	4	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0000598	HP:0000357	Abnormal location of ears	4	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0000598	HP:0000400	Macrotia	4	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.		88
HP:0000598	HP:0000411	Protruding ear	4	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040282 - Frequent		88
HP:0000598	HP:0008551	Microtia	4	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0000598	HP:0008551	Microtia	4	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.		55
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0000598	HP:0000389	Chronic otitis media	4	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		60
HP:0000598	HP:0011039	Abnormal helix morphology	4	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent		60
HP:0000598	HP:0000357	Abnormal location of ears	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0000400	Macrotia	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0000598	HP:0000405	Conductive hearing impairment	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		494
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		494
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0000598	HP:0000357	Abnormal location of ears	4	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0000405	Conductive hearing impairment	4	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000598	HP:0011039	Abnormal helix morphology	4	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0000411	Protruding ear	4	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0000598	HP:0009797	Cholesteatoma	4	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0000598	HP:0002321	Vertigo	4	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		90
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent		217
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0000598	HP:0001730	Progressive hearing impairment	4	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional		217
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent		217
HP:0000598	HP:0001730	Progressive hearing impairment	4	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0000598	HP:0001730	Progressive hearing impairment	4	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0000598	HP:0000403	Recurrent otitis media	4	NME5 CL E G H	8382	7853	OMIM:620032
HP:0000598	HP:0000389	Chronic otitis media	4	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		50
HP:0000598	HP:0000403	Recurrent otitis media	4	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		50
HP:0000598	HP:0000405	Conductive hearing impairment	4	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		50
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0000598	HP:0000405	Conductive hearing impairment	4	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome	HP:0040281 - Very frequent		22
HP:0000598	HP:0000405	Conductive hearing impairment	4	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040282 - Frequent		22
HP:0000598	HP:0000405	Conductive hearing impairment	4	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	HP:0040281 - Very frequent		22
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0000598	HP:0000405	Conductive hearing impairment	4	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000598	HP:0002321	Vertigo	4	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare		9
HP:0000598	HP:0000357	Abnormal location of ears	4	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000357	Abnormal location of ears	4	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000598	HP:0000405	Conductive hearing impairment	4	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0000598	HP:0001730	Progressive hearing impairment	4	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000598	HP:0000405	Conductive hearing impairment	4	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000598	HP:0000357	Abnormal location of ears	4	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000598	HP:0000357	Abnormal location of ears	4	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000598	HP:0000405	Conductive hearing impairment	4	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0000598	HP:0000405	Conductive hearing impairment	4	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent		144
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional		144
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent		144
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent		144
HP:0000598	HP:0000357	Abnormal location of ears	4	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0000598	HP:0000357	Abnormal location of ears	4	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0000598	HP:0002321	Vertigo	4	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0000598	HP:0002321	Vertigo	4	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional		13
HP:0000598	HP:0000405	Conductive hearing impairment	4	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000598	HP:0000411	Protruding ear	4	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000598	HP:0011039	Abnormal helix morphology	4	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000598	HP:0000411	Protruding ear	4	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0000598	HP:0011039	Abnormal helix morphology	4	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0000598	HP:0000357	Abnormal location of ears	4	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		102
HP:0000598	HP:0011039	Abnormal helix morphology	4	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0000357	Abnormal location of ears	4	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6	.		102
HP:0000598	HP:0000357	Abnormal location of ears	4	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000598	HP:0000405	Conductive hearing impairment	4	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		4
HP:0000598	HP:0000389	Chronic otitis media	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0000598	HP:0000405	Conductive hearing impairment	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0000598	HP:0009797	Cholesteatoma	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0000598	HP:0000357	Abnormal location of ears	4	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0000400	Macrotia	4	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0000405	Conductive hearing impairment	4	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0000357	Abnormal location of ears	4	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0000598	HP:0000400	Macrotia	4	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000598	HP:0000411	Protruding ear	4	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000598	HP:0011039	Abnormal helix morphology	4	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000598	HP:0000357	Abnormal location of ears	4	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000389	Chronic otitis media	4	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000405	Conductive hearing impairment	4	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0008551	Microtia	4	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000357	Abnormal location of ears	4	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0000598	HP:0000357	Abnormal location of ears	4	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		6
HP:0000598	HP:0000357	Abnormal location of ears	4	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000598	HP:0000411	Protruding ear	4	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000598	HP:0020206	Simple ear	4	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000598	HP:0000357	Abnormal location of ears	4	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000598	HP:0000411	Protruding ear	4	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0000598	HP:0000357	Abnormal location of ears	4	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0000598	HP:0002321	Vertigo	4	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		5
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	4	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		5
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0000598	HP:0000400	Macrotia	4	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	4	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0000598	HP:0000357	Abnormal location of ears	4	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000598	HP:0009912	Abnormal tragus morphology	4	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0000598	HP:0000357	Abnormal location of ears	4	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0000598	HP:0000357	Abnormal location of ears	4	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000598	HP:0000389	Chronic otitis media	4	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000357	Abnormal location of ears	4	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0000598	HP:0000411	Protruding ear	4	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0000598	HP:0000411	Protruding ear	4	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent		143
HP:0000598	HP:0000357	Abnormal location of ears	4	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0000598	HP:0000357	Abnormal location of ears	4	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000598	HP:0000389	Chronic otitis media	4	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0000598	HP:0000411	Protruding ear	4	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0000598	HP:0000403	Recurrent otitis media	4	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0000598	HP:0000389	Chronic otitis media	4	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000403	Recurrent otitis media	4	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000598	HP:0000389	Chronic otitis media	4	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000403	Recurrent otitis media	4	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0000598	HP:0000389	Chronic otitis media	4	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000389	Chronic otitis media	4	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000378	Cupped ear	4	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000598	HP:0000400	Macrotia	4	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000357	Abnormal location of ears	4	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0000598	HP:0000357	Abnormal location of ears	4	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0000598	HP:0000389	Chronic otitis media	4	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0000598	HP:0000357	Abnormal location of ears	4	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000598	HP:0000405	Conductive hearing impairment	4	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0000598	HP:0000389	Chronic otitis media	4	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		201
HP:0000598	HP:0000403	Recurrent otitis media	4	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		201
HP:0000598	HP:0000405	Conductive hearing impairment	4	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		201
HP:0000598	HP:0000405	Conductive hearing impairment	4	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0000598	HP:0000357	Abnormal location of ears	4	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0000598	HP:0000357	Abnormal location of ears	4	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent		214
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		214
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000598	HP:0001730	Progressive hearing impairment	4	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000598	HP:0000400	Macrotia	4	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.		55
HP:0000598	HP:0000357	Abnormal location of ears	4	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0000598	HP:0008551	Microtia	4	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000598	HP:0009892	Anotia	4	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0000598	HP:0000357	Abnormal location of ears	4	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0000598	HP:0008551	Microtia	4	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0000357	Abnormal location of ears	4	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0000598	HP:0008551	Microtia	4	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000598	HP:0009892	Anotia	4	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0000598	HP:0008551	Microtia	4	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0000598	HP:0000357	Abnormal location of ears	4	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0000598	HP:0008551	Microtia	4	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000598	HP:0009892	Anotia	4	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0000598	HP:0000357	Abnormal location of ears	4	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0000598	HP:0008551	Microtia	4	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	OSBPL2 CL E G H	9885	15761	OMIM:616340	DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67			2
HP:0000598	HP:0000400	Macrotia	4	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	4	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0000598	HP:0000405	Conductive hearing impairment	4	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040283 - Occasional		73
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	OTOA CL E G H	146183	16378	OMIM:607039	Deafness, autosomal recessive 22	.		58
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9			383
HP:0000598	HP:0004454	Abnormal middle ear reflexes	4	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9			383
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B			105
HP:0000598	HP:0001756	Vestibular hypofunction	4	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B	HP:0040283 - Occasional		105
HP:0000598	HP:0000357	Abnormal location of ears	4	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000598	HP:0000357	Abnormal location of ears	4	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0000598	HP:0000400	Macrotia	4	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000357	Abnormal location of ears	4	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000598	HP:0000400	Macrotia	4	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000598	HP:0000411	Protruding ear	4	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.		4
HP:0000598	HP:0000357	Abnormal location of ears	4	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		41
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41			23
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41	.		23
HP:0000598	HP:0001730	Progressive hearing impairment	4	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41			23
HP:0000598	HP:0000405	Conductive hearing impairment	4	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000598	HP:0002321	Vertigo	4	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000598	HP:0000357	Abnormal location of ears	4	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0000598	HP:0000400	Macrotia	4	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0000598	HP:0000411	Protruding ear	4	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent		24
HP:0000598	HP:0000357	Abnormal location of ears	4	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000598	HP:0000400	Macrotia	4	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000598	HP:0000357	Abnormal location of ears	4	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0000598	HP:0011039	Abnormal helix morphology	4	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0000598	HP:0000357	Abnormal location of ears	4	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000598	HP:0008551	Microtia	4	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	.
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000598	HP:0000400	Macrotia	4	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000598	HP:0008572	External ear malformation	4	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0000598	HP:0000357	Abnormal location of ears	4	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0000598	HP:0008551	Microtia	4	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0000598	HP:0000400	Macrotia	4	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0000405	Conductive hearing impairment	4	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0000411	Protruding ear	4	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0000357	Abnormal location of ears	4	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000378	Cupped ear	4	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000405	Conductive hearing impairment	4	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000410	Mixed hearing impairment	4	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.		39
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent		59
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome	.		59
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent		59
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0000598	HP:0000357	Abnormal location of ears	4	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000598	HP:0000357	Abnormal location of ears	4	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000598	HP:0008551	Microtia	4	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000598	HP:0011039	Abnormal helix morphology	4	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000598	HP:0000405	Conductive hearing impairment	4	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PCDH15 CL E G H	65217	14674	OMIM:609533	Deafness, autosomal recessive 23	.		352
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000598	HP:0001756	Vestibular hypofunction	4	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF			352
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF	.		352
HP:0000598	HP:0000357	Abnormal location of ears	4	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000598	HP:0000357	Abnormal location of ears	4	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000598	HP:0008551	Microtia	4	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0000598	HP:0000400	Macrotia	4	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.		6
HP:0000598	HP:0000357	Abnormal location of ears	4	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent		531
HP:0000598	HP:0008551	Microtia	4	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		531
HP:0000598	HP:0000403	Recurrent otitis media	4	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0000598	HP:0000357	Abnormal location of ears	4	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000598	HP:0000405	Conductive hearing impairment	4	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0000598	HP:0000405	Conductive hearing impairment	4	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0000598	HP:0000357	Abnormal location of ears	4	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000598	HP:0000405	Conductive hearing impairment	4	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0000598	HP:0000405	Conductive hearing impairment	4	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0000598	HP:0002321	Vertigo	4	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.		9
HP:0000598	HP:0000403	Recurrent otitis media	4	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		337
HP:0000598	HP:0000405	Conductive hearing impairment	4	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		337
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.		28
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	HP:0040283 - Occasional		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040283 - Occasional		4
HP:0000598	HP:0000357	Abnormal location of ears	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008551	Microtia	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PDZD7 CL E G H	79955	26257	OMIM:618003	DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57			40
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA			40
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA	.		40
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC			40
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC	.		40
HP:0000598	HP:0000357	Abnormal location of ears	4	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1	.		169
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		169
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		169
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0000598	HP:0011039	Abnormal helix morphology	4	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		169
HP:0000598	HP:0008572	External ear malformation	4	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		75
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		75
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.		75
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		75
HP:0000598	HP:0008572	External ear malformation	4	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		4
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		4
HP:0000598	HP:0001730	Progressive hearing impairment	4	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0008572	External ear malformation	4	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		65
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		65
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		65
HP:0000598	HP:0008572	External ear malformation	4	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		66
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		66
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		66
HP:0000598	HP:0008572	External ear malformation	4	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		46
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		46
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		46
HP:0000598	HP:0008572	External ear malformation	4	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		59
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		59
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		59
HP:0000598	HP:0008572	External ear malformation	4	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		62
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		62
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		62
HP:0000598	HP:0008572	External ear malformation	4	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		82
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		82
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0000598	HP:0011039	Abnormal helix morphology	4	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		82
HP:0000598	HP:0008572	External ear malformation	4	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		106
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		106
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B	.		106
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		106
HP:0000598	HP:0008572	External ear malformation	4	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		47
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		47
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B			47
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		47
HP:0000598	HP:0008572	External ear malformation	4	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		99
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		99
HP:0000598	HP:0011039	Abnormal helix morphology	4	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B			99
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		99
HP:0000598	HP:0008572	External ear malformation	4	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		98
HP:0000598	HP:0000357	Abnormal location of ears	4	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		98
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		98
HP:0000598	HP:0008572	External ear malformation	4	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B	.		72
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.		72
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040281 - Very frequent		72
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0000598	HP:0000400	Macrotia	4	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000598	HP:0000378	Cupped ear	4	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000598	HP:0011039	Abnormal helix morphology	4	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000598	HP:0000378	Cupped ear	4	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0000598	HP:0011039	Abnormal helix morphology	4	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000598	HP:0000403	Recurrent otitis media	4	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0000598	HP:0000405	Conductive hearing impairment	4	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23	.		15
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0000598	HP:0000389	Chronic otitis media	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent		15
HP:0000598	HP:0000405	Conductive hearing impairment	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0000598	HP:0008587	Mild neurosensory hearing impairment	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0000598	HP:0012712	Mild hearing impairment	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0000598	HP:0000357	Abnormal location of ears	4	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040284 - Very rare		217
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0000598	HP:0000400	Macrotia	4	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0000598	HP:0000400	Macrotia	4	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0000598	HP:0000400	Macrotia	4	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0000598	HP:0000400	Macrotia	4	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000598	HP:0000403	Recurrent otitis media	4	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000598	HP:0000357	Abnormal location of ears	4	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		86
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040281 - Very frequent		45
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.		45
HP:0000598	HP:0000357	Abnormal location of ears	4	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0000598	HP:0000378	Cupped ear	4	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0000598	HP:0000411	Protruding ear	4	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0000598	HP:0000400	Macrotia	4	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent		77
HP:0000598	HP:0000357	Abnormal location of ears	4	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0000598	HP:0000357	Abnormal location of ears	4	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0000598	HP:0011039	Abnormal helix morphology	4	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0000598	HP:0000357	Abnormal location of ears	4	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0011039	Abnormal helix morphology	4	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0000357	Abnormal location of ears	4	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0000389	Chronic otitis media	4	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0008551	Microtia	4	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0009896	Abnormal antitragus morphology	4	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000598	HP:0000378	Cupped ear	4	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0000598	HP:0011039	Abnormal helix morphology	4	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000598	HP:0000405	Conductive hearing impairment	4	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0000598	HP:0011039	Abnormal helix morphology	4	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000598	HP:0000357	Abnormal location of ears	4	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0000598	HP:0000400	Macrotia	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0008551	Microtia	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0009912	Abnormal tragus morphology	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0011039	Abnormal helix morphology	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0000357	Abnormal location of ears	4	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000598	HP:0000378	Cupped ear	4	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0000598	HP:0000400	Macrotia	4	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000598	HP:0011039	Abnormal helix morphology	4	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000598	HP:0000378	Cupped ear	4	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0000598	HP:0011039	Abnormal helix morphology	4	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000598	HP:0000357	Abnormal location of ears	4	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000598	HP:0011039	Abnormal helix morphology	4	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000598	HP:0000357	Abnormal location of ears	4	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000598	HP:0000357	Abnormal location of ears	4	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000598	HP:0000357	Abnormal location of ears	4	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000598	HP:0000357	Abnormal location of ears	4	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000598	HP:0000378	Cupped ear	4	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0000598	HP:0011039	Abnormal helix morphology	4	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000598	HP:0000378	Cupped ear	4	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0011039	Abnormal helix morphology	4	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0000598	HP:0009894	Thickened ears	4	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0000598	HP:0000378	Cupped ear	4	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0011039	Abnormal helix morphology	4	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000598	HP:0000405	Conductive hearing impairment	4	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008551	Microtia	4	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional		162
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0000598	HP:0000411	Protruding ear	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0000598	HP:0000403	Recurrent otitis media	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0000598	HP:0000389	Chronic otitis media	4	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		43
HP:0000598	HP:0008572	External ear malformation	4	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		43
HP:0000598	HP:0000400	Macrotia	4	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent		43
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0000598	HP:0000357	Abnormal location of ears	4	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PJVK CL E G H	494513	29502	OMIM:610220	Deafness, autosomal recessive 59	.		45
HP:0000598	HP:0000357	Abnormal location of ears	4	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0000598	HP:0000357	Abnormal location of ears	4	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000598	HP:0000357	Abnormal location of ears	4	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040283 - Occasional		3
HP:0000598	HP:0000357	Abnormal location of ears	4	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0000598	HP:0008572	External ear malformation	4	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent		82
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0000598	HP:0011039	Abnormal helix morphology	4	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0000598	HP:0030022	Question mark ear	4	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0000598	HP:0000357	Abnormal location of ears	4	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0000598	HP:0011039	Abnormal helix morphology	4	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0000598	HP:0000403	Recurrent otitis media	4	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3			21
HP:0000598	HP:0000357	Abnormal location of ears	4	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000598	HP:0000400	Macrotia	4	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0000598	HP:0008551	Microtia	4	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.		759
HP:0000598	HP:0008551	Microtia	4	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000598	HP:0000411	Protruding ear	4	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		11
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		11
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		57
HP:0000598	HP:0000357	Abnormal location of ears	4	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PLS1 CL E G H	5357	9090	OMIM:618787	DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76
HP:0000598	HP:0000357	Abnormal location of ears	4	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000598	HP:0000378	Cupped ear	4	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000598	HP:0002321	Vertigo	4	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		3
HP:0000598	HP:0000400	Macrotia	4	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0000598	HP:0000400	Macrotia	4	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.		79
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040281 - Very frequent		79
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	4	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional		79
HP:0000598	HP:0012715	Profound hearing impairment	4	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040284 - Very rare		52
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040283 - Occasional		65
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040283 - Occasional		65
HP:0000598	HP:0000357	Abnormal location of ears	4	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040282 - Frequent		103
HP:0000598	HP:0009896	Abnormal antitragus morphology	4	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040281 - Very frequent		103
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0000598	HP:0008504	Moderate sensorineural hearing impairment	4	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.		3
HP:0000598	HP:0012713	Moderate hearing impairment	4	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent		60
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13	.		60
HP:0000598	HP:0000357	Abnormal location of ears	4	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000598	HP:0008551	Microtia	4	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.		10
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000598	HP:0000357	Abnormal location of ears	4	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000598	HP:0000357	Abnormal location of ears	4	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000598	HP:0000411	Protruding ear	4	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000598	HP:0008551	Microtia	4	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000598	HP:0008551	Microtia	4	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0000598	HP:0000357	Abnormal location of ears	4	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome			1129
HP:0000598	HP:0000357	Abnormal location of ears	4	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0000598	HP:0008551	Microtia	4	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		464
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		464
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0000598	HP:0000400	Macrotia	4	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.		8
HP:0000598	HP:0008551	Microtia	4	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.		8
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0000598	HP:0009892	Anotia	4	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.		8
HP:0000598	HP:0000405	Conductive hearing impairment	4	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000598	HP:0000405	Conductive hearing impairment	4	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000598	HP:0008551	Microtia	4	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.		38
HP:0000598	HP:0008551	Microtia	4	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.		38
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3			38
HP:0000598	HP:0000405	Conductive hearing impairment	4	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0000598	HP:0008551	Microtia	4	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000598	HP:0000405	Conductive hearing impairment	4	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2	.		31
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0008551	Microtia	4	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2	.		31
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0009892	Anotia	4	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0000405	Conductive hearing impairment	4	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0000598	HP:0008551	Microtia	4	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000598	HP:0000357	Abnormal location of ears	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000357	Abnormal location of ears	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000403	Recurrent otitis media	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0000598	HP:0001730	Progressive hearing impairment	4	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000598	HP:0005101	High-frequency hearing impairment	4	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000598	HP:0000405	Conductive hearing impairment	4	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0000598	HP:0000357	Abnormal location of ears	4	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0000598	HP:0000411	Protruding ear	4	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		180
HP:0000598	HP:0000357	Abnormal location of ears	4	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0000598	HP:0000411	Protruding ear	4	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		33
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	HP:0040283 - Occasional		18
HP:0000598	HP:0000357	Abnormal location of ears	4	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0000598	HP:0000411	Protruding ear	4	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		18
HP:0000598	HP:0000357	Abnormal location of ears	4	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0000598	HP:0008551	Microtia	4	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000598	HP:0000357	Abnormal location of ears	4	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0000598	HP:0000411	Protruding ear	4	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		213
HP:0000598	HP:0000357	Abnormal location of ears	4	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0000598	HP:0008551	Microtia	4	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000598	HP:0000357	Abnormal location of ears	4	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0000598	HP:0000411	Protruding ear	4	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		221
HP:0000598	HP:0000405	Conductive hearing impairment	4	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0000598	HP:0020206	Simple ear	4	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		76
HP:0000598	HP:0000357	Abnormal location of ears	4	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0000598	HP:0000405	Conductive hearing impairment	4	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0000598	HP:0000357	Abnormal location of ears	4	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000598	HP:0000357	Abnormal location of ears	4	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000598	HP:0000405	Conductive hearing impairment	4	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000598	HP:0000410	Mixed hearing impairment	4	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		36
HP:0000598	HP:0000378	Cupped ear	4	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000598	HP:0000411	Protruding ear	4	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000598	HP:0000405	Conductive hearing impairment	4	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2	.		40
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2	.		40
HP:0000598	HP:0000410	Mixed hearing impairment	4	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0001730	Progressive hearing impairment	4	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000598	HP:0000405	Conductive hearing impairment	4	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040281 - Very frequent		40
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0400005	Short ear	4	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PPIP5K2 CL E G H	23262	29035	OMIM:618422	Deafness, autosomal recessive 100			2
HP:0000598	HP:0000357	Abnormal location of ears	4	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0000598	HP:0000357	Abnormal location of ears	4	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0000598	HP:0000400	Macrotia	4	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent		9
HP:0000598	HP:0000357	Abnormal location of ears	4	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000598	HP:0011039	Abnormal helix morphology	4	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000598	HP:0000357	Abnormal location of ears	4	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000598	HP:0000411	Protruding ear	4	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000598	HP:0000400	Macrotia	4	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional		2
HP:0000598	HP:0000400	Macrotia	4	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000357	Abnormal location of ears	4	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000598	HP:0000357	Abnormal location of ears	4	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare
HP:0000598	HP:0011039	Abnormal helix morphology	4	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000598	HP:0000357	Abnormal location of ears	4	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000598	HP:0000378	Cupped ear	4	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent		28
HP:0000598	HP:0000378	Cupped ear	4	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000598	HP:0000400	Macrotia	4	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000598	HP:0000411	Protruding ear	4	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0000598	HP:0000378	Cupped ear	4	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040281 - Very frequent		28
HP:0000598	HP:0000411	Protruding ear	4	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040281 - Very frequent		28
HP:0000598	HP:0000378	Cupped ear	4	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent		28
HP:0000598	HP:0000400	Macrotia	4	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent		28
HP:0000598	HP:0000400	Macrotia	4	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040283 - Occasional		28
HP:0000598	HP:0000405	Conductive hearing impairment	4	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0000598	HP:0000357	Abnormal location of ears	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0000405	Conductive hearing impairment	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0000598	HP:0008551	Microtia	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		148
HP:0000598	HP:0000405	Conductive hearing impairment	4	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		58
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		58
HP:0000598	HP:0000357	Abnormal location of ears	4	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000598	HP:0000400	Macrotia	4	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000598	HP:0000357	Abnormal location of ears	4	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040284 - Very rare		58
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0000598	HP:0000357	Abnormal location of ears	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000598	HP:0008551	Microtia	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000598	HP:0002321	Vertigo	4	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		134
HP:0000598	HP:0000357	Abnormal location of ears	4	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000598	HP:0000403	Recurrent otitis media	4	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000598	HP:0000403	Recurrent otitis media	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0000598	HP:0000389	Chronic otitis media	4	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		10
HP:0000598	HP:0000357	Abnormal location of ears	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008551	Microtia	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional		42
HP:0000598	HP:0000357	Abnormal location of ears	4	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		34
HP:0000598	HP:0000405	Conductive hearing impairment	4	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		54
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0004454	Abnormal middle ear reflexes	4	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0000405	Conductive hearing impairment	4	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000598	HP:0000405	Conductive hearing impairment	4	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0000598	HP:0000405	Conductive hearing impairment	4	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000598	HP:0000405	Conductive hearing impairment	4	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0000598	HP:0000405	Conductive hearing impairment	4	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0000598	HP:0000405	Conductive hearing impairment	4	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		159
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	.		49
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPS1 CL E G H	5631	9462	OMIM:304500	DEAFNESS, X-LINKED 1; DFNX1			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent		49
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	4	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0000598	HP:0012715	Profound hearing impairment	4	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000598	HP:0000357	Abnormal location of ears	4	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity	.		49
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040282 - Frequent		49
HP:0000598	HP:0000357	Abnormal location of ears	4	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0000598	HP:0000357	Abnormal location of ears	4	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0000378	Cupped ear	4	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0009900	Unilateral deafness	4	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0002321	Vertigo	4	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0000598	HP:0000357	Abnormal location of ears	4	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0000598	HP:0000357	Abnormal location of ears	4	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0000598	HP:0000405	Conductive hearing impairment	4	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.		4
HP:0000598	HP:0000389	Chronic otitis media	4	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000598	HP:0000400	Macrotia	4	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.		8
HP:0000598	HP:0000411	Protruding ear	4	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.		8
HP:0000598	HP:0000357	Abnormal location of ears	4	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		81
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		81
HP:0000598	HP:0000357	Abnormal location of ears	4	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		241
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		59
HP:0000598	HP:0000400	Macrotia	4	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0000598	HP:0000403	Recurrent otitis media	4	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0000598	HP:0100830	Round ear	4	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000598	HP:0000403	Recurrent otitis media	4	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0000405	Conductive hearing impairment	4	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0008551	Microtia	4	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0000357	Abnormal location of ears	4	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000598	HP:0000400	Macrotia	4	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0000598	HP:0000357	Abnormal location of ears	4	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0000598	HP:0009894	Thickened ears	4	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent		665
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000598	HP:0000400	Macrotia	4	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0000598	HP:0000400	Macrotia	4	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0000598	HP:0000400	Macrotia	4	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0000598	HP:0000357	Abnormal location of ears	4	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0000598	HP:0000357	Abnormal location of ears	4	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000598	HP:0000400	Macrotia	4	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		948
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000598	HP:0000357	Abnormal location of ears	4	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0000598	HP:0000357	Abnormal location of ears	4	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0000598	HP:0000357	Abnormal location of ears	4	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0000598	HP:0000357	Abnormal location of ears	4	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0000598	HP:0000411	Protruding ear	4	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0000598	HP:0000357	Abnormal location of ears	4	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		291
HP:0000598	HP:0011039	Abnormal helix morphology	4	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0000357	Abnormal location of ears	4	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0000598	HP:0000357	Abnormal location of ears	4	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		291
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	4	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		291
HP:0000598	HP:0012714	Severe hearing impairment	4	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0000598	HP:0000405	Conductive hearing impairment	4	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000598	HP:0002321	Vertigo	4	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000598	HP:0000389	Chronic otitis media	4	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		3
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040281 - Very frequent		6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0000598	HP:0000357	Abnormal location of ears	4	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000598	HP:0000357	Abnormal location of ears	4	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0000598	HP:0008572	External ear malformation	4	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional		53
HP:0000598	HP:0000357	Abnormal location of ears	4	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000357	Abnormal location of ears	4	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	HP:0040284 - Very rare
HP:0000598	HP:0000411	Protruding ear	4	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000598	HP:0000411	Protruding ear	4	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0000598	HP:0000357	Abnormal location of ears	4	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0000598	HP:0011039	Abnormal helix morphology	4	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0000598	HP:0000357	Abnormal location of ears	4	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0000598	HP:0000357	Abnormal location of ears	4	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000598	HP:0000400	Macrotia	4	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0000598	HP:0000411	Protruding ear	4	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent		11
HP:0000598	HP:0011039	Abnormal helix morphology	4	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000598	HP:0000357	Abnormal location of ears	4	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0000598	HP:0000357	Abnormal location of ears	4	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000598	HP:0000378	Cupped ear	4	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000598	HP:0000400	Macrotia	4	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000598	HP:0000357	Abnormal location of ears	4	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0000598	HP:0000400	Macrotia	4	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		85
HP:0000598	HP:0000400	Macrotia	4	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0000598	HP:0000357	Abnormal location of ears	4	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0000405	Conductive hearing impairment	4	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0000357	Abnormal location of ears	4	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040283 - Occasional		90
HP:0000598	HP:0000400	Macrotia	4	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0000598	HP:0000357	Abnormal location of ears	4	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0000598	HP:0000400	Macrotia	4	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		90
HP:0000598	HP:0000357	Abnormal location of ears	4	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0000598	HP:0000400	Macrotia	4	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0000598	HP:0000357	Abnormal location of ears	4	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040283 - Occasional		135
HP:0000598	HP:0000357	Abnormal location of ears	4	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000598	HP:0009896	Abnormal antitragus morphology	4	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000598	HP:0000357	Abnormal location of ears	4	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0000598	HP:0000400	Macrotia	4	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0000357	Abnormal location of ears	4	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0000598	HP:0000400	Macrotia	4	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0000598	HP:0000357	Abnormal location of ears	4	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000598	HP:0000357	Abnormal location of ears	4	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000598	HP:0000403	Recurrent otitis media	4	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.		3
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0000598	HP:0000403	Recurrent otitis media	4	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0000598	HP:0000403	Recurrent otitis media	4	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0000598	HP:0000357	Abnormal location of ears	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0000400	Macrotia	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0000598	HP:0000405	Conductive hearing impairment	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		25
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		25
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0000598	HP:0000357	Abnormal location of ears	4	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000598	HP:0008572	External ear malformation	4	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0000598	HP:0008572	External ear malformation	4	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		212
HP:0000598	HP:0000357	Abnormal location of ears	4	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0000598	HP:0000357	Abnormal location of ears	4	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		212
HP:0000598	HP:0011039	Abnormal helix morphology	4	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0000357	Abnormal location of ears	4	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0000598	HP:0011039	Abnormal helix morphology	4	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0000598	HP:0000357	Abnormal location of ears	4	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		212
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	4	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		212
HP:0000598	HP:0012714	Severe hearing impairment	4	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0000598	HP:0000357	Abnormal location of ears	4	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0000598	HP:0000389	Chronic otitis media	4	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		150
HP:0000598	HP:0000405	Conductive hearing impairment	4	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		150
HP:0000598	HP:0000357	Abnormal location of ears	4	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000598	HP:0000357	Abnormal location of ears	4	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0000598	HP:0000357	Abnormal location of ears	4	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0000598	HP:0000357	Abnormal location of ears	4	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0000598	HP:0002321	Vertigo	4	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		2
HP:0000598	HP:0000357	Abnormal location of ears	4	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0000598	HP:0000357	Abnormal location of ears	4	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0011039	Abnormal helix morphology	4	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0000357	Abnormal location of ears	4	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0000598	HP:0000411	Protruding ear	4	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent		365
HP:0000598	HP:0011039	Abnormal helix morphology	4	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		68
HP:0000598	HP:0000357	Abnormal location of ears	4	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0000598	HP:0000357	Abnormal location of ears	4	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0000598	HP:0008551	Microtia	4	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.		16
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		363
HP:0000598	HP:0000357	Abnormal location of ears	4	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0000400	Macrotia	4	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0000405	Conductive hearing impairment	4	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0000598	HP:0000357	Abnormal location of ears	4	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000598	HP:0000400	Macrotia	4	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000405	Conductive hearing impairment	4	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		32
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24			97
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	4	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24	.		97
HP:0000598	HP:0012715	Profound hearing impairment	4	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24			97
HP:0000598	HP:0000357	Abnormal location of ears	4	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000598	HP:0000405	Conductive hearing impairment	4	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0000598	HP:0000405	Conductive hearing impairment	4	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional		445
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000598	HP:0011039	Abnormal helix morphology	4	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000598	HP:0000405	Conductive hearing impairment	4	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000598	HP:0000403	Recurrent otitis media	4	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53	.		1
HP:0000598	HP:0000357	Abnormal location of ears	4	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0000598	HP:0000357	Abnormal location of ears	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0000405	Conductive hearing impairment	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0008551	Microtia	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0000357	Abnormal location of ears	4	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0000357	Abnormal location of ears	4	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	REST CL E G H	5978	9966	OMIM:612431	DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27			7
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		572
HP:0000598	HP:0000405	Conductive hearing impairment	4	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		572
HP:0000598	HP:0002321	Vertigo	4	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000598	HP:0008629	Pulsatile tinnitus	4	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		572
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		572
HP:0000598	HP:0000357	Abnormal location of ears	4	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0000598	HP:0000405	Conductive hearing impairment	4	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional		572
HP:0000598	HP:0002321	Vertigo	4	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0000598	HP:0008629	Pulsatile tinnitus	4	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		572
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0000598	HP:0007670	Abnormal vestibulo-ocular reflex	4	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0000598	HP:0007670	Abnormal vestibulo-ocular reflex	4	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0000598	HP:0008572	External ear malformation	4	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000598	HP:0000371	Acute otitis media	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional		38
HP:0000598	HP:0000371	Acute otitis media	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional		26
HP:0000598	HP:0000371	Acute otitis media	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional		34
HP:0000598	HP:0000405	Conductive hearing impairment	4	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000598	HP:0000405	Conductive hearing impairment	4	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		107
HP:0000598	HP:0000400	Macrotia	4	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.		1
HP:0000598	HP:0008551	Microtia	4	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000598	HP:0000357	Abnormal location of ears	4	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000598	HP:0000378	Cupped ear	4	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	HP:0040283 - Occasional		69
HP:0000598	HP:0008551	Microtia	4	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21	.		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104			1
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104			1
HP:0000598	HP:0000357	Abnormal location of ears	4	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0000598	HP:0000357	Abnormal location of ears	4	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		39
HP:0000598	HP:0011039	Abnormal helix morphology	4	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0000357	Abnormal location of ears	4	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0000598	HP:0000405	Conductive hearing impairment	4	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		47
HP:0000598	HP:0000357	Abnormal location of ears	4	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000598	HP:0000400	Macrotia	4	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional		37
HP:0000598	HP:0000357	Abnormal location of ears	4	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0000598	HP:0000357	Abnormal location of ears	4	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0000598	HP:0000357	Abnormal location of ears	4	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0000598	HP:0000357	Abnormal location of ears	4	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional		37
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000598	HP:0000411	Protruding ear	4	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0000598	HP:0009912	Abnormal tragus morphology	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040282 - Frequent		15
HP:0000598	HP:0000357	Abnormal location of ears	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0000598	HP:0008551	Microtia	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0000598	HP:0000403	Recurrent otitis media	4	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.		15
HP:0000598	HP:0000403	Recurrent otitis media	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0000598	HP:0000357	Abnormal location of ears	4	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040283 - Occasional		90
HP:0000598	HP:0000405	Conductive hearing impairment	4	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108			1
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108			1
HP:0000598	HP:0000357	Abnormal location of ears	4	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000598	HP:0000389	Chronic otitis media	4	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		120
HP:0000598	HP:0000357	Abnormal location of ears	4	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000598	HP:0000405	Conductive hearing impairment	4	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0000598	HP:0000405	Conductive hearing impairment	4	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0000598	HP:0000405	Conductive hearing impairment	4	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000598	HP:0000405	Conductive hearing impairment	4	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000598	HP:0000405	Conductive hearing impairment	4	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000598	HP:0000389	Chronic otitis media	4	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		200
HP:0000598	HP:0000403	Recurrent otitis media	4	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		200
HP:0000598	HP:0000405	Conductive hearing impairment	4	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		200
HP:0000598	HP:0000405	Conductive hearing impairment	4	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0000598	HP:0005101	High-frequency hearing impairment	4	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS			200
HP:0000598	HP:0000357	Abnormal location of ears	4	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0000598	HP:0000357	Abnormal location of ears	4	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000598	HP:0000357	Abnormal location of ears	4	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0000598	HP:0000357	Abnormal location of ears	4	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0000598	HP:0000411	Protruding ear	4	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000598	HP:0000357	Abnormal location of ears	4	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000598	HP:0000400	Macrotia	4	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0000411	Protruding ear	4	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0000411	Protruding ear	4	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0000357	Abnormal location of ears	4	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0008551	Microtia	4	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0000403	Recurrent otitis media	4	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0000598	HP:0000357	Abnormal location of ears	4	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0008551	Microtia	4	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0000357	Abnormal location of ears	4	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0008551	Microtia	4	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000357	Abnormal location of ears	4	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0008551	Microtia	4	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.		3
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.		3
HP:0000598	HP:0000357	Abnormal location of ears	4	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008551	Microtia	4	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000357	Abnormal location of ears	4	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0008551	Microtia	4	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000357	Abnormal location of ears	4	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0008551	Microtia	4	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000357	Abnormal location of ears	4	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0000598	HP:0008551	Microtia	4	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0000598	HP:0000357	Abnormal location of ears	4	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0000598	HP:0000357	Abnormal location of ears	4	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0000598	HP:0008551	Microtia	4	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0000598	HP:0008551	Microtia	4	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0008551	Microtia	4	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0000598	HP:0008551	Microtia	4	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0000598	HP:0008551	Microtia	4	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008551	Microtia	4	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0000405	Conductive hearing impairment	4	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0011039	Abnormal helix morphology	4	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0008551	Microtia	4	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0008551	Microtia	4	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0000405	Conductive hearing impairment	4	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0000598	HP:0008551	Microtia	4	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008551	Microtia	4	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008551	Microtia	4	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0000405	Conductive hearing impairment	4	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0000598	HP:0000410	Mixed hearing impairment	4	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0000598	HP:0008551	Microtia	4	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0008551	Microtia	4	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional		65
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0000598	HP:0000411	Protruding ear	4	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent		65
HP:0000598	HP:0000411	Protruding ear	4	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0000598	HP:0000357	Abnormal location of ears	4	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0008551	Microtia	4	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000598	HP:0000357	Abnormal location of ears	4	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000598	HP:0011039	Abnormal helix morphology	4	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0011039	Abnormal helix morphology	4	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0000357	Abnormal location of ears	4	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0011039	Abnormal helix morphology	4	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		125
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000598	HP:0000389	Chronic otitis media	4	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		31
HP:0000598	HP:0000403	Recurrent otitis media	4	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		31
HP:0000598	HP:0000405	Conductive hearing impairment	4	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		31
HP:0000598	HP:0000403	Recurrent otitis media	4	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32			5
HP:0000598	HP:0000389	Chronic otitis media	4	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		5
HP:0000598	HP:0000403	Recurrent otitis media	4	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		5
HP:0000598	HP:0000405	Conductive hearing impairment	4	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		5
HP:0000598	HP:0000389	Chronic otitis media	4	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		58
HP:0000598	HP:0000403	Recurrent otitis media	4	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		58
HP:0000598	HP:0000405	Conductive hearing impairment	4	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		58
HP:0000598	HP:0000389	Chronic otitis media	4	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0000598	HP:0000389	Chronic otitis media	4	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		20
HP:0000598	HP:0000403	Recurrent otitis media	4	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		20
HP:0000598	HP:0000405	Conductive hearing impairment	4	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0000598	HP:0000357	Abnormal location of ears	4	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000598	HP:0008551	Microtia	4	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000598	HP:0008551	Microtia	4	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000598	HP:0000357	Abnormal location of ears	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000598	HP:0008551	Microtia	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000598	HP:0000403	Recurrent otitis media	4	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000598	HP:0000403	Recurrent otitis media	4	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0000598	HP:0000357	Abnormal location of ears	4	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000598	HP:0000357	Abnormal location of ears	4	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0000598	HP:0011039	Abnormal helix morphology	4	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0000389	Chronic otitis media	4	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040282 - Frequent		90
HP:0000598	HP:0000357	Abnormal location of ears	4	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0000598	HP:0000357	Abnormal location of ears	4	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000598	HP:0000411	Protruding ear	4	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000411	Protruding ear	4	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0000598	HP:0002321	Vertigo	4	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040282 - Frequent		1200
HP:0000598	HP:0000357	Abnormal location of ears	4	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0000598	HP:0002321	Vertigo	4	RYR2 CL E G H	6262	10484	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent		1103
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	S1PR2 CL E G H	9294	3169	OMIM:610419	Deafness, autosomal recessive 68	.		2
HP:0000598	HP:0000405	Conductive hearing impairment	4	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0000598	HP:0008551	Microtia	4	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent		124
HP:0000598	HP:0008572	External ear malformation	4	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent		124
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000598	HP:0009912	Abnormal tragus morphology	4	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0000598	HP:0011039	Abnormal helix morphology	4	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000598	HP:0000394	Lop ear	4	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0000400	Macrotia	4	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0008551	Microtia	4	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0011039	Abnormal helix morphology	4	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0030676	Satyr ear	4	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0000405	Conductive hearing impairment	4	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent		86
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent		86
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent		86
HP:0000598	HP:0008572	External ear malformation	4	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.		86
HP:0000598	HP:0000357	Abnormal location of ears	4	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000598	HP:0000357	Abnormal location of ears	4	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000598	HP:0000357	Abnormal location of ears	4	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0000598	HP:0000357	Abnormal location of ears	4	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0000598	HP:0000357	Abnormal location of ears	4	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0000598	HP:0000405	Conductive hearing impairment	4	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000598	HP:0000357	Abnormal location of ears	4	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000598	HP:0000411	Protruding ear	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0000598	HP:0011039	Abnormal helix morphology	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000598	HP:0001730	Progressive hearing impairment	4	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000598	HP:0002321	Vertigo	4	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0000598	HP:0002321	Vertigo	4	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		126
HP:0000598	HP:0002321	Vertigo	4	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0000598	HP:0002321	Vertigo	4	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional		1134
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		1134
HP:0000598	HP:0002321	Vertigo	4	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		1134
HP:0000598	HP:0000357	Abnormal location of ears	4	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000598	HP:0000378	Cupped ear	4	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000598	HP:0011039	Abnormal helix morphology	4	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000598	HP:0000357	Abnormal location of ears	4	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000598	HP:0000357	Abnormal location of ears	4	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0000598	HP:0000403	Recurrent otitis media	4	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.		61
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		304
HP:0000598	HP:0000405	Conductive hearing impairment	4	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		304
HP:0000598	HP:0002321	Vertigo	4	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000598	HP:0008629	Pulsatile tinnitus	4	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		304
HP:0000598	HP:0002321	Vertigo	4	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000598	HP:0000405	Conductive hearing impairment	4	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		55
HP:0000598	HP:0002321	Vertigo	4	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000598	HP:0008629	Pulsatile tinnitus	4	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		55
HP:0000598	HP:0008629	Pulsatile tinnitus	4	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.		55
HP:0000598	HP:0000405	Conductive hearing impairment	4	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		237
HP:0000598	HP:0002321	Vertigo	4	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000598	HP:0008629	Pulsatile tinnitus	4	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		237
HP:0000598	HP:0008629	Pulsatile tinnitus	4	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.		237
HP:0000598	HP:0000405	Conductive hearing impairment	4	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional		237
HP:0000598	HP:0002321	Vertigo	4	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0000598	HP:0008629	Pulsatile tinnitus	4	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		237
HP:0000598	HP:0000405	Conductive hearing impairment	4	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		147
HP:0000598	HP:0002321	Vertigo	4	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000598	HP:0008629	Pulsatile tinnitus	4	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		147
HP:0000598	HP:0008629	Pulsatile tinnitus	4	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.		147
HP:0000598	HP:0000405	Conductive hearing impairment	4	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		129
HP:0000598	HP:0002321	Vertigo	4	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000598	HP:0008629	Pulsatile tinnitus	4	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		129
HP:0000598	HP:0000405	Conductive hearing impairment	4	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.		129
HP:0000598	HP:0008629	Pulsatile tinnitus	4	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.		129
HP:0000598	HP:0000405	Conductive hearing impairment	4	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional		129
HP:0000598	HP:0002321	Vertigo	4	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0000598	HP:0008629	Pulsatile tinnitus	4	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		129
HP:0000598	HP:0000389	Chronic otitis media	4	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		2
HP:0000598	HP:0011039	Abnormal helix morphology	4	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent		2
HP:0000598	HP:0000357	Abnormal location of ears	4	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0011039	Abnormal helix morphology	4	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		2
HP:0000598	HP:0000357	Abnormal location of ears	4	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0008551	Microtia	4	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0008572	External ear malformation	4	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		16
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0011039	Abnormal helix morphology	4	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0000405	Conductive hearing impairment	4	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000598	HP:0000357	Abnormal location of ears	4	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0000598	HP:0000357	Abnormal location of ears	4	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.		47
HP:0000598	HP:0001730	Progressive hearing impairment	4	SERPINB6 CL E G H	5269	8950	OMIM:613453	Deafness, autosomal recessive 91	.		29
HP:0000598	HP:0000357	Abnormal location of ears	4	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0000598	HP:0000400	Macrotia	4	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.		1
HP:0000598	HP:0000357	Abnormal location of ears	4	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0000598	HP:0000357	Abnormal location of ears	4	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000598	HP:0000357	Abnormal location of ears	4	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0000598	HP:0000357	Abnormal location of ears	4	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0011039	Abnormal helix morphology	4	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent		143
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0000357	Abnormal location of ears	4	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0008551	Microtia	4	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0000403	Recurrent otitis media	4	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.		60
HP:0000598	HP:0000389	Chronic otitis media	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0000598	HP:0000405	Conductive hearing impairment	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0000598	HP:0009797	Cholesteatoma	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0000598	HP:0000357	Abnormal location of ears	4	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000598	HP:0000357	Abnormal location of ears	4	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000598	HP:0000405	Conductive hearing impairment	4	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0000598	HP:0008551	Microtia	4	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0000598	HP:0008605	Unilateral external ear deformity	4	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0009892	Anotia	4	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0000598	HP:0009912	Abnormal tragus morphology	4	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0000357	Abnormal location of ears	4	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0000598	HP:0000405	Conductive hearing impairment	4	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0000598	HP:0008551	Microtia	4	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040281 - Very frequent		49
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0000598	HP:0000357	Abnormal location of ears	4	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent		49
HP:0000598	HP:0008551	Microtia	4	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent		49
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		223
HP:0000598	HP:0000405	Conductive hearing impairment	4	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000598	HP:0000410	Mixed hearing impairment	4	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	HP:0040284 - Very rare
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0000598	HP:0000405	Conductive hearing impairment	4	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0002321	Vertigo	4	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.		4
HP:0000598	HP:0000403	Recurrent otitis media	4	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.		2
HP:0000598	HP:0000357	Abnormal location of ears	4	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0000598	HP:0000411	Protruding ear	4	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0000598	HP:0000411	Protruding ear	4	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent		134
HP:0000598	HP:0020206	Simple ear	4	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional		493
HP:0000598	HP:0000400	Macrotia	4	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent		53
HP:0000598	HP:0000400	Macrotia	4	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000598	HP:0000411	Protruding ear	4	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.		53
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000598	HP:0000357	Abnormal location of ears	4	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0000598	HP:0000400	Macrotia	4	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent		74
HP:0000598	HP:0000357	Abnormal location of ears	4	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000598	HP:0000357	Abnormal location of ears	4	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000598	HP:0008551	Microtia	4	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000598	HP:0000357	Abnormal location of ears	4	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0000598	HP:0008551	Microtia	4	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional		40
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0000378	Cupped ear	4	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.		9
HP:0000598	HP:0000400	Macrotia	4	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.		9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0000411	Protruding ear	4	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0011039	Abnormal helix morphology	4	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0008572	External ear malformation	4	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0000405	Conductive hearing impairment	4	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000378	Cupped ear	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000405	Conductive hearing impairment	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000410	Mixed hearing impairment	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0008551	Microtia	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0009797	Cholesteatoma	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.		50
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000405	Conductive hearing impairment	4	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0000598	HP:0000357	Abnormal location of ears	4	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0008572	External ear malformation	4	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.		20
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0000598	HP:0000357	Abnormal location of ears	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0000405	Conductive hearing impairment	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0000598	HP:0008551	Microtia	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0000357	Abnormal location of ears	4	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0000405	Conductive hearing impairment	4	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0000357	Abnormal location of ears	4	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000598	HP:0000405	Conductive hearing impairment	4	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0000598	HP:0000411	Protruding ear	4	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0000598	HP:0000357	Abnormal location of ears	4	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000598	HP:0008551	Microtia	4	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	4	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0000598	HP:0012715	Profound hearing impairment	4	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0002321	Vertigo	4	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0000598	HP:0002321	Vertigo	4	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0000598	HP:0000400	Macrotia	4	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0000598	HP:0000400	Macrotia	4	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000598	HP:0011039	Abnormal helix morphology	4	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC17A8 CL E G H	246213	20151	OMIM:605583	DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25			64
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040281 - Very frequent		55
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0000598	HP:0002321	Vertigo	4	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6	HP:0040281 - Very frequent		63
HP:0000598	HP:0002321	Vertigo	4	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.		63
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0000598	HP:0000411	Protruding ear	4	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0000598	HP:0000405	Conductive hearing impairment	4	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0000598	HP:0002321	Vertigo	4	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000598	HP:0008629	Pulsatile tinnitus	4	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0000598	HP:0000389	Chronic otitis media	4	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0000598	HP:0011039	Abnormal helix morphology	4	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	4	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0000598	HP:0010723	Cystic lesions of the pinnae	4	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0000598	HP:0011039	Abnormal helix morphology	4	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional		166
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct	.		274
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct			274
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		274
HP:0000598	HP:0002321	Vertigo	4	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		274
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.		274
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	4	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC26A5 CL E G H	375611	9359	OMIM:613865	DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61			49
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0000598	HP:0000400	Macrotia	4	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional		255
HP:0000598	HP:0000400	Macrotia	4	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent		178
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000598	HP:0001730	Progressive hearing impairment	4	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional		27
HP:0000598	HP:0000403	Recurrent otitis media	4	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0000403	Recurrent otitis media	4	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0000598	HP:0000405	Conductive hearing impairment	4	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0000598	HP:0008551	Microtia	4	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000598	HP:0000403	Recurrent otitis media	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72	.		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040283 - Occasional		66
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome	HP:0040281 - Very frequent		66
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.		47
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040284 - Very rare		59
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0000598	HP:0000400	Macrotia	4	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0000598	HP:0000400	Macrotia	4	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040282 - Frequent		12
HP:0000598	HP:0011039	Abnormal helix morphology	4	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000598	HP:0000357	Abnormal location of ears	4	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0000598	HP:0000405	Conductive hearing impairment	4	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000598	HP:0000400	Macrotia	4	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent		93
HP:0000598	HP:0000400	Macrotia	4	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0000598	HP:0000405	Conductive hearing impairment	4	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia	.		4
HP:0000598	HP:0012715	Profound hearing impairment	4	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia	.		4
HP:0000598	HP:0008572	External ear malformation	4	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0000598	HP:0000357	Abnormal location of ears	4	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0000598	HP:0000357	Abnormal location of ears	4	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000598	HP:0008551	Microtia	4	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000598	HP:0000357	Abnormal location of ears	4	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000598	HP:0000403	Recurrent otitis media	4	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0000598	HP:0008551	Microtia	4	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000598	HP:0000357	Abnormal location of ears	4	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000598	HP:0000400	Macrotia	4	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000598	HP:0000357	Abnormal location of ears	4	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0000598	HP:0000403	Recurrent otitis media	4	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0000598	HP:0020206	Simple ear	4	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0000598	HP:0000357	Abnormal location of ears	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0000400	Macrotia	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0000598	HP:0000405	Conductive hearing impairment	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0000598	HP:0000357	Abnormal location of ears	4	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000598	HP:0011039	Abnormal helix morphology	4	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0000598	HP:0000357	Abnormal location of ears	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0000400	Macrotia	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0000598	HP:0000405	Conductive hearing impairment	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		91
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		91
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0000598	HP:0000357	Abnormal location of ears	4	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000598	HP:0000405	Conductive hearing impairment	4	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0009912	Abnormal tragus morphology	4	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		174
HP:0000598	HP:0000357	Abnormal location of ears	4	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000598	HP:0000400	Macrotia	4	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000598	HP:0000403	Recurrent otitis media	4	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0000598	HP:0000357	Abnormal location of ears	4	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		22
HP:0000598	HP:0000357	Abnormal location of ears	4	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0000598	HP:0000357	Abnormal location of ears	4	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0000598	HP:0000357	Abnormal location of ears	4	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000598	HP:0000411	Protruding ear	4	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4	.		12
HP:0000598	HP:0005101	High-frequency hearing impairment	4	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4	.		12
HP:0000598	HP:0000357	Abnormal location of ears	4	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0000598	HP:0000378	Cupped ear	4	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare		19
HP:0000598	HP:0011039	Abnormal helix morphology	4	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		19
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D			19
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D	.		19
HP:0000598	HP:0000357	Abnormal location of ears	4	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000598	HP:0000400	Macrotia	4	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040283 - Occasional		94
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040283 - Occasional		94
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	.		94
HP:0000598	HP:0000405	Conductive hearing impairment	4	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0000598	HP:0000357	Abnormal location of ears	4	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0000598	HP:0000405	Conductive hearing impairment	4	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0000598	HP:0000405	Conductive hearing impairment	4	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent		14
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	HP:0040283 - Occasional		14
HP:0000598	HP:0000357	Abnormal location of ears	4	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0000598	HP:0000357	Abnormal location of ears	4	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000598	HP:0000411	Protruding ear	4	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000598	HP:0000357	Abnormal location of ears	4	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000598	HP:0000411	Protruding ear	4	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000598	HP:0000357	Abnormal location of ears	4	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		315
HP:0000598	HP:0011039	Abnormal helix morphology	4	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0000357	Abnormal location of ears	4	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000598	HP:0011039	Abnormal helix morphology	4	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000598	HP:0000357	Abnormal location of ears	4	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		30
HP:0000598	HP:0011039	Abnormal helix morphology	4	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040282 - Frequent		26
HP:0000598	HP:0000405	Conductive hearing impairment	4	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040282 - Frequent		26
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040282 - Frequent		26
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040282 - Frequent		26
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent		61
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		61
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.		61
HP:0000598	HP:0000357	Abnormal location of ears	4	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.		33
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		33
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		24
HP:0000598	HP:0000357	Abnormal location of ears	4	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0000598	HP:0000357	Abnormal location of ears	4	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0000598	HP:0000357	Abnormal location of ears	4	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0000400	Macrotia	4	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0000357	Abnormal location of ears	4	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0000598	HP:0000357	Abnormal location of ears	4	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000598	HP:0000405	Conductive hearing impairment	4	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000598	HP:0001730	Progressive hearing impairment	4	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.		34
HP:0000598	HP:0000403	Recurrent otitis media	4	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.		45
HP:0000598	HP:0000389	Chronic otitis media	4	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		45
HP:0000598	HP:0000403	Recurrent otitis media	4	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		45
HP:0000598	HP:0000405	Conductive hearing impairment	4	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		45
HP:0000598	HP:0000357	Abnormal location of ears	4	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040281 - Very frequent		19
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0000598	HP:0000405	Conductive hearing impairment	4	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000598	HP:0000357	Abnormal location of ears	4	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0000598	HP:0011039	Abnormal helix morphology	4	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000389	Chronic otitis media	4	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		15
HP:0000598	HP:0000403	Recurrent otitis media	4	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		15
HP:0000598	HP:0000405	Conductive hearing impairment	4	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		15
HP:0000598	HP:0000411	Protruding ear	4	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0000598	HP:0000357	Abnormal location of ears	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0000405	Conductive hearing impairment	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0008551	Microtia	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0000357	Abnormal location of ears	4	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0000405	Conductive hearing impairment	4	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0000357	Abnormal location of ears	4	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies			6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SPNS2 CL E G H	124976	26992	OMIM:618457	Deafness, autosomal recessive 115	.
HP:0000598	HP:0011039	Abnormal helix morphology	4	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000598	HP:0000357	Abnormal location of ears	4	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0000411	Protruding ear	4	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0008551	Microtia	4	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0000357	Abnormal location of ears	4	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0000598	HP:0009588	Vestibular schwannoma	4	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0000598	HP:0000357	Abnormal location of ears	4	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000598	HP:0011039	Abnormal helix morphology	4	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0011376	Morphological abnormality of the vestibule of the inner ear	4	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		5
HP:0000598	HP:0000378	Cupped ear	4	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0000411	Protruding ear	4	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.		54
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		62
HP:0000598	HP:0000411	Protruding ear	4	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000598	HP:0000357	Abnormal location of ears	4	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000598	HP:0000357	Abnormal location of ears	4	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000598	HP:0000403	Recurrent otitis media	4	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0000598	HP:0000405	Conductive hearing impairment	4	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0000598	HP:0000405	Conductive hearing impairment	4	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0000598	HP:0000357	Abnormal location of ears	4	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		1
HP:0000598	HP:0000357	Abnormal location of ears	4	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000598	HP:0000403	Recurrent otitis media	4	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0000598	HP:0000400	Macrotia	4	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0000598	HP:0000400	Macrotia	4	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040281 - Very frequent		12
HP:0000598	HP:0000357	Abnormal location of ears	4	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0000598	HP:0000405	Conductive hearing impairment	4	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0000598	HP:0000405	Conductive hearing impairment	4	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040283 - Occasional		14
HP:0000598	HP:0000357	Abnormal location of ears	4	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0008551	Microtia	4	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0000357	Abnormal location of ears	4	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0000598	HP:0008551	Microtia	4	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0000598	HP:0002321	Vertigo	4	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		110
HP:0000598	HP:0000389	Chronic otitis media	4	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent		110
HP:0000598	HP:0002321	Vertigo	4	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0000598	HP:0002321	Vertigo	4	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0000598	HP:0000400	Macrotia	4	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000598	HP:0011039	Abnormal helix morphology	4	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000598	HP:0000403	Recurrent otitis media	4	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46			3
HP:0000598	HP:0000389	Chronic otitis media	4	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		3
HP:0000598	HP:0000403	Recurrent otitis media	4	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		3
HP:0000598	HP:0000405	Conductive hearing impairment	4	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		3
HP:0000598	HP:0000357	Abnormal location of ears	4	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0000598	HP:0000357	Abnormal location of ears	4	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STRC CL E G H	161497	16035	OMIM:603720	DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16			78
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility			78
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility	.		78
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome	HP:0040281 - Very frequent		78
HP:0000598	HP:0400004	Long ear	4	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040284 - Very rare		85
HP:0000598	HP:0000357	Abnormal location of ears	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040284 - Very rare		70
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0000598	HP:0008573	Low-frequency sensorineural hearing impairment	4	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0000598	HP:0000357	Abnormal location of ears	4	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0000598	HP:0000389	Chronic otitis media	4	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		4
HP:0000598	HP:0011039	Abnormal helix morphology	4	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent		80
HP:0000598	HP:0000400	Macrotia	4	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0000598	HP:0000357	Abnormal location of ears	4	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000598	HP:0000378	Cupped ear	4	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000598	HP:0011039	Abnormal helix morphology	4	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0000598	HP:0000357	Abnormal location of ears	4	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0000598	HP:0000400	Macrotia	4	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000403	Recurrent otitis media	4	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0000598	HP:0009797	Cholesteatoma	4	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0000598	HP:0000400	Macrotia	4	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76			21
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76	.		21
HP:0000598	HP:0001730	Progressive hearing impairment	4	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76			21
HP:0000598	HP:0000357	Abnormal location of ears	4	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0000598	HP:0000400	Macrotia	4	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0000598	HP:0000357	Abnormal location of ears	4	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0000598	HP:0000357	Abnormal location of ears	4	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		6
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		34
HP:0000598	HP:0000357	Abnormal location of ears	4	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000389	Chronic otitis media	4	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000400	Macrotia	4	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000411	Protruding ear	4	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0009894	Thickened ears	4	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0011039	Abnormal helix morphology	4	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000357	Abnormal location of ears	4	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000598	HP:0000389	Chronic otitis media	4	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040282 - Frequent		21
HP:0000598	HP:0000411	Protruding ear	4	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent		21
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000598	HP:0000400	Macrotia	4	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000598	HP:0000357	Abnormal location of ears	4	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional		12
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040284 - Very rare		12
HP:0000598	HP:0000357	Abnormal location of ears	4	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0000403	Recurrent otitis media	4	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0000389	Chronic otitis media	4	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.		5
HP:0000598	HP:0000389	Chronic otitis media	4	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.		17
HP:0000598	HP:0000389	Chronic otitis media	4	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.		3
HP:0000598	HP:0000357	Abnormal location of ears	4	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000598	HP:0000400	Macrotia	4	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		65
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000598	HP:0000411	Protruding ear	4	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000598	HP:0000357	Abnormal location of ears	4	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0000411	Protruding ear	4	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0011039	Abnormal helix morphology	4	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0000357	Abnormal location of ears	4	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0000598	HP:0000400	Macrotia	4	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		15
HP:0000598	HP:0000400	Macrotia	4	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65	.		271
HP:0000598	HP:0000357	Abnormal location of ears	4	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000598	HP:0000357	Abnormal location of ears	4	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		271
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.		271
HP:0000598	HP:0000400	Macrotia	4	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040284 - Very rare		16
HP:0000598	HP:0000357	Abnormal location of ears	4	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0000598	HP:0000357	Abnormal location of ears	4	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0000598	HP:0008572	External ear malformation	4	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent		52
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		20
HP:0000598	HP:0002321	Vertigo	4	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		22
HP:0000598	HP:0000357	Abnormal location of ears	4	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000598	HP:0000357	Abnormal location of ears	4	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000598	HP:0000400	Macrotia	4	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0000598	HP:0000400	Macrotia	4	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TBL1Y CL E G H	90665	18502	OMIM:400047	DEAFNESS, Y-LINKED 2	.
HP:0000598	HP:0000357	Abnormal location of ears	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000357	Abnormal location of ears	4	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0000598	HP:0000357	Abnormal location of ears	4	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0000389	Chronic otitis media	4	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		32
HP:0000598	HP:0000405	Conductive hearing impairment	4	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		32
HP:0000598	HP:0011039	Abnormal helix morphology	4	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0000598	HP:0000357	Abnormal location of ears	4	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000598	HP:0000403	Recurrent otitis media	4	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000598	HP:0008551	Microtia	4	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0000598	HP:0000357	Abnormal location of ears	4	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent		5
HP:0000598	HP:0000357	Abnormal location of ears	4	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000598	HP:0000378	Cupped ear	4	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000598	HP:0011039	Abnormal helix morphology	4	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000598	HP:0000400	Macrotia	4	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040281 - Very frequent		28
HP:0000598	HP:0000405	Conductive hearing impairment	4	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040283 - Occasional		28
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040282 - Frequent		28
HP:0000598	HP:0000400	Macrotia	4	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked	.		28
HP:0000598	HP:0000411	Protruding ear	4	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked	.		28
HP:0000598	HP:0000389	Chronic otitis media	4	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0000598	HP:0000411	Protruding ear	4	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		78
HP:0000598	HP:0000357	Abnormal location of ears	4	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000598	HP:0000403	Recurrent otitis media	4	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant			2
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000598	HP:0011039	Abnormal helix morphology	4	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000598	HP:0000389	Chronic otitis media	4	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		2
HP:0000598	HP:0008572	External ear malformation	4	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		2
HP:0000598	HP:0000378	Cupped ear	4	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0000598	HP:0011039	Abnormal helix morphology	4	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000598	HP:0011039	Abnormal helix morphology	4	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0000598	HP:0000405	Conductive hearing impairment	4	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0008551	Microtia	4	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0000405	Conductive hearing impairment	4	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0000598	HP:0008551	Microtia	4	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000598	HP:0000357	Abnormal location of ears	4	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0000598	HP:0000357	Abnormal location of ears	4	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0000357	Abnormal location of ears	4	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0000598	HP:0000357	Abnormal location of ears	4	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0000598	HP:0000357	Abnormal location of ears	4	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0000598	HP:0000357	Abnormal location of ears	4	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0000598	HP:0000357	Abnormal location of ears	4	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV			31
HP:0000598	HP:0000357	Abnormal location of ears	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0000405	Conductive hearing impairment	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0008551	Microtia	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0011039	Abnormal helix morphology	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0000357	Abnormal location of ears	4	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000598	HP:0000405	Conductive hearing impairment	4	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000598	HP:0002321	Vertigo	4	TECRL CL E G H	253017	27365	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent		4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TECTA CL E G H	7007	11720	OMIM:601543	Deafness, autosomal dominant nonsyndromic sensorineural 12	.		222
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TECTA CL E G H	7007	11720	OMIM:603629	DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21			222
HP:0000598	HP:0000405	Conductive hearing impairment	4	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000598	HP:0000357	Abnormal location of ears	4	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000598	HP:0000400	Macrotia	4	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0000598	HP:0002321	Vertigo	4	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		3
HP:0000598	HP:0000411	Protruding ear	4	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000598	HP:0000357	Abnormal location of ears	4	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000598	HP:0000405	Conductive hearing impairment	4	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent		12
HP:0000598	HP:0000357	Abnormal location of ears	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0000405	Conductive hearing impairment	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000598	HP:0004452	Abnormality of the middle ear ossicles	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0008551	Microtia	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0011039	Abnormal helix morphology	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0000357	Abnormal location of ears	4	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0000598	HP:0000411	Protruding ear	4	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.		104
HP:0000598	HP:0000357	Abnormal location of ears	4	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000598	HP:0000403	Recurrent otitis media	4	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040284 - Very rare		155
HP:0000598	HP:0000357	Abnormal location of ears	4	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0000598	HP:0000357	Abnormal location of ears	4	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0000598	HP:0000389	Chronic otitis media	4	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0011039	Abnormal helix morphology	4	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000598	HP:0000389	Chronic otitis media	4	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		98
HP:0000598	HP:0011039	Abnormal helix morphology	4	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent		98
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000598	HP:0000400	Macrotia	4	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0002321	Vertigo	4	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		23
HP:0000598	HP:0000357	Abnormal location of ears	4	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000598	HP:0001730	Progressive hearing impairment	4	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	4	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	4	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000598	HP:0012714	Severe hearing impairment	4	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000598	HP:0000357	Abnormal location of ears	4	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000598	HP:0002321	Vertigo	4	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0000598	HP:0000403	Recurrent otitis media	4	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TMC1 CL E G H	117531	16513	OMIM:606705	Deafness, autosomal dominant 36	.	HP:0003621 - Juvenile onset	109
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7			109
HP:0000598	HP:0000357	Abnormal location of ears	4	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0000598	HP:0000357	Abnormal location of ears	4	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0000598	HP:0000403	Recurrent otitis media	4	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	HP:0040283 - Occasional		23
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0000598	HP:0000405	Conductive hearing impairment	4	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		131
HP:0000598	HP:0002321	Vertigo	4	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000598	HP:0008629	Pulsatile tinnitus	4	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		131
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TMEM132E CL E G H	124842	26991	OMIM:618481	DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99			1
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000598	HP:0000405	Conductive hearing impairment	4	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0000598	HP:0000405	Conductive hearing impairment	4	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.		166
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0000598	HP:0000357	Abnormal location of ears	4	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000598	HP:0011039	Abnormal helix morphology	4	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		136
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8			111
HP:0000598	HP:0000405	Conductive hearing impairment	4	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.		72
HP:0000598	HP:0000405	Conductive hearing impairment	4	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.		44
HP:0000598	HP:0000389	Chronic otitis media	4	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		32
HP:0000598	HP:0000403	Recurrent otitis media	4	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0000598	HP:0000389	Chronic otitis media	4	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		12
HP:0000598	HP:0000403	Recurrent otitis media	4	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2			12
HP:0000598	HP:0002321	Vertigo	4	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0000598	HP:0000389	Chronic otitis media	4	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		73
HP:0000598	HP:0000411	Protruding ear	4	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		37
HP:0000598	HP:0100830	Round ear	4	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		37
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		180
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		248
HP:0000598	HP:0000411	Protruding ear	4	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		43
HP:0000598	HP:0100830	Round ear	4	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		43
HP:0000598	HP:0000400	Macrotia	4	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000598	HP:0000403	Recurrent otitis media	4	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000598	HP:0000400	Macrotia	4	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		6
HP:0000598	HP:0000357	Abnormal location of ears	4	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000598	HP:0000400	Macrotia	4	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0000598	HP:0000357	Abnormal location of ears	4	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000598	HP:0000357	Abnormal location of ears	4	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0000598	HP:0000357	Abnormal location of ears	4	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000598	HP:0000405	Conductive hearing impairment	4	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0000598	HP:0000405	Conductive hearing impairment	4	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0000598	HP:0000400	Macrotia	4	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000598	HP:0000400	Macrotia	4	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	4	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000400	Macrotia	4	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0000598	HP:0000405	Conductive hearing impairment	4	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0000598	HP:0000403	Recurrent otitis media	4	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		140
HP:0000598	HP:0000405	Conductive hearing impairment	4	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		140
HP:0000598	HP:0008551	Microtia	4	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.		140
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional		140
HP:0000598	HP:0008572	External ear malformation	4	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional		140
HP:0000598	HP:0000389	Chronic otitis media	4	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent		140
HP:0000598	HP:0000405	Conductive hearing impairment	4	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		140
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		140
HP:0000598	HP:0000411	Protruding ear	4	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare		140
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0000598	HP:0000403	Recurrent otitis media	4	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0000598	HP:0000389	Chronic otitis media	4	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0000598	HP:0002321	Vertigo	4	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	.		21
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		230
HP:0000598	HP:0000357	Abnormal location of ears	4	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	HP:0040284 - Very rare		54
HP:0000598	HP:0000411	Protruding ear	4	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		54
HP:0000598	HP:0100830	Round ear	4	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		54
HP:0000598	HP:0000357	Abnormal location of ears	4	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040284 - Very rare		92
HP:0000598	HP:0000403	Recurrent otitis media	4	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0000598	HP:0000400	Macrotia	4	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	4	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79	.	HP:0011463 - Childhood onset	32
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79	.		32
HP:0000598	HP:0001730	Progressive hearing impairment	4	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79			32
HP:0000598	HP:0000357	Abnormal location of ears	4	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000411	Protruding ear	4	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		27
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0000598	HP:0000400	Macrotia	4	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0000598	HP:0002321	Vertigo	4	TRDN CL E G H	10345	12261	ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia	HP:0040282 - Frequent		145
HP:0000598	HP:0000357	Abnormal location of ears	4	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0000598	HP:0000357	Abnormal location of ears	4	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0000598	HP:0000400	Macrotia	4	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0000598	HP:0011039	Abnormal helix morphology	4	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28			154
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	4	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28	.		154
HP:0000598	HP:0012714	Severe hearing impairment	4	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28			154
HP:0000598	HP:0000357	Abnormal location of ears	4	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0000598	HP:0000357	Abnormal location of ears	4	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000598	HP:0000357	Abnormal location of ears	4	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0000598	HP:0000411	Protruding ear	4	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0000598	HP:0000400	Macrotia	4	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0011975	Aminoglycoside-induced hearing loss	4	TRMU CL E G H	55687	25481	OMIM:580000	Deafness, aminoglycoside-induced	.		101
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNF CL E G H	4558	7481	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNH CL E G H	4564	7487	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNK CL E G H	4566	7489	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNP CL E G H	4571	7494	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0011975	Aminoglycoside-induced hearing loss	4	TRNS1 CL E G H	4574	7497	OMIM:580000	Deafness, aminoglycoside-induced	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000598	HP:0001756	Vestibular hypofunction	4	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0001730	Progressive hearing impairment	4	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0002321	Vertigo	4	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent		124
HP:0000598	HP:0000400	Macrotia	4	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent		171
HP:0000598	HP:0000411	Protruding ear	4	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent		171
HP:0000598	HP:0000357	Abnormal location of ears	4	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000598	HP:0000405	Conductive hearing impairment	4	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional		171
HP:0000598	HP:0000411	Protruding ear	4	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		171
HP:0000598	HP:0000400	Macrotia	4	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0000598	HP:0000411	Protruding ear	4	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0000598	HP:0000411	Protruding ear	4	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.		171
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040282 - Frequent		151
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0000598	HP:0000357	Abnormal location of ears	4	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TRRAP CL E G H	8295	12347	OMIM:618778	DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75			2
HP:0000598	HP:0000357	Abnormal location of ears	4	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0000598	HP:0000405	Conductive hearing impairment	4	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital	.		111
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital			111
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TSPEAR CL E G H	54084	1268	OMIM:614861	Deafness, autosomal recessive 98	.		39
HP:0000598	HP:0000357	Abnormal location of ears	4	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0008551	Microtia	4	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000598	HP:0000405	Conductive hearing impairment	4	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	.		1
HP:0000598	HP:0008551	Microtia	4	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	.		1
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis			1
HP:0000598	HP:0000389	Chronic otitis media	4	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000403	Recurrent otitis media	4	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000598	HP:0000357	Abnormal location of ears	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000598	HP:0000411	Protruding ear	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000598	HP:0000357	Abnormal location of ears	4	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000598	HP:0000357	Abnormal location of ears	4	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0000598	HP:0000405	Conductive hearing impairment	4	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0000598	HP:0000357	Abnormal location of ears	4	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0000598	HP:0000400	Macrotia	4	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0000598	HP:0000400	Macrotia	4	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0000598	HP:0000411	Protruding ear	4	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		7128
HP:0000598	HP:0000405	Conductive hearing impairment	4	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0000598	HP:0000357	Abnormal location of ears	4	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0000598	HP:0008572	External ear malformation	4	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0000598	HP:0000357	Abnormal location of ears	4	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0000598	HP:0000357	Abnormal location of ears	4	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000598	HP:0000411	Protruding ear	4	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000598	HP:0000411	Protruding ear	4	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		14
HP:0000598	HP:0000411	Protruding ear	4	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		61
HP:0000598	HP:0000405	Conductive hearing impairment	4	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0000598	HP:0000357	Abnormal location of ears	4	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000357	Abnormal location of ears	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000405	Conductive hearing impairment	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0008551	Microtia	4	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.		18
HP:0000598	HP:0008551	Microtia	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		18
HP:0000598	HP:0008572	External ear malformation	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		18
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		18
HP:0000598	HP:0011039	Abnormal helix morphology	4	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:0011039	Abnormal helix morphology	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0011384	Abnormality of the internal auditory canal	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0000357	Abnormal location of ears	4	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000598	HP:0000378	Cupped ear	4	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0000598	HP:0008551	Microtia	4	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000598	HP:0011039	Abnormal helix morphology	4	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0008551	Microtia	4	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent		7
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0000598	HP:0000357	Abnormal location of ears	4	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0008551	Microtia	4	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0000357	Abnormal location of ears	4	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0000402	Stenosis of the external auditory canal	4	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0000413	Atresia of the external auditory canal	4	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0400002	Extra concha fold	4	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0008551	Microtia	4	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0001730	Progressive hearing impairment	4	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	HP:0040283 - Occasional		113
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0000598	HP:0000357	Abnormal location of ears	4	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0000598	HP:0000357	Abnormal location of ears	4	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0000598	HP:0000405	Conductive hearing impairment	4	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0000598	HP:0000411	Protruding ear	4	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		85
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		138
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		138
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		146
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0000598	HP:0200047	Chondritis of pinna	4	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0000598	HP:0000357	Abnormal location of ears	4	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000598	HP:0000411	Protruding ear	4	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000598	HP:0002321	Vertigo	4	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000598	HP:0000403	Recurrent otitis media	4	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040283 - Occasional
HP:0000598	HP:0000405	Conductive hearing impairment	4	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040283 - Occasional
HP:0000598	HP:0000400	Macrotia	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0000598	HP:0008572	External ear malformation	4	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0000598	HP:0000357	Abnormal location of ears	4	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000598	HP:0000357	Abnormal location of ears	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000405	Conductive hearing impairment	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008551	Microtia	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent		25
HP:0000598	HP:0000357	Abnormal location of ears	4	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0000598	HP:0000357	Abnormal location of ears	4	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000405	Conductive hearing impairment	4	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0011039	Abnormal helix morphology	4	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000598	HP:0000357	Abnormal location of ears	4	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000598	HP:0000357	Abnormal location of ears	4	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0000598	HP:0000403	Recurrent otitis media	4	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13			30
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040284 - Very rare		116
HP:0000598	HP:0000357	Abnormal location of ears	4	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000598	HP:0000357	Abnormal location of ears	4	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000598	HP:0000357	Abnormal location of ears	4	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0000598	HP:0000411	Protruding ear	4	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		33
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0000598	HP:0000403	Recurrent otitis media	4	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	USH1C CL E G H	10083	12597	OMIM:602092	DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A			173
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000598	HP:0001756	Vestibular hypofunction	4	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.		173
HP:0000598	HP:0001756	Vestibular hypofunction	4	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC			173
HP:0000598	HP:0001756	Vestibular hypofunction	4	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC	.		173
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC	.		173
HP:0000598	HP:0000375	Abnormal cochlea morphology	4	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000598	HP:0001756	Vestibular hypofunction	4	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG	.		78
HP:0000598	HP:0000405	Conductive hearing impairment	4	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA			777
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA	.		777
HP:0000598	HP:0000357	Abnormal location of ears	4	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0000598	HP:0000357	Abnormal location of ears	4	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000598	HP:0000357	Abnormal location of ears	4	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000598	HP:0000357	Abnormal location of ears	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0000598	HP:0000357	Abnormal location of ears	4	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000598	HP:0000357	Abnormal location of ears	4	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0000598	HP:0000357	Abnormal location of ears	4	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000598	HP:0000405	Conductive hearing impairment	4	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		248
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		63
HP:0000598	HP:0000405	Conductive hearing impairment	4	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		490
HP:0000598	HP:0002321	Vertigo	4	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000598	HP:0008629	Pulsatile tinnitus	4	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		490
HP:0000598	HP:0000405	Conductive hearing impairment	4	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional		490
HP:0000598	HP:0002321	Vertigo	4	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0000598	HP:0008629	Pulsatile tinnitus	4	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		490
HP:0000598	HP:0002321	Vertigo	4	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0000598	HP:0030393	Endolymphatic sac tumor	4	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.		490
HP:0000598	HP:0002321	Vertigo	4	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.		490
HP:0000598	HP:0000357	Abnormal location of ears	4	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		1
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional		546
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	VPS33B CL E G H	26276	12712	OMIM:620009				63
HP:0000598	HP:0000357	Abnormal location of ears	4	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0000598	HP:0000357	Abnormal location of ears	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0000389	Chronic otitis media	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000400	Macrotia	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000411	Protruding ear	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000598	HP:0011039	Abnormal helix morphology	4	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0002321	Vertigo	4	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	4	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0012714	Severe hearing impairment	4	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0000357	Abnormal location of ears	4	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	HP:0040283 - Occasional		20
HP:0000598	HP:0000357	Abnormal location of ears	4	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000598	HP:0000357	Abnormal location of ears	4	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000598	HP:0000357	Abnormal location of ears	4	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000598	HP:0000389	Chronic otitis media	4	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent		65
HP:0000598	HP:0000403	Recurrent otitis media	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0000598	HP:0000357	Abnormal location of ears	4	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000598	HP:0000357	Abnormal location of ears	4	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0000598	HP:0000357	Abnormal location of ears	4	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0000598	HP:0000357	Abnormal location of ears	4	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000598	HP:0000357	Abnormal location of ears	4	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		10
HP:0000598	HP:0000411	Protruding ear	4	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional		95
HP:0000598	HP:0000403	Recurrent otitis media	4	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0000598	HP:0000403	Recurrent otitis media	4	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0000598	HP:0000357	Abnormal location of ears	4	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000598	HP:0020206	Simple ear	4	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000598	HP:0000357	Abnormal location of ears	4	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000598	HP:0000400	Macrotia	4	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	4	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000598	HP:0000400	Macrotia	4	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		14
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	4	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		14
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0000598	HP:0000357	Abnormal location of ears	4	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000598	HP:0000400	Macrotia	4	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6			389
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	4	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6	.		389
HP:0000598	HP:0001730	Progressive hearing impairment	4	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6			389
HP:0000598	HP:0008573	Low-frequency sensorineural hearing impairment	4	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6	.		389
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040281 - Very frequent		389
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	4	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040282 - Frequent		389
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000598	HP:0001730	Progressive hearing impairment	4	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	WHRN CL E G H	25861	16361	OMIM:607084	Deafness, autosomal recessive 31	.		155
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000598	HP:0000389	Chronic otitis media	4	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent		6
HP:0000598	HP:0000378	Cupped ear	4	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		4
HP:0000598	HP:0000357	Abnormal location of ears	4	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0000598	HP:0008551	Microtia	4	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent		12
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0000598	HP:0000357	Abnormal location of ears	4	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0000598	HP:0000411	Protruding ear	4	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040283 - Occasional		4
HP:0000598	HP:0000357	Abnormal location of ears	4	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000598	HP:0000357	Abnormal location of ears	4	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0000598	HP:0000411	Protruding ear	4	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional		13
HP:0000598	HP:0000357	Abnormal location of ears	4	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0000598	HP:0400004	Long ear	4	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.		13
HP:0000598	HP:0000357	Abnormal location of ears	4	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		86
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	HP:0040283 - Occasional		109
HP:0000598	HP:0008572	External ear malformation	4	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	HP:0040283 - Occasional		9
HP:0000598	HP:0000357	Abnormal location of ears	4	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0000598	HP:0000357	Abnormal location of ears	4	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000598	HP:0009738	Abnormal antihelix morphology	4	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0011039	Abnormal helix morphology	4	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000598	HP:0000357	Abnormal location of ears	4	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040281 - Very frequent		2
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	4	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000598	HP:0012715	Profound hearing impairment	4	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000598	HP:0000400	Macrotia	4	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0000598	HP:0000357	Abnormal location of ears	4	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0000598	HP:0000357	Abnormal location of ears	4	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0000598	HP:0000357	Abnormal location of ears	4	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0000598	HP:0020206	Simple ear	4	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0000598	HP:0002321	Vertigo	4	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		1
HP:0000598	HP:0000357	Abnormal location of ears	4	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0000598	HP:0000357	Abnormal location of ears	4	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0000598	HP:0000400	Macrotia	4	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0000598	HP:0000405	Conductive hearing impairment	4	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0000598	HP:0000357	Abnormal location of ears	4	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000598	HP:0000400	Macrotia	4	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000598	HP:0000357	Abnormal location of ears	4	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0000598	HP:0000357	Abnormal location of ears	4	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2			9
HP:0000598	HP:0000357	Abnormal location of ears	4	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000598	HP:0000357	Abnormal location of ears	4	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000598	HP:0000357	Abnormal location of ears	4	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0000598	HP:0000411	Protruding ear	4	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0000411	Protruding ear	4	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type	.		10
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000598	HP:0000378	Cupped ear	4	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.		362
HP:0000598	HP:0000403	Recurrent otitis media	4	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000598	HP:0000357	Abnormal location of ears	4	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000598	HP:0000403	Recurrent otitis media	4	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent		362
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare		362
HP:0000598	HP:0000357	Abnormal location of ears	4	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000598	HP:0000403	Recurrent otitis media	4	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent		362
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare		362
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional		5
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000598	HP:0000400	Macrotia	4	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000598	HP:0000357	Abnormal location of ears	4	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0000598	HP:0000357	Abnormal location of ears	4	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000598	HP:0011039	Abnormal helix morphology	4	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000598	HP:0000405	Conductive hearing impairment	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		83
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0001757	High-frequency sensorineural hearing impairment	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0000598	HP:0008573	Low-frequency sensorineural hearing impairment	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0000598	HP:0011039	Abnormal helix morphology	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000598	HP:0000357	Abnormal location of ears	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0000598	HP:0000357	Abnormal location of ears	4	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0000598	HP:0000357	Abnormal location of ears	4	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0008551	Microtia	4	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0000403	Recurrent otitis media	4	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.		20
HP:0000598	HP:0000389	Chronic otitis media	4	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		20
HP:0000598	HP:0000403	Recurrent otitis media	4	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent		20
HP:0000598	HP:0000405	Conductive hearing impairment	4	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0000598	HP:0011039	Abnormal helix morphology	4	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0000598	HP:0000357	Abnormal location of ears	4	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0000598	HP:0000357	Abnormal location of ears	4	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000598	HP:0000378	Cupped ear	4	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000598	HP:0000403	Recurrent otitis media	4	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	.		1
HP:0000598	HP:0000363	Abnormal earlobe morphology	4	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000598	HP:0000411	Protruding ear	4	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000598	HP:0000405	Conductive hearing impairment	4	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000598	HP:0000357	Abnormal location of ears	4	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000598	HP:0000357	Abnormal location of ears	4	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0000378	Cupped ear	4	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0000411	Protruding ear	4	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	4	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0008551	Microtia	4	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	4	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0011039	Abnormal helix morphology	4	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0000405	Conductive hearing impairment	4	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		397
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		397
HP:0000598	HP:0000405	Conductive hearing impairment	4	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0000598	HP:0000400	Macrotia	4	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0000598	HP:0000357	Abnormal location of ears	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0000400	Macrotia	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0000405	Conductive hearing impairment	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0000407	Sensorineural hearing impairment	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0000400	Macrotia	4	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0000598	HP:0000400	Macrotia	4	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0008572	External ear malformation	4	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0004461	Congenital earlobe sinuses	5	CL E G H
HP:0000598	HP:0009910	Aplasia of the middle ear ossicles	5	CL E G H
HP:0000598	HP:0011233	Antihelical shelf	5	CL E G H
HP:0000598	HP:0011248	Everted antitragus	5	CL E G H
HP:0000598	HP:0011249	Absent antitragus	5	CL E G H
HP:0000598	HP:0011250	Bifid antitragus	5	CL E G H
HP:0000598	HP:0011253	Type I cryptotia	5	CL E G H
HP:0000598	HP:0011254	Type II cryptotia	5	CL E G H
HP:0000598	HP:0011262	Crimped helix	5	CL E G H
HP:0000598	HP:0011263	Forward facing earlobe	5	CL E G H
HP:0000598	HP:0011264	Discontinuous ascending root of helix	5	CL E G H
HP:0000598	HP:0011269	Bifid tragus	5	CL E G H
HP:0000598	HP:0011377	Aplasia of the vestibule	5	CL E G H
HP:0000598	HP:0011378	Hypoplasia of the vestibule of the inner ear	5	CL E G H
HP:0000598	HP:0011385	Absent internal auditory canal	5	CL E G H
HP:0000598	HP:0011392	Abnormality of the vestibular nerve	5	CL E G H
HP:0000598	HP:0011396	Abnormality of the cochlear nerve	5	CL E G H
HP:0000598	HP:0011453	Abnormality of the incus	5	CL E G H
HP:0000598	HP:0012716	Moderate conductive hearing impairment	5	CL E G H
HP:0000598	HP:0030788	Impacted cerumen	5	CL E G H
HP:0000598	HP:0030789	Excessive cerumen	5	CL E G H
HP:0000598	HP:0030790	Abnormal cerumen color	5	CL E G H
HP:0000598	HP:0030999	Abnormal vestibular saccule morphology	5	CL E G H
HP:0000598	HP:0031510	Linear earlobe crease	5	CL E G H
HP:0000598	HP:0031511	Diagonal earlobe crease	5	CL E G H
HP:0000598	HP:0032100	Abnormal doll's eye reflex	5	CL E G H
HP:0000598	HP:0040101	Cutaneous atresia of the external auditory canal	5	CL E G H
HP:0000598	HP:0040102	Osseous atresia of the external auditory canal	5	CL E G H
HP:0000598	HP:0040103	Cutaneous stenosis of the external auditory canal	5	CL E G H
HP:0000598	HP:0040104	Osseous stenosis of the external auditory canal	5	CL E G H
HP:0000598	HP:0040120	Abnormality of the reflex of the tensor tympani muscle	5	CL E G H
HP:0000598	HP:0100810	Pointed helix	5	CL E G H
HP:0000598	HP:0400003	Focal absence of the external ear	5	CL E G H
HP:0000598	HP:0008589	Hypoplastic helices	5	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0000598	HP:0009739	Hypoplasia of the antihelix	5	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0000598	HP:0000410	Mixed hearing impairment	5	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0000598	HP:0005103	Calcification of the auricular cartilage	5	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare		415
HP:0000598	HP:0008628	Abnormality of the stapes	5	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000598	HP:0008551	Microtia	5	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent		34
HP:0000598	HP:0000369	Low-set ears	5	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0000598	HP:0000369	Low-set ears	5	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0000598	HP:0009904	Prominent ear helix	5	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000598	HP:0000369	Low-set ears	5	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0000598	HP:0000369	Low-set ears	5	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent		120
HP:0000598	HP:0000369	Low-set ears	5	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0000598	HP:0000369	Low-set ears	5	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.		16
HP:0000598	HP:0000369	Low-set ears	5	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		96
HP:0000598	HP:0000369	Low-set ears	5	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		96
HP:0000598	HP:0000369	Low-set ears	5	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0000598	HP:0008544	Abnormally folded helix	5	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20	.		123
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20	.		123
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0000598	HP:0000369	Low-set ears	5	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0000598	HP:0000369	Low-set ears	5	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000598	HP:0008551	Microtia	5	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus	.		8
HP:0000598	HP:0000369	Low-set ears	5	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000391	Thickened helices	5	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0000598	HP:0000369	Low-set ears	5	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0000598	HP:0000369	Low-set ears	5	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44	.		2
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44			2
HP:0000598	HP:0000369	Low-set ears	5	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.		5
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC	.		530
HP:0000598	HP:0000369	Low-set ears	5	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0000598	HP:0008551	Microtia	5	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000598	HP:0000369	Low-set ears	5	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000598	HP:0000369	Low-set ears	5	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0000598	HP:0000369	Low-set ears	5	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent		118
HP:0000598	HP:0009904	Prominent ear helix	5	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent		59
HP:0000598	HP:0000369	Low-set ears	5	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000598	HP:0000391	Thickened helices	5	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0000598	HP:0000358	Posteriorly rotated ears	5	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000598	HP:0000369	Low-set ears	5	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000598	HP:0000410	Mixed hearing impairment	5	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0008551	Microtia	5	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent		76
HP:0000598	HP:0008544	Abnormally folded helix	5	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000598	HP:0008589	Hypoplastic helices	5	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000598	HP:0000369	Low-set ears	5	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0000598	HP:0000369	Low-set ears	5	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000598	HP:0009909	Uplifted earlobe	5	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0000598	HP:0000369	Low-set ears	5	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.		36
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000598	HP:0009909	Uplifted earlobe	5	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.		36
HP:0000598	HP:0000369	Low-set ears	5	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0000369	Low-set ears	5	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0000598	HP:0000358	Posteriorly rotated ears	5	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000598	HP:0000369	Low-set ears	5	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000598	HP:0000369	Low-set ears	5	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0000598	HP:0000369	Low-set ears	5	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0000598	HP:0011386	Narrow internal auditory canal	5	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0000598	HP:0000369	Low-set ears	5	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0000598	HP:0000369	Low-set ears	5	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.		89
HP:0000598	HP:0000369	Low-set ears	5	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0000598	HP:0000369	Low-set ears	5	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000598	HP:0000369	Low-set ears	5	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.		96
HP:0000598	HP:0000369	Low-set ears	5	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000598	HP:0000369	Low-set ears	5	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional		66
HP:0000598	HP:0000369	Low-set ears	5	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0000598	HP:0000369	Low-set ears	5	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000598	HP:0000369	Low-set ears	5	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0000598	HP:0002265	Large fleshy ears	5	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0000598	HP:0000369	Low-set ears	5	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000598	HP:0000369	Low-set ears	5	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000598	HP:0002265	Large fleshy ears	5	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	5	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0000598	HP:0000369	Low-set ears	5	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0000598	HP:0000369	Low-set ears	5	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0000598	HP:0000369	Low-set ears	5	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0000369	Low-set ears	5	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000598	HP:0008591	Congenital conductive hearing impairment	5	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0000598	HP:0000369	Low-set ears	5	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000598	HP:0000369	Low-set ears	5	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent		132
HP:0000598	HP:0000358	Posteriorly rotated ears	5	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0000598	HP:0000369	Low-set ears	5	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0000598	HP:0008544	Abnormally folded helix	5	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000598	HP:0008551	Microtia	5	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0000598	HP:0000358	Posteriorly rotated ears	5	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0000598	HP:0000369	Low-set ears	5	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0000598	HP:0000410	Mixed hearing impairment	5	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	.		2
HP:0000598	HP:0008544	Abnormally folded helix	5	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0000410	Mixed hearing impairment	5	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.		164
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0000598	HP:0008513	Bilateral conductive hearing impairment	5	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0000598	HP:0000369	Low-set ears	5	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000598	HP:0000369	Low-set ears	5	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent		8
HP:0000598	HP:0000369	Low-set ears	5	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0000598	HP:0000358	Posteriorly rotated ears	5	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000598	HP:0000369	Low-set ears	5	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000598	HP:0000358	Posteriorly rotated ears	5	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000598	HP:0000369	Low-set ears	5	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000598	HP:0000369	Low-set ears	5	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000598	HP:0000395	Prominent antihelix	5	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0000598	HP:0000369	Low-set ears	5	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0000598	HP:0000369	Low-set ears	5	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0000369	Low-set ears	5	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0000369	Low-set ears	5	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		62
HP:0000598	HP:0000369	Low-set ears	5	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000369	Low-set ears	5	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0000598	HP:0000369	Low-set ears	5	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0000598	HP:0000369	Low-set ears	5	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		253
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		253
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000598	HP:0000410	Mixed hearing impairment	5	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0000598	HP:0000369	Low-set ears	5	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0008544	Abnormally folded helix	5	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.		166
HP:0000598	HP:0001757	High-frequency sensorineural hearing impairment	5	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional		78
HP:0000598	HP:0000369	Low-set ears	5	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0010722	Asymmetry of the ears	5	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0000598	HP:0000369	Low-set ears	5	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0000598	HP:0000369	Low-set ears	5	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0000598	HP:0000369	Low-set ears	5	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0000598	HP:0008544	Abnormally folded helix	5	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000598	HP:0000369	Low-set ears	5	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000598	HP:0000369	Low-set ears	5	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent		4
HP:0000598	HP:0000369	Low-set ears	5	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.		4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0000598	HP:0000369	Low-set ears	5	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000598	HP:0000369	Low-set ears	5	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12	.		5
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12			5
HP:0000598	HP:0000369	Low-set ears	5	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0000598	HP:0000369	Low-set ears	5	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0000598	HP:0000369	Low-set ears	5	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0000598	HP:0000369	Low-set ears	5	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0000598	HP:0000369	Low-set ears	5	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0000598	HP:0000369	Low-set ears	5	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0000598	HP:0000369	Low-set ears	5	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	5	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040281 - Very frequent		5
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant			5
HP:0000598	HP:0000369	Low-set ears	5	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		5
HP:0000598	HP:0002265	Large fleshy ears	5	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		5
HP:0000598	HP:0000369	Low-set ears	5	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0000598	HP:0000369	Low-set ears	5	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0000598	HP:0000369	Low-set ears	5	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0000598	HP:0000369	Low-set ears	5	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0000598	HP:0008551	Microtia	5	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000598	HP:0000369	Low-set ears	5	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000598	HP:0008551	Microtia	5	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000598	HP:0000369	Low-set ears	5	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0000598	HP:0000369	Low-set ears	5	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0000598	HP:0000358	Posteriorly rotated ears	5	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		43
HP:0000598	HP:0000369	Low-set ears	5	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		43
HP:0000598	HP:0000358	Posteriorly rotated ears	5	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		38
HP:0000598	HP:0000369	Low-set ears	5	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		38
HP:0000598	HP:0000410	Mixed hearing impairment	5	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0000598	HP:0000358	Posteriorly rotated ears	5	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0000598	HP:0000369	Low-set ears	5	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0000598	HP:0000369	Low-set ears	5	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000598	HP:0008551	Microtia	5	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0000598	HP:0008593	Prominent antitragus	5	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional		5
HP:0000598	HP:0000358	Posteriorly rotated ears	5	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0000369	Low-set ears	5	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0008551	Microtia	5	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000598	HP:0008569	Microtia, second degree	5	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0000598	HP:0000358	Posteriorly rotated ears	5	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000598	HP:0000369	Low-set ears	5	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000598	HP:0008551	Microtia	5	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000598	HP:0008569	Microtia, second degree	5	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000598	HP:0000369	Low-set ears	5	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000598	HP:0000369	Low-set ears	5	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000598	HP:0000358	Posteriorly rotated ears	5	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000369	Low-set ears	5	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000369	Low-set ears	5	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		28
HP:0000598	HP:0000358	Posteriorly rotated ears	5	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0000598	HP:0000369	Low-set ears	5	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0000598	HP:0000369	Low-set ears	5	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		34
HP:0000598	HP:0000358	Posteriorly rotated ears	5	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0000598	HP:0000369	Low-set ears	5	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0000598	HP:0000369	Low-set ears	5	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0000598	HP:0000369	Low-set ears	5	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0000598	HP:0000369	Low-set ears	5	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0000598	HP:0000369	Low-set ears	5	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0000598	HP:0000369	Low-set ears	5	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0000598	HP:0000369	Low-set ears	5	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0000598	HP:0000369	Low-set ears	5	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0000598	HP:0000369	Low-set ears	5	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0000598	HP:0000369	Low-set ears	5	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0000598	HP:0000369	Low-set ears	5	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.		11
HP:0000598	HP:0008544	Abnormally folded helix	5	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.		3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000598	HP:0000369	Low-set ears	5	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000598	HP:0000369	Low-set ears	5	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0000598	HP:0008544	Abnormally folded helix	5	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0000598	HP:0040080	Anteverted ears	5	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0000598	HP:0010722	Asymmetry of the ears	5	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0000598	HP:0008544	Abnormally folded helix	5	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000369	Low-set ears	5	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000395	Prominent antihelix	5	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0008544	Abnormally folded helix	5	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0009748	Large earlobe	5	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000598	HP:0000369	Low-set ears	5	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000598	HP:0000391	Thickened helices	5	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional		13
HP:0000598	HP:0008551	Microtia	5	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional		13
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0000598	HP:0000369	Low-set ears	5	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000598	HP:0000369	Low-set ears	5	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000598	HP:0009909	Uplifted earlobe	5	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6	.		38
HP:0000598	HP:0000369	Low-set ears	5	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0000598	HP:0000369	Low-set ears	5	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0000598	HP:0008551	Microtia	5	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0008607	Progressive conductive hearing impairment	5	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0008628	Abnormality of the stapes	5	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000598	HP:0000369	Low-set ears	5	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000598	HP:0000391	Thickened helices	5	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0000598	HP:0000369	Low-set ears	5	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000598	HP:0009748	Large earlobe	5	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000598	HP:0009908	Anterior creases of earlobe	5	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0000369	Low-set ears	5	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000598	HP:0000369	Low-set ears	5	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0000598	HP:0000369	Low-set ears	5	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000598	HP:0000391	Thickened helices	5	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000598	HP:0009748	Large earlobe	5	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0000598	HP:0000369	Low-set ears	5	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	5	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		276
HP:0000598	HP:0000369	Low-set ears	5	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional		8
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0000369	Low-set ears	5	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000598	HP:0000369	Low-set ears	5	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0000369	Low-set ears	5	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.		7
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent		53
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0000598	HP:0000369	Low-set ears	5	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0000598	HP:0000369	Low-set ears	5	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0000598	HP:0000369	Low-set ears	5	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000598	HP:0000369	Low-set ears	5	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.		13
HP:0000598	HP:0000369	Low-set ears	5	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040282 - Frequent		13
HP:0000598	HP:0000358	Posteriorly rotated ears	5	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0000598	HP:0000369	Low-set ears	5	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0000598	HP:0000358	Posteriorly rotated ears	5	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0000598	HP:0000369	Low-set ears	5	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		56
HP:0000598	HP:0000369	Low-set ears	5	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0000598	HP:0040080	Anteverted ears	5	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.		32
HP:0000598	HP:0010532	Paroxysmal vertigo	5	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0000598	HP:0000369	Low-set ears	5	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.		1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000598	HP:0000369	Low-set ears	5	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0000598	HP:0000369	Low-set ears	5	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0000369	Low-set ears	5	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000598	HP:0008551	Microtia	5	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0040113	Old-aged sensorineural hearing impairment	5	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040283 - Occasional		5
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility	.		12
HP:0000598	HP:0000369	Low-set ears	5	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0000369	Low-set ears	5	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0000391	Thickened helices	5	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		317
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0000598	HP:0000369	Low-set ears	5	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0000598	HP:0000369	Low-set ears	5	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000369	Low-set ears	5	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		247
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000598	HP:0000369	Low-set ears	5	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0000598	HP:0000369	Low-set ears	5	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0000598	HP:0000369	Low-set ears	5	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0000598	HP:0000369	Low-set ears	5	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		147
HP:0000598	HP:0000369	Low-set ears	5	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.		3
HP:0000598	HP:0000369	Low-set ears	5	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.		3
HP:0000598	HP:0000369	Low-set ears	5	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	HP:0040284 - Very rare		7
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0000598	HP:0000369	Low-set ears	5	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000598	HP:0000369	Low-set ears	5	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	5	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent		83
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000598	HP:0000369	Low-set ears	5	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0000598	HP:0000369	Low-set ears	5	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0000598	HP:0000369	Low-set ears	5	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0009909	Uplifted earlobe	5	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		9
HP:0000598	HP:0000369	Low-set ears	5	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		9
HP:0000598	HP:0008551	Microtia	5	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0000598	HP:0009892	Anotia	5	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0000598	HP:0011267	Microtia, third degree	5	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0000598	HP:0000369	Low-set ears	5	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000598	HP:0008551	Microtia	5	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		31
HP:0000598	HP:0000369	Low-set ears	5	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		31
HP:0000598	HP:0008551	Microtia	5	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0000598	HP:0009892	Anotia	5	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0000598	HP:0011267	Microtia, third degree	5	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0000598	HP:0000369	Low-set ears	5	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0000598	HP:0008551	Microtia	5	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000598	HP:0000369	Low-set ears	5	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000369	Low-set ears	5	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000598	HP:0000410	Mixed hearing impairment	5	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0009748	Large earlobe	5	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0009907	Attached earlobe	5	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.		2
HP:0000598	HP:0000369	Low-set ears	5	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.		2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000598	HP:0000369	Low-set ears	5	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000598	HP:0000391	Thickened helices	5	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12	.		636
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12			636
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0000598	HP:0000369	Low-set ears	5	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0000598	HP:0000369	Low-set ears	5	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0000598	HP:0008544	Abnormally folded helix	5	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000598	HP:0000410	Mixed hearing impairment	5	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0000598	HP:0008523	Posterior helix pit	5	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0000598	HP:0000369	Low-set ears	5	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent		114
HP:0000598	HP:0000369	Low-set ears	5	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.		114
HP:0000598	HP:0000369	Low-set ears	5	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		114
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0000369	Low-set ears	5	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0008551	Microtia	5	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0000598	HP:0009892	Anotia	5	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0000598	HP:0011267	Microtia, third degree	5	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0000598	HP:0000369	Low-set ears	5	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0000598	HP:0008551	Microtia	5	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0000598	HP:0000369	Low-set ears	5	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.		27
HP:0000598	HP:0008551	Microtia	5	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0000598	HP:0000369	Low-set ears	5	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.		161
HP:0000598	HP:0000369	Low-set ears	5	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000369	Low-set ears	5	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000598	HP:0000369	Low-set ears	5	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0001757	High-frequency sensorineural hearing impairment	5	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0000598	HP:0000369	Low-set ears	5	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000598	HP:0000369	Low-set ears	5	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0000598	HP:0000369	Low-set ears	5	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0000598	HP:0000369	Low-set ears	5	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		90
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000598	HP:0000369	Low-set ears	5	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000598	HP:0000369	Low-set ears	5	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0000598	HP:0000369	Low-set ears	5	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0000598	HP:0000369	Low-set ears	5	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000369	Low-set ears	5	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000369	Low-set ears	5	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0000598	HP:0000369	Low-set ears	5	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		11
HP:0000598	HP:0000369	Low-set ears	5	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0000598	HP:0000369	Low-set ears	5	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.		14
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0000369	Low-set ears	5	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0008551	Microtia	5	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0000369	Low-set ears	5	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0000369	Low-set ears	5	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0000410	Mixed hearing impairment	5	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0000598	HP:0008544	Abnormally folded helix	5	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0008551	Microtia	5	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		515
HP:0000598	HP:0008551	Microtia	5	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		515
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		515
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000598	HP:0000369	Low-set ears	5	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000598	HP:0011386	Narrow internal auditory canal	5	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000598	HP:0000369	Low-set ears	5	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		74
HP:0000598	HP:0000369	Low-set ears	5	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		88
HP:0000598	HP:0000369	Low-set ears	5	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0000598	HP:0000369	Low-set ears	5	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0000598	HP:0000369	Low-set ears	5	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		68
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0000598	HP:0000369	Low-set ears	5	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000598	HP:0000369	Low-set ears	5	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000598	HP:0000369	Low-set ears	5	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000598	HP:0008551	Microtia	5	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0000598	HP:0008593	Prominent antitragus	5	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional		165
HP:0000598	HP:0008551	Microtia	5	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0000598	HP:0000369	Low-set ears	5	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	5	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent		16
HP:0000598	HP:0000369	Low-set ears	5	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000598	HP:0008544	Abnormally folded helix	5	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	5	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48	.	HP:0003577 - Congenital onset	15
HP:0000598	HP:0000369	Low-set ears	5	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0000369	Low-set ears	5	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent		9
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent		27
HP:0000598	HP:0008544	Abnormally folded helix	5	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0000598	HP:0008568	Vestibular areflexia	5	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103	.		1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3	.		13
HP:0000598	HP:0000369	Low-set ears	5	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.		2
HP:0000598	HP:0008551	Microtia	5	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.		2
HP:0000598	HP:0000369	Low-set ears	5	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000369	Low-set ears	5	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0000598	HP:0000369	Low-set ears	5	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000598	HP:0000369	Low-set ears	5	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0000598	HP:0005102	Cochlear degeneration	5	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.		46
HP:0000598	HP:0008596	Postlingual sensorineural hearing impairment	5	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.		46
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9			46
HP:0000598	HP:0000358	Posteriorly rotated ears	5	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000598	HP:0000369	Low-set ears	5	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000598	HP:0008551	Microtia	5	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0000598	HP:0000358	Posteriorly rotated ears	5	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000598	HP:0000369	Low-set ears	5	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000598	HP:0008551	Microtia	5	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0000598	HP:0000358	Posteriorly rotated ears	5	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040282 - Frequent		79
HP:0000598	HP:0000369	Low-set ears	5	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040282 - Frequent		79
HP:0000598	HP:0000369	Low-set ears	5	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0000598	HP:0000369	Low-set ears	5	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		215
HP:0000598	HP:0000369	Low-set ears	5	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0000598	HP:0000369	Low-set ears	5	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0000598	HP:0000369	Low-set ears	5	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent		222
HP:0000598	HP:0000358	Posteriorly rotated ears	5	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional		222
HP:0000598	HP:0000410	Mixed hearing impairment	5	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.		222
HP:0000598	HP:0000369	Low-set ears	5	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.		6
HP:0000598	HP:0000369	Low-set ears	5	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0000598	HP:0008628	Abnormality of the stapes	5	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0000598	HP:0008628	Abnormality of the stapes	5	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0000598	HP:0012717	Severe conductive hearing impairment	5	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0000598	HP:0008628	Abnormality of the stapes	5	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0000598	HP:0000369	Low-set ears	5	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent		284
HP:0000598	HP:0000369	Low-set ears	5	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0000598	HP:0000358	Posteriorly rotated ears	5	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0000598	HP:0008544	Abnormally folded helix	5	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		749
HP:0000598	HP:0000358	Posteriorly rotated ears	5	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		193
HP:0000598	HP:0000369	Low-set ears	5	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		193
HP:0000598	HP:0008554	Cochlear malformation	5	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6	.		18
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0000369	Low-set ears	5	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0002265	Large fleshy ears	5	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0000369	Low-set ears	5	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0002265	Large fleshy ears	5	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		9
HP:0000598	HP:0000369	Low-set ears	5	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		6
HP:0000598	HP:0008544	Abnormally folded helix	5	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0000598	HP:0011265	Cleft earlobe	5	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000369	Low-set ears	5	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000369	Low-set ears	5	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000598	HP:0000369	Low-set ears	5	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000598	HP:0008551	Microtia	5	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0008528	Long hairs growing from helix of pinna	5	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional		72
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0000598	HP:0000369	Low-set ears	5	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0000598	HP:0008544	Abnormally folded helix	5	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0000598	HP:0000369	Low-set ears	5	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0008544	Abnormally folded helix	5	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0011243	Abnormality of inferior crus of antihelix	5	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0000369	Low-set ears	5	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000598	HP:0000369	Low-set ears	5	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent		291
HP:0000598	HP:0000369	Low-set ears	5	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0000598	HP:0000369	Low-set ears	5	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0000598	HP:0008551	Microtia	5	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000369	Low-set ears	5	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000598	HP:0000369	Low-set ears	5	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000598	HP:0000369	Low-set ears	5	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0000598	HP:0000369	Low-set ears	5	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		57
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000598	HP:0000369	Low-set ears	5	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0000598	HP:0008544	Abnormally folded helix	5	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0000598	HP:0000369	Low-set ears	5	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000369	Low-set ears	5	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0008551	Microtia	5	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000598	HP:0000369	Low-set ears	5	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000598	HP:0000369	Low-set ears	5	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000598	HP:0000358	Posteriorly rotated ears	5	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0000598	HP:0000369	Low-set ears	5	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0000598	HP:0000369	Low-set ears	5	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0000598	HP:0008598	Mild conductive hearing impairment	5	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000598	HP:0000369	Low-set ears	5	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.		1
HP:0000598	HP:0000369	Low-set ears	5	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000369	Low-set ears	5	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008544	Abnormally folded helix	5	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000598	HP:0008551	Microtia	5	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0008544	Abnormally folded helix	5	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2			2
HP:0000598	HP:0008551	Microtia	5	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.		2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		108
HP:0000598	HP:0000369	Low-set ears	5	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		108
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0000598	HP:0008551	Microtia	5	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent		27
HP:0000598	HP:0008551	Microtia	5	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0000598	HP:0000369	Low-set ears	5	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.		5
HP:0000598	HP:0000369	Low-set ears	5	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0000369	Low-set ears	5	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	5	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000598	HP:0008586	Hypoplasia of the cochlea	5	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.		13
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	5	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0000598	HP:0000369	Low-set ears	5	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000598	HP:0000369	Low-set ears	5	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000598	HP:0008544	Abnormally folded helix	5	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000598	HP:0008615	Adult onset sensorineural hearing impairment	5	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040282 - Frequent		57
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000598	HP:0000369	Low-set ears	5	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000598	HP:0000369	Low-set ears	5	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent		72
HP:0000598	HP:0009748	Large earlobe	5	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent		72
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000369	Low-set ears	5	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000369	Low-set ears	5	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000369	Low-set ears	5	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000598	HP:0000369	Low-set ears	5	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.		59
HP:0000598	HP:0008551	Microtia	5	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent		59
HP:0000598	HP:0000369	Low-set ears	5	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000598	HP:0000369	Low-set ears	5	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.		4
HP:0000598	HP:0040121	Abnormality of the acoustic reflex	5	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1			8
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent		164
HP:0000598	HP:0000369	Low-set ears	5	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent		164
HP:0000598	HP:0000369	Low-set ears	5	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0000598	HP:0000391	Thickened helices	5	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent		164
HP:0000598	HP:0008615	Adult onset sensorineural hearing impairment	5	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0000598	HP:0008551	Microtia	5	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0000369	Low-set ears	5	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0000369	Low-set ears	5	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0010532	Paroxysmal vertigo	5	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0000598	HP:0000369	Low-set ears	5	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare		25
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000598	HP:0010532	Paroxysmal vertigo	5	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		44
HP:0000598	HP:0000369	Low-set ears	5	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional		79
HP:0000598	HP:0000369	Low-set ears	5	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.		79
HP:0000598	HP:0000369	Low-set ears	5	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.		18
HP:0000598	HP:0009748	Large earlobe	5	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0000598	HP:0009904	Prominent ear helix	5	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		91
HP:0000598	HP:0000369	Low-set ears	5	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.		9
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000598	HP:0000369	Low-set ears	5	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000598	HP:0000369	Low-set ears	5	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000369	Low-set ears	5	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.		3
HP:0000598	HP:0000369	Low-set ears	5	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000598	HP:0009748	Large earlobe	5	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000598	HP:0000369	Low-set ears	5	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	.		38
HP:0000598	HP:0000369	Low-set ears	5	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	HP:0040283 - Occasional		108
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0000598	HP:0000369	Low-set ears	5	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		14
HP:0000598	HP:0000369	Low-set ears	5	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0000598	HP:0000410	Mixed hearing impairment	5	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000598	HP:0000358	Posteriorly rotated ears	5	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000369	Low-set ears	5	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000369	Low-set ears	5	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000598	HP:0000369	Low-set ears	5	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0000598	HP:0000391	Thickened helices	5	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0000598	HP:0000369	Low-set ears	5	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare		4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0000369	Low-set ears	5	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0008544	Abnormally folded helix	5	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0000369	Low-set ears	5	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent		51
HP:0000598	HP:0000369	Low-set ears	5	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.		51
HP:0000598	HP:0000369	Low-set ears	5	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.		13
HP:0000598	HP:0000369	Low-set ears	5	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000598	HP:0000391	Thickened helices	5	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000598	HP:0000358	Posteriorly rotated ears	5	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0000598	HP:0000369	Low-set ears	5	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0009902	Cleft helix	5	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent		6
HP:0000598	HP:0008513	Bilateral conductive hearing impairment	5	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	HP:0040283 - Occasional		6
HP:0000598	HP:0000369	Low-set ears	5	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.		3
HP:0000598	HP:0008551	Microtia	5	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0000598	HP:0000369	Low-set ears	5	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.		4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0000598	HP:0000369	Low-set ears	5	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0000598	HP:0000369	Low-set ears	5	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.		60
HP:0000598	HP:0000369	Low-set ears	5	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.		45
HP:0000598	HP:0000369	Low-set ears	5	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0000598	HP:0000369	Low-set ears	5	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0000598	HP:0008544	Abnormally folded helix	5	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000598	HP:0008551	Microtia	5	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0000598	HP:0000369	Low-set ears	5	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0000598	HP:0008544	Abnormally folded helix	5	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0008551	Microtia	5	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0000598	HP:0009748	Large earlobe	5	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent		48
HP:0000598	HP:0009913	Aplasia/Hypoplasia of the tragus	5	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000598	HP:0009909	Uplifted earlobe	5	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0000598	HP:0009748	Large earlobe	5	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent		8
HP:0000598	HP:0000358	Posteriorly rotated ears	5	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000598	HP:0000369	Low-set ears	5	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.		4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0008551	Microtia	5	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000598	HP:0000410	Mixed hearing impairment	5	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88			1
HP:0000598	HP:0000369	Low-set ears	5	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0000369	Low-set ears	5	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000598	HP:0009748	Large earlobe	5	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000598	HP:0000410	Mixed hearing impairment	5	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0000598	HP:0005103	Calcification of the auricular cartilage	5	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare		151
HP:0000598	HP:0008628	Abnormality of the stapes	5	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000598	HP:0000369	Low-set ears	5	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000598	HP:0000358	Posteriorly rotated ears	5	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0000598	HP:0008523	Posterior helix pit	5	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.		250
HP:0000598	HP:0000369	Low-set ears	5	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent		250
HP:0000598	HP:0010532	Paroxysmal vertigo	5	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		112
HP:0000598	HP:0000369	Low-set ears	5	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0000598	HP:0000369	Low-set ears	5	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000598	HP:0000369	Low-set ears	5	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.		158
HP:0000598	HP:0000369	Low-set ears	5	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.		83
HP:0000598	HP:0008615	Adult onset sensorineural hearing impairment	5	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		199
HP:0000598	HP:0008615	Adult onset sensorineural hearing impairment	5	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		55
HP:0000598	HP:0011386	Narrow internal auditory canal	5	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		12
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000598	HP:0000369	Low-set ears	5	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0000598	HP:0000369	Low-set ears	5	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0000598	HP:0008568	Vestibular areflexia	5	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement	.		33
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000598	HP:0000395	Prominent antihelix	5	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.		209
HP:0000598	HP:0000395	Prominent antihelix	5	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.		137
HP:0000598	HP:0000369	Low-set ears	5	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000598	HP:0000369	Low-set ears	5	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000598	HP:0000358	Posteriorly rotated ears	5	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000598	HP:0000369	Low-set ears	5	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000598	HP:0000369	Low-set ears	5	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000598	HP:0000369	Low-set ears	5	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000598	HP:0008586	Hypoplasia of the cochlea	5	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0011388	Enlarged cochlear aqueduct	5	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	5	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0000598	HP:0000369	Low-set ears	5	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000598	HP:0000410	Mixed hearing impairment	5	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000598	HP:0004458	Dilatated internal auditory canal	5	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000598	HP:0008551	Microtia	5	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000598	HP:0008554	Cochlear malformation	5	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000598	HP:0008586	Hypoplasia of the cochlea	5	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	5	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0000598	HP:0000410	Mixed hearing impairment	5	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0004458	Dilatated internal auditory canal	5	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.		135
HP:0000598	HP:0008551	Microtia	5	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0008554	Cochlear malformation	5	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0008586	Hypoplasia of the cochlea	5	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.		135
HP:0000598	HP:0011387	Enlarged vestibular aqueduct	5	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	5	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0000410	Mixed hearing impairment	5	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0008586	Hypoplasia of the cochlea	5	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	5	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000358	Posteriorly rotated ears	5	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0000598	HP:0000369	Low-set ears	5	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000369	Low-set ears	5	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent		35
HP:0000598	HP:0000369	Low-set ears	5	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent		35
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0000598	HP:0000369	Low-set ears	5	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.		35
HP:0000598	HP:0000410	Mixed hearing impairment	5	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0000598	HP:0000369	Low-set ears	5	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0000598	HP:0008544	Abnormally folded helix	5	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0000598	HP:0008551	Microtia	5	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0000598	HP:0009892	Anotia	5	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional		58
HP:0000598	HP:0011267	Microtia, third degree	5	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional		58
HP:0000598	HP:0000369	Low-set ears	5	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000598	HP:0008551	Microtia	5	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000598	HP:0000369	Low-set ears	5	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0000598	HP:0008551	Microtia	5	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional		53
HP:0000598	HP:0009892	Anotia	5	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0000598	HP:0008551	Microtia	5	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent		114
HP:0000598	HP:0008551	Microtia	5	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0000598	HP:0000369	Low-set ears	5	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		114
HP:0000598	HP:0008551	Microtia	5	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0000598	HP:0000369	Low-set ears	5	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0000598	HP:0000369	Low-set ears	5	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent		1361
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent		1361
HP:0000598	HP:0000369	Low-set ears	5	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent		1361
HP:0000598	HP:0000391	Thickened helices	5	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000598	HP:0008544	Abnormally folded helix	5	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0000598	HP:0000369	Low-set ears	5	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0000598	HP:0008551	Microtia	5	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0000598	HP:0000410	Mixed hearing impairment	5	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000598	HP:0000369	Low-set ears	5	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0000598	HP:0000369	Low-set ears	5	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0000598	HP:0009748	Large earlobe	5	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.		62
HP:0000598	HP:0000369	Low-set ears	5	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000410	Mixed hearing impairment	5	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000410	Mixed hearing impairment	5	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.		17
HP:0000598	HP:0008551	Microtia	5	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		17
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		3
HP:0000598	HP:0000369	Low-set ears	5	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		2
HP:0000598	HP:0008551	Microtia	5	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040281 - Very frequent		18
HP:0000598	HP:0011372	Aplasia of the inner ear	5	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040281 - Very frequent		18
HP:0000598	HP:0040080	Anteverted ears	5	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.		18
HP:0000598	HP:0008551	Microtia	5	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0000598	HP:0011266	Microtia, first degree	5	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.		18
HP:0000598	HP:0011372	Aplasia of the inner ear	5	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.		18
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	5	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.	HP:0003577 - Congenital onset	18
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040281 - Very frequent		18
HP:0000598	HP:0001757	High-frequency sensorineural hearing impairment	5	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent		18
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		17
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.		172
HP:0000598	HP:0000369	Low-set ears	5	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0000598	HP:0000369	Low-set ears	5	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.		172
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		172
HP:0000598	HP:0000369	Low-set ears	5	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0000598	HP:0000369	Low-set ears	5	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040282 - Frequent		172
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent		175
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0000598	HP:0000369	Low-set ears	5	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0000598	HP:0000369	Low-set ears	5	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.		175
HP:0000598	HP:0011386	Narrow internal auditory canal	5	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		175
HP:0000598	HP:0000391	Thickened helices	5	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent		175
HP:0000598	HP:0000369	Low-set ears	5	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0000598	HP:0008544	Abnormally folded helix	5	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0000598	HP:0000369	Low-set ears	5	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0000410	Mixed hearing impairment	5	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.		175
HP:0000598	HP:0000410	Mixed hearing impairment	5	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0008551	Microtia	5	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		175
HP:0000598	HP:0000369	Low-set ears	5	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040282 - Frequent		175
HP:0000598	HP:0000369	Low-set ears	5	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent		175
HP:0000598	HP:0000369	Low-set ears	5	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040282 - Frequent		175
HP:0000598	HP:0000369	Low-set ears	5	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.		175
HP:0000598	HP:0000369	Low-set ears	5	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0000598	HP:0008551	Microtia	5	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.		175
HP:0000598	HP:0008551	Microtia	5	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		175
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000598	HP:0011386	Narrow internal auditory canal	5	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		175
HP:0000598	HP:0000369	Low-set ears	5	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:0000410	Mixed hearing impairment	5	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.		145
HP:0000598	HP:0000410	Mixed hearing impairment	5	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:0008551	Microtia	5	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		145
HP:0000598	HP:0000369	Low-set ears	5	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:0008551	Microtia	5	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		145
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000598	HP:0011386	Narrow internal auditory canal	5	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		145
HP:0000598	HP:0010532	Paroxysmal vertigo	5	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		301
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0000598	HP:0000369	Low-set ears	5	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0000598	HP:0000369	Low-set ears	5	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0000598	HP:0000369	Low-set ears	5	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0000598	HP:0000395	Prominent antihelix	5	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0008551	Microtia	5	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000598	HP:0000410	Mixed hearing impairment	5	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040284 - Very rare		13
HP:0000598	HP:0001757	High-frequency sensorineural hearing impairment	5	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.		13
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000598	HP:0008551	Microtia	5	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		157
HP:0000598	HP:0000369	Low-set ears	5	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		157
HP:0000598	HP:0000369	Low-set ears	5	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000598	HP:0008551	Microtia	5	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		184
HP:0000598	HP:0000369	Low-set ears	5	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		184
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000598	HP:0000369	Low-set ears	5	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent		8
HP:0000598	HP:0011245	Abnormality of superior crus of antihelix	5	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0000598	HP:0000410	Mixed hearing impairment	5	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		493
HP:0000598	HP:0000369	Low-set ears	5	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.		493
HP:0000598	HP:0000369	Low-set ears	5	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent		493
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0000598	HP:0000369	Low-set ears	5	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0000598	HP:0000369	Low-set ears	5	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0000598	HP:0000369	Low-set ears	5	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional		233
HP:0000598	HP:0000369	Low-set ears	5	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0000598	HP:0000410	Mixed hearing impairment	5	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0000598	HP:0008544	Abnormally folded helix	5	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000598	HP:0000369	Low-set ears	5	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0000598	HP:0011387	Enlarged vestibular aqueduct	5	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct	.		33
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.		33
HP:0000598	HP:0008554	Cochlear malformation	5	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.		33
HP:0000598	HP:0008586	Hypoplasia of the cochlea	5	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		33
HP:0000598	HP:0011387	Enlarged vestibular aqueduct	5	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		33
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	5	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0000598	HP:0000369	Low-set ears	5	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent		92
HP:0000598	HP:0008589	Hypoplastic helices	5	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0000598	HP:0008544	Abnormally folded helix	5	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000598	HP:0000369	Low-set ears	5	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000598	HP:0000369	Low-set ears	5	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0000598	HP:0008589	Hypoplastic helices	5	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0000598	HP:0000369	Low-set ears	5	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0000598	HP:0008544	Abnormally folded helix	5	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000598	HP:0000369	Low-set ears	5	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.		1
HP:0000598	HP:0000369	Low-set ears	5	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.		1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		105
HP:0000598	HP:0030183	Impaired visually enhanced vestibulo-ocular reflex	5	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent		18
HP:0000598	HP:0000358	Posteriorly rotated ears	5	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000369	Low-set ears	5	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0000369	Low-set ears	5	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000598	HP:0008551	Microtia	5	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0000369	Low-set ears	5	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000598	HP:0010722	Asymmetry of the ears	5	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0000369	Low-set ears	5	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0000369	Low-set ears	5	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0000598	HP:0008551	Microtia	5	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0000598	HP:0008551	Microtia	5	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.		29
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040280 - Obligate		83
HP:0000598	HP:0000369	Low-set ears	5	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent		87
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000598	HP:0000369	Low-set ears	5	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000598	HP:0000369	Low-set ears	5	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000598	HP:0008551	Microtia	5	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000598	HP:0000391	Thickened helices	5	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000598	HP:0011261	Darwin tubercle of helix	5	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000598	HP:0000410	Mixed hearing impairment	5	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant			64
HP:0000598	HP:0008628	Abnormality of the stapes	5	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4			64
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent		14
HP:0000598	HP:0000369	Low-set ears	5	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		1
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15			40
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15			40
HP:0000598	HP:0000410	Mixed hearing impairment	5	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.		68
HP:0000598	HP:0000369	Low-set ears	5	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0000598	HP:0009748	Large earlobe	5	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0000598	HP:0000369	Low-set ears	5	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000598	HP:0000369	Low-set ears	5	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2	.		199
HP:0000598	HP:0000410	Mixed hearing impairment	5	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0004458	Dilatated internal auditory canal	5	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0008628	Abnormality of the stapes	5	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	5	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000598	HP:0000410	Mixed hearing impairment	5	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0000598	HP:0008615	Adult onset sensorineural hearing impairment	5	GJB6 CL E G H	10804	4288	OMIM:612643	Deafness, autosomal dominant 3B	.		56
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2	.		56
HP:0000598	HP:0000410	Mixed hearing impairment	5	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0004458	Dilatated internal auditory canal	5	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0008628	Abnormality of the stapes	5	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	5	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000598	HP:0000369	Low-set ears	5	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0000598	HP:0000369	Low-set ears	5	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional		120
HP:0000598	HP:0000369	Low-set ears	5	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0000598	HP:0000369	Low-set ears	5	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0000598	HP:0000395	Prominent antihelix	5	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	.		173
HP:0000598	HP:0009913	Aplasia/Hypoplasia of the tragus	5	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare		270
HP:0000598	HP:0000369	Low-set ears	5	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000598	HP:0008551	Microtia	5	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent		270
HP:0000598	HP:0008551	Microtia	5	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare		270
HP:0000598	HP:0000369	Low-set ears	5	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.		143
HP:0000598	HP:0000369	Low-set ears	5	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0000369	Low-set ears	5	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0008551	Microtia	5	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0000598	HP:0009892	Anotia	5	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0011267	Microtia, third degree	5	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0008551	Microtia	5	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0000598	HP:0000369	Low-set ears	5	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0009902	Cleft helix	5	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0000598	HP:0000369	Low-set ears	5	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0000598	HP:0008544	Abnormally folded helix	5	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000598	HP:0008589	Hypoplastic helices	5	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000598	HP:0009902	Cleft helix	5	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000598	HP:0008544	Abnormally folded helix	5	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0008544	Abnormally folded helix	5	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0000369	Low-set ears	5	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000598	HP:0000369	Low-set ears	5	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0000598	HP:0000369	Low-set ears	5	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		15
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		92
HP:0000598	HP:0000369	Low-set ears	5	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0000598	HP:0000369	Low-set ears	5	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		23
HP:0000598	HP:0000369	Low-set ears	5	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		8
HP:0000598	HP:0008544	Abnormally folded helix	5	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		8
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0000598	HP:0000369	Low-set ears	5	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0000598	HP:0008523	Posterior helix pit	5	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000598	HP:0009908	Anterior creases of earlobe	5	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000598	HP:0000369	Low-set ears	5	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000598	HP:0000369	Low-set ears	5	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000598	HP:0008523	Posterior helix pit	5	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000598	HP:0009908	Anterior creases of earlobe	5	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent		99
HP:0000598	HP:0000369	Low-set ears	5	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent		99
HP:0000598	HP:0000369	Low-set ears	5	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040282 - Frequent
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	5	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0000598	HP:0000369	Low-set ears	5	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0000598	HP:0000369	Low-set ears	5	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0011375	Cochlear aplasia	5	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0011379	Dilated vestibule of the inner ear	5	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	5	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0000369	Low-set ears	5	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0000598	HP:0009909	Uplifted earlobe	5	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000598	HP:0000369	Low-set ears	5	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25			36
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101	.		3
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5	.		87
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000598	HP:0000369	Low-set ears	5	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0000598	HP:0008523	Posterior helix pit	5	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000598	HP:0000369	Low-set ears	5	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000598	HP:0000369	Low-set ears	5	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000598	HP:0000369	Low-set ears	5	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0000391	Thickened helices	5	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000598	HP:0000358	Posteriorly rotated ears	5	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000598	HP:0000369	Low-set ears	5	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000598	HP:0008554	Cochlear malformation	5	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0000598	HP:0000369	Low-set ears	5	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		200
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0000598	HP:0000369	Low-set ears	5	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		88
HP:0000598	HP:0011265	Cleft earlobe	5	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0000598	HP:0000369	Low-set ears	5	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.		2
HP:0000598	HP:0000369	Low-set ears	5	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent		2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0000369	Low-set ears	5	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000598	HP:0008551	Microtia	5	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0000598	HP:0000369	Low-set ears	5	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000598	HP:0000369	Low-set ears	5	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0000598	HP:0000369	Low-set ears	5	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0000598	HP:0000369	Low-set ears	5	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0000598	HP:0000369	Low-set ears	5	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39	.		39
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39			39
HP:0000598	HP:0000369	Low-set ears	5	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0008544	Abnormally folded helix	5	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000598	HP:0008551	Microtia	5	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000598	HP:0009907	Attached earlobe	5	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000598	HP:0000369	Low-set ears	5	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		2
HP:0000598	HP:0040080	Anteverted ears	5	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.		2
HP:0000598	HP:0000369	Low-set ears	5	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000598	HP:0000369	Low-set ears	5	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000598	HP:0008551	Microtia	5	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.		8
HP:0000598	HP:0008551	Microtia	5	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040283 - Occasional		11
HP:0000598	HP:0008551	Microtia	5	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040280 - Obligate		21
HP:0000598	HP:0008589	Hypoplastic helices	5	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent		21
HP:0000598	HP:0009892	Anotia	5	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent		21
HP:0000598	HP:0000410	Mixed hearing impairment	5	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0008544	Abnormally folded helix	5	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0008551	Microtia	5	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0031228	Abnormal incisura morphology	5	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional		2
HP:0000598	HP:0000369	Low-set ears	5	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional		2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0000598	HP:0000369	Low-set ears	5	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0000598	HP:0000369	Low-set ears	5	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0000598	HP:0000369	Low-set ears	5	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0000598	HP:0009748	Large earlobe	5	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040283 - Occasional		113
HP:0000598	HP:0011387	Enlarged vestibular aqueduct	5	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0000369	Low-set ears	5	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0009907	Attached earlobe	5	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		8
HP:0000598	HP:0000369	Low-set ears	5	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0000598	HP:0008551	Microtia	5	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0000598	HP:0000369	Low-set ears	5	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000598	HP:0008551	Microtia	5	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0000369	Low-set ears	5	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000598	HP:0008551	Microtia	5	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.		345
HP:0000598	HP:0000369	Low-set ears	5	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000598	HP:0000369	Low-set ears	5	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000598	HP:0008544	Abnormally folded helix	5	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000598	HP:0000369	Low-set ears	5	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0000598	HP:0008544	Abnormally folded helix	5	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000598	HP:0000369	Low-set ears	5	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000598	HP:0000358	Posteriorly rotated ears	5	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0000598	HP:0000369	Low-set ears	5	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent		31
HP:0000598	HP:0000369	Low-set ears	5	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0000598	HP:0000369	Low-set ears	5	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		31
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0000598	HP:0008628	Abnormality of the stapes	5	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000598	HP:0008628	Abnormality of the stapes	5	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000598	HP:0000369	Low-set ears	5	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0000598	HP:0000369	Low-set ears	5	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0000598	HP:0000358	Posteriorly rotated ears	5	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000598	HP:0000369	Low-set ears	5	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000598	HP:0000358	Posteriorly rotated ears	5	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0000598	HP:0000369	Low-set ears	5	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0000598	HP:0000358	Posteriorly rotated ears	5	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.		4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0000598	HP:0000369	Low-set ears	5	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0000598	HP:0000369	Low-set ears	5	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0000598	HP:0000369	Low-set ears	5	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0000598	HP:0000369	Low-set ears	5	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000410	Mixed hearing impairment	5	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0000598	HP:0000369	Low-set ears	5	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0000598	HP:0008523	Posterior helix pit	5	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0000598	HP:0000369	Low-set ears	5	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.		9
HP:0000598	HP:0000369	Low-set ears	5	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		9
HP:0000598	HP:0008628	Abnormality of the stapes	5	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0011454	Abnormality of the malleus	5	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0009909	Uplifted earlobe	5	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21	.		42
HP:0000598	HP:0000358	Posteriorly rotated ears	5	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000598	HP:0000369	Low-set ears	5	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000598	HP:0000369	Low-set ears	5	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		111
HP:0000598	HP:0000369	Low-set ears	5	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000598	HP:0000369	Low-set ears	5	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		111
HP:0000598	HP:0000358	Posteriorly rotated ears	5	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000598	HP:0000369	Low-set ears	5	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000598	HP:0000358	Posteriorly rotated ears	5	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0000598	HP:0000369	Low-set ears	5	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0000598	HP:0000369	Low-set ears	5	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0000598	HP:0000369	Low-set ears	5	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional		229
HP:0000598	HP:0000369	Low-set ears	5	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000598	HP:0000369	Low-set ears	5	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000598	HP:0000369	Low-set ears	5	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000598	HP:0008551	Microtia	5	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0000369	Low-set ears	5	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000598	HP:0000369	Low-set ears	5	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0000598	HP:0000369	Low-set ears	5	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000598	HP:0000369	Low-set ears	5	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0000598	HP:0000369	Low-set ears	5	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		119
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		69
HP:0000598	HP:0008551	Microtia	5	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0000598	HP:0000369	Low-set ears	5	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		4
HP:0000598	HP:0000369	Low-set ears	5	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.		4
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		80
HP:0000598	HP:0008551	Microtia	5	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0000598	HP:0000369	Low-set ears	5	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000598	HP:0000369	Low-set ears	5	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0008544	Abnormally folded helix	5	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000598	HP:0040080	Anteverted ears	5	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000598	HP:0008544	Abnormally folded helix	5	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	5	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000598	HP:0000369	Low-set ears	5	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.		34
HP:0000598	HP:0000369	Low-set ears	5	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0000395	Prominent antihelix	5	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0040080	Anteverted ears	5	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0008593	Prominent antitragus	5	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0009913	Aplasia/Hypoplasia of the tragus	5	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000598	HP:0000369	Low-set ears	5	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent		141
HP:0000598	HP:0000369	Low-set ears	5	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent		141
HP:0000598	HP:0000369	Low-set ears	5	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent		141
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.		141
HP:0000598	HP:0000369	Low-set ears	5	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.		141
HP:0000598	HP:0000369	Low-set ears	5	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000598	HP:0000369	Low-set ears	5	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		10
HP:0000598	HP:0000369	Low-set ears	5	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000598	HP:0008551	Microtia	5	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent		148
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	5	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent		148
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2	.		148
HP:0000598	HP:0002265	Large fleshy ears	5	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		13
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0000598	HP:0000369	Low-set ears	5	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000598	HP:0011387	Enlarged vestibular aqueduct	5	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct	.		121
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.		121
HP:0000598	HP:0008554	Cochlear malformation	5	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.		121
HP:0000598	HP:0008586	Hypoplasia of the cochlea	5	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		121
HP:0000598	HP:0011387	Enlarged vestibular aqueduct	5	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		121
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	5	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0000598	HP:0000369	Low-set ears	5	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.		193
HP:0000598	HP:0000369	Low-set ears	5	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		193
HP:0000598	HP:0000369	Low-set ears	5	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		128
HP:0000598	HP:0000369	Low-set ears	5	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000598	HP:0002265	Large fleshy ears	5	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		7
HP:0000598	HP:0008523	Posterior helix pit	5	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent		730
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	5	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent		730
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1	.		730
HP:0000598	HP:0008523	Posterior helix pit	5	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0000598	HP:0008551	Microtia	5	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0000598	HP:0008551	Microtia	5	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent		11
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0000598	HP:0009913	Aplasia/Hypoplasia of the tragus	5	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000598	HP:0009913	Aplasia/Hypoplasia of the tragus	5	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0000598	HP:0011251	Underdeveloped antitragus	5	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0000598	HP:0011251	Underdeveloped antitragus	5	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent		11
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000598	HP:0000369	Low-set ears	5	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0000598	HP:0000369	Low-set ears	5	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000598	HP:0000369	Low-set ears	5	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000598	HP:0000369	Low-set ears	5	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		24
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000598	HP:0000369	Low-set ears	5	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0000598	HP:0008544	Abnormally folded helix	5	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000598	HP:0000369	Low-set ears	5	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000598	HP:0000369	Low-set ears	5	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000598	HP:0000369	Low-set ears	5	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0000598	HP:0000369	Low-set ears	5	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0000598	HP:0000369	Low-set ears	5	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	HP:0040283 - Occasional		9
HP:0000598	HP:0000369	Low-set ears	5	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008551	Microtia	5	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0010532	Paroxysmal vertigo	5	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		202
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000598	HP:0000369	Low-set ears	5	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.		167
HP:0000598	HP:0000369	Low-set ears	5	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0000598	HP:0000369	Low-set ears	5	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent		167
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000598	HP:0000369	Low-set ears	5	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000598	HP:0000369	Low-set ears	5	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		3
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		14
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000598	HP:0000369	Low-set ears	5	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		28
HP:0000598	HP:0000369	Low-set ears	5	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		13
HP:0000598	HP:0000369	Low-set ears	5	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		13
HP:0000598	HP:0000369	Low-set ears	5	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0000598	HP:0000369	Low-set ears	5	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000598	HP:0009909	Uplifted earlobe	5	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0000598	HP:0000369	Low-set ears	5	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000598	HP:0000369	Low-set ears	5	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000598	HP:0000391	Thickened helices	5	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2	.		196
HP:0000598	HP:0000369	Low-set ears	5	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2	.		196
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0000369	Low-set ears	5	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0000391	Thickened helices	5	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		196
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000598	HP:0000358	Posteriorly rotated ears	5	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000598	HP:0000369	Low-set ears	5	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000598	HP:0000391	Thickened helices	5	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent		5
HP:0000598	HP:0000369	Low-set ears	5	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.		5
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	5	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000369	Low-set ears	5	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000598	HP:0008551	Microtia	5	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0000598	HP:0000358	Posteriorly rotated ears	5	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		136
HP:0000598	HP:0000369	Low-set ears	5	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		136
HP:0000598	HP:0000369	Low-set ears	5	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.		16
HP:0000598	HP:0000369	Low-set ears	5	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent		16
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000598	HP:0008551	Microtia	5	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0000598	HP:0000369	Low-set ears	5	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0000598	HP:0000369	Low-set ears	5	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0000369	Low-set ears	5	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000598	HP:0008551	Microtia	5	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0000598	HP:0000369	Low-set ears	5	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	LHFPL5 CL E G H	222662	21253	OMIM:610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67			93
HP:0000598	HP:0000369	Low-set ears	5	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0000598	HP:0000358	Posteriorly rotated ears	5	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000598	HP:0000369	Low-set ears	5	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000598	HP:0000358	Posteriorly rotated ears	5	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.		46
HP:0000598	HP:0008551	Microtia	5	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.		46
HP:0000598	HP:0001757	High-frequency sensorineural hearing impairment	5	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0000598	HP:0008573	Low-frequency sensorineural hearing impairment	5	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0000598	HP:0009904	Prominent ear helix	5	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0000598	HP:0000369	Low-set ears	5	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0000598	HP:0000369	Low-set ears	5	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		11
HP:0000598	HP:0000369	Low-set ears	5	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional		165
HP:0000598	HP:0008544	Abnormally folded helix	5	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	LOXHD1 CL E G H	125336	26521	OMIM:613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77			278
HP:0000598	HP:0000358	Posteriorly rotated ears	5	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0000358	Posteriorly rotated ears	5	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent		289
HP:0000598	HP:0000369	Low-set ears	5	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000598	HP:0000369	Low-set ears	5	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant	.		3
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63			78
HP:0000598	HP:0000369	Low-set ears	5	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000358	Posteriorly rotated ears	5	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000369	Low-set ears	5	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0008551	Microtia	5	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000358	Posteriorly rotated ears	5	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0000598	HP:0000369	Low-set ears	5	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0000369	Low-set ears	5	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0000391	Thickened helices	5	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		43
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000598	HP:0000369	Low-set ears	5	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0000598	HP:0000358	Posteriorly rotated ears	5	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0000598	HP:0000369	Low-set ears	5	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000598	HP:0000369	Low-set ears	5	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000598	HP:0000369	Low-set ears	5	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000598	HP:0000369	Low-set ears	5	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0000598	HP:0000369	Low-set ears	5	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0000598	HP:0008551	Microtia	5	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional		21
HP:0000598	HP:0000369	Low-set ears	5	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.		21
HP:0000598	HP:0008551	Microtia	5	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional		21
HP:0000598	HP:0011386	Narrow internal auditory canal	5	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000598	HP:0000369	Low-set ears	5	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0000598	HP:0000369	Low-set ears	5	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent		93
HP:0000598	HP:0000369	Low-set ears	5	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000598	HP:0000410	Mixed hearing impairment	5	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional		136
HP:0000598	HP:0000410	Mixed hearing impairment	5	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent		136
HP:0000598	HP:0008551	Microtia	5	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0011265	Cleft earlobe	5	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0008551	Microtia	5	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0030026	Squared superior portion of helix	5	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000598	HP:0000369	Low-set ears	5	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000598	HP:0000391	Thickened helices	5	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0000598	HP:0000369	Low-set ears	5	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000598	HP:0000369	Low-set ears	5	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000598	HP:0000391	Thickened helices	5	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0000598	HP:0000369	Low-set ears	5	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0000598	HP:0000369	Low-set ears	5	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0005473	Fusion of middle ear ossicles	5	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0000598	HP:0011387	Enlarged vestibular aqueduct	5	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000598	HP:0000410	Mixed hearing impairment	5	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		11
HP:0000598	HP:0000369	Low-set ears	5	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000598	HP:0000369	Low-set ears	5	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000598	HP:0000369	Low-set ears	5	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0000598	HP:0000369	Low-set ears	5	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.		4
HP:0000598	HP:0000369	Low-set ears	5	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.		4
HP:0000598	HP:0008544	Abnormally folded helix	5	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0008551	Microtia	5	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.		4
HP:0000598	HP:0009909	Uplifted earlobe	5	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040283 - Occasional		25
HP:0000598	HP:0000369	Low-set ears	5	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.		25
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49	.		61
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49			61
HP:0000598	HP:0000369	Low-set ears	5	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional		21
HP:0000598	HP:0002265	Large fleshy ears	5	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		21
HP:0000598	HP:0010532	Paroxysmal vertigo	5	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		84
HP:0000598	HP:0000369	Low-set ears	5	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000598	HP:0008551	Microtia	5	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0000598	HP:0000369	Low-set ears	5	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent		22
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70			1
HP:0000598	HP:0000369	Low-set ears	5	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.		2
HP:0000598	HP:0008551	Microtia	5	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.		2
HP:0000598	HP:0000369	Low-set ears	5	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0000598	HP:0010532	Paroxysmal vertigo	5	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		4
HP:0000598	HP:0000369	Low-set ears	5	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.		950
HP:0000598	HP:0008551	Microtia	5	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0000598	HP:0000369	Low-set ears	5	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		228
HP:0000598	HP:0000369	Low-set ears	5	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0000598	HP:0008544	Abnormally folded helix	5	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0000369	Low-set ears	5	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0008551	Microtia	5	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000598	HP:0008551	Microtia	5	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000598	HP:0011266	Microtia, first degree	5	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0000598	HP:0000369	Low-set ears	5	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent		74
HP:0000598	HP:0000369	Low-set ears	5	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0000598	HP:0000369	Low-set ears	5	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0000598	HP:0000369	Low-set ears	5	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000598	HP:0000369	Low-set ears	5	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.		132
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0000598	HP:0008551	Microtia	5	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0000369	Low-set ears	5	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000598	HP:0000369	Low-set ears	5	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.		13
HP:0000598	HP:0000369	Low-set ears	5	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0000369	Low-set ears	5	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000598	HP:0000369	Low-set ears	5	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0000369	Low-set ears	5	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000598	HP:0000358	Posteriorly rotated ears	5	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000598	HP:0000369	Low-set ears	5	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000598	HP:0008587	Mild neurosensory hearing impairment	5	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	HP:0040283 - Occasional		203
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0000598	HP:0000369	Low-set ears	5	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0000598	HP:0000395	Prominent antihelix	5	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0000598	HP:0005103	Calcification of the auricular cartilage	5	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0000598	HP:0000369	Low-set ears	5	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000598	HP:0000369	Low-set ears	5	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000598	HP:0000369	Low-set ears	5	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50	.		4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.		91
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome	.		91
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome	.		91
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0000598	HP:0000369	Low-set ears	5	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0000598	HP:0000369	Low-set ears	5	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0000598	HP:0000369	Low-set ears	5	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		127
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000598	HP:0000369	Low-set ears	5	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0000598	HP:0000369	Low-set ears	5	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0000598	HP:0000369	Low-set ears	5	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000598	HP:0009748	Large earlobe	5	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare		101
HP:0000598	HP:0000369	Low-set ears	5	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000369	Low-set ears	5	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0008551	Microtia	5	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000598	HP:0000369	Low-set ears	5	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000598	HP:0040121	Abnormality of the acoustic reflex	5	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.		29
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J	.		134
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000369	Low-set ears	5	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000391	Thickened helices	5	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0000369	Low-set ears	5	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000598	HP:0000369	Low-set ears	5	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0000598	HP:0000369	Low-set ears	5	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0000598	HP:0000369	Low-set ears	5	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.		60
HP:0000598	HP:0000369	Low-set ears	5	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.		25
HP:0000598	HP:0000369	Low-set ears	5	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.		25
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0000369	Low-set ears	5	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0000369	Low-set ears	5	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000598	HP:0008551	Microtia	5	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0000598	HP:0000369	Low-set ears	5	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional		183
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		72
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0000598	HP:0000369	Low-set ears	5	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0000598	HP:0000369	Low-set ears	5	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0000598	HP:0000369	Low-set ears	5	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4	.		227
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent		227
HP:0000598	HP:0000369	Low-set ears	5	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0000598	HP:0000369	Low-set ears	5	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000598	HP:0000369	Low-set ears	5	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	5	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3	.	HP:0003577 - Congenital onset	387
HP:0000598	HP:0000369	Low-set ears	5	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30	.		168
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22	.		179
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11	.		516
HP:0000598	HP:0008555	Absent vestibular function	5	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.		516
HP:0000598	HP:0000369	Low-set ears	5	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0000598	HP:0000358	Posteriorly rotated ears	5	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0000598	HP:0000369	Low-set ears	5	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000598	HP:0000369	Low-set ears	5	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000598	HP:0000369	Low-set ears	5	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000598	HP:0000369	Low-set ears	5	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0000598	HP:0008544	Abnormally folded helix	5	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000598	HP:0000369	Low-set ears	5	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0000598	HP:0000369	Low-set ears	5	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional		23
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000598	HP:0000369	Low-set ears	5	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000598	HP:0000369	Low-set ears	5	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000598	HP:0000369	Low-set ears	5	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000598	HP:0000369	Low-set ears	5	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000598	HP:0002265	Large fleshy ears	5	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000598	HP:0008544	Abnormally folded helix	5	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94			34
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0000369	Low-set ears	5	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008610	Infantile sensorineural hearing impairment	5	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent		96
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000598	HP:0000369	Low-set ears	5	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		96
HP:0000598	HP:0011265	Cleft earlobe	5	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000369	Low-set ears	5	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		745
HP:0000598	HP:0000369	Low-set ears	5	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0000598	HP:0000369	Low-set ears	5	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		745
HP:0000598	HP:0000369	Low-set ears	5	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0000369	Low-set ears	5	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000598	HP:0008551	Microtia	5	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000369	Low-set ears	5	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent		43
HP:0000598	HP:0000369	Low-set ears	5	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0000598	HP:0000369	Low-set ears	5	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare		1952
HP:0000598	HP:0010532	Paroxysmal vertigo	5	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		1952
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0000369	Low-set ears	5	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0000369	Low-set ears	5	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0000598	HP:0000369	Low-set ears	5	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0000598	HP:0009589	Bilateral vestibular schwannoma	5	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040282 - Frequent		220
HP:0000598	HP:0009589	Bilateral vestibular schwannoma	5	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0009590	Unilateral vestibular schwannoma	5	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0000598	HP:0000369	Low-set ears	5	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.		12
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0000598	HP:0000369	Low-set ears	5	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0000598	HP:0008551	Microtia	5	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0000598	HP:0000369	Low-set ears	5	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0000598	HP:0008513	Bilateral conductive hearing impairment	5	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0008544	Abnormally folded helix	5	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000598	HP:0000369	Low-set ears	5	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0000598	HP:0008551	Microtia	5	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0000598	HP:0008551	Microtia	5	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.		55
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0000369	Low-set ears	5	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000598	HP:0000369	Low-set ears	5	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000598	HP:0031228	Abnormal incisura morphology	5	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent		217
HP:0000598	HP:0008513	Bilateral conductive hearing impairment	5	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000598	HP:0008607	Progressive conductive hearing impairment	5	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0000598	HP:0008628	Abnormality of the stapes	5	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000598	HP:0008628	Abnormality of the stapes	5	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0000598	HP:0008628	Abnormality of the stapes	5	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000598	HP:0000369	Low-set ears	5	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0000598	HP:0000369	Low-set ears	5	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0000598	HP:0009748	Large earlobe	5	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent		144
HP:0000598	HP:0000369	Low-set ears	5	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0000598	HP:0000369	Low-set ears	5	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent		144
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0000598	HP:0000369	Low-set ears	5	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0000598	HP:0000369	Low-set ears	5	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0000598	HP:0000395	Prominent antihelix	5	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000598	HP:0009909	Uplifted earlobe	5	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000598	HP:0011261	Darwin tubercle of helix	5	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0000369	Low-set ears	5	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0000391	Thickened helices	5	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		102
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000598	HP:0000369	Low-set ears	5	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0000369	Low-set ears	5	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0000598	HP:0000369	Low-set ears	5	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000598	HP:0009907	Attached earlobe	5	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0000369	Low-set ears	5	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000598	HP:0008551	Microtia	5	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		6
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000598	HP:0000369	Low-set ears	5	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000598	HP:0000369	Low-set ears	5	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000598	HP:0000369	Low-set ears	5	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	5	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		5
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	5	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000369	Low-set ears	5	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000598	HP:0009913	Aplasia/Hypoplasia of the tragus	5	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000598	HP:0011236	Angulated antihelix	5	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0000598	HP:0000369	Low-set ears	5	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000598	HP:0000369	Low-set ears	5	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0000598	HP:0000369	Low-set ears	5	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0000598	HP:0000369	Low-set ears	5	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0000598	HP:0000358	Posteriorly rotated ears	5	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000598	HP:0000369	Low-set ears	5	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000598	HP:0000369	Low-set ears	5	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0000598	HP:0000369	Low-set ears	5	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0000598	HP:0000358	Posteriorly rotated ears	5	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000598	HP:0000369	Low-set ears	5	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000598	HP:0000358	Posteriorly rotated ears	5	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0000598	HP:0000369	Low-set ears	5	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0000598	HP:0000369	Low-set ears	5	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		53
HP:0000598	HP:0000369	Low-set ears	5	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		53
HP:0000598	HP:0008551	Microtia	5	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0000598	HP:0009892	Anotia	5	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0000598	HP:0011267	Microtia, third degree	5	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0000598	HP:0000369	Low-set ears	5	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0000598	HP:0008551	Microtia	5	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0000598	HP:0008554	Cochlear malformation	5	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		21
HP:0000598	HP:0000369	Low-set ears	5	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		21
HP:0000598	HP:0008551	Microtia	5	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0000598	HP:0009892	Anotia	5	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0000598	HP:0011267	Microtia, third degree	5	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0000598	HP:0008551	Microtia	5	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		39
HP:0000598	HP:0000369	Low-set ears	5	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		39
HP:0000598	HP:0008551	Microtia	5	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0000598	HP:0009892	Anotia	5	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0000598	HP:0011267	Microtia, third degree	5	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0000598	HP:0000369	Low-set ears	5	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0000598	HP:0008551	Microtia	5	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	5	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000369	Low-set ears	5	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000598	HP:0040121	Abnormality of the acoustic reflex	5	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9			383
HP:0000598	HP:0000358	Posteriorly rotated ears	5	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000598	HP:0000369	Low-set ears	5	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000598	HP:0009748	Large earlobe	5	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000598	HP:0000369	Low-set ears	5	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0000369	Low-set ears	5	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.		4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0000598	HP:0000369	Low-set ears	5	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0000598	HP:0100663	Synotia	5	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0000598	HP:0011386	Narrow internal auditory canal	5	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41	.		23
HP:0000598	HP:0000369	Low-set ears	5	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent		24
HP:0000598	HP:0000369	Low-set ears	5	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000598	HP:0000369	Low-set ears	5	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040282 - Frequent		231
HP:0000598	HP:0008589	Hypoplastic helices	5	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare		641
HP:0000598	HP:0000369	Low-set ears	5	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000598	HP:0008551	Microtia	5	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	.
HP:0000598	HP:0000369	Low-set ears	5	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0000598	HP:0008551	Microtia	5	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0000598	HP:0000369	Low-set ears	5	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0000410	Mixed hearing impairment	5	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent		59
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000598	HP:0000369	Low-set ears	5	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000598	HP:0000369	Low-set ears	5	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0000598	HP:0000391	Thickened helices	5	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0000598	HP:0040080	Anteverted ears	5	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0000598	HP:0008551	Microtia	5	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0000598	HP:0008589	Hypoplastic helices	5	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF	.		352
HP:0000598	HP:0000369	Low-set ears	5	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000598	HP:0000369	Low-set ears	5	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000598	HP:0008551	Microtia	5	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000598	HP:0000369	Low-set ears	5	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.		6
HP:0000598	HP:0000369	Low-set ears	5	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent		531
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent		531
HP:0000598	HP:0008551	Microtia	5	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000598	HP:0000369	Low-set ears	5	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000369	Low-set ears	5	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0008551	Microtia	5	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA	.		40
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC	.		40
HP:0000598	HP:0000369	Low-set ears	5	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000598	HP:0000369	Low-set ears	5	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0000598	HP:0000369	Low-set ears	5	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000598	HP:0000369	Low-set ears	5	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000598	HP:0000369	Low-set ears	5	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.		75
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000598	HP:0000369	Low-set ears	5	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000598	HP:0000369	Low-set ears	5	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000598	HP:0000369	Low-set ears	5	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.		65
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000598	HP:0000369	Low-set ears	5	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000598	HP:0000369	Low-set ears	5	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000598	HP:0000369	Low-set ears	5	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000598	HP:0000369	Low-set ears	5	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000598	HP:0000369	Low-set ears	5	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000598	HP:0000369	Low-set ears	5	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000598	HP:0000369	Low-set ears	5	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.		106
HP:0000598	HP:0000369	Low-set ears	5	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.		106
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000598	HP:0000369	Low-set ears	5	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.		47
HP:0000598	HP:0000369	Low-set ears	5	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.		47
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000598	HP:0000369	Low-set ears	5	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000598	HP:0000369	Low-set ears	5	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.		99
HP:0000598	HP:0005102	Cochlear degeneration	5	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent		98
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000598	HP:0000369	Low-set ears	5	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000598	HP:0000395	Prominent antihelix	5	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000598	HP:0000391	Thickened helices	5	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000598	HP:0000391	Thickened helices	5	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0000598	HP:0008587	Mild neurosensory hearing impairment	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0000598	HP:0000369	Low-set ears	5	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0000598	HP:0009748	Large earlobe	5	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent		29
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.		86
HP:0000598	HP:0000369	Low-set ears	5	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.		86
HP:0000598	HP:0000369	Low-set ears	5	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0000598	HP:0000369	Low-set ears	5	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0000598	HP:0000369	Low-set ears	5	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0000598	HP:0008544	Abnormally folded helix	5	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0000369	Low-set ears	5	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0008544	Abnormally folded helix	5	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0009909	Uplifted earlobe	5	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0000369	Low-set ears	5	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000598	HP:0008551	Microtia	5	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0000598	HP:0008593	Prominent antitragus	5	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000598	HP:0000391	Thickened helices	5	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0000598	HP:0008544	Abnormally folded helix	5	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0000598	HP:0000369	Low-set ears	5	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0000598	HP:0002265	Large fleshy ears	5	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000598	HP:0008544	Abnormally folded helix	5	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0008551	Microtia	5	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000598	HP:0011245	Abnormality of superior crus of antihelix	5	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000598	HP:0011271	Prominent tragus	5	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0000598	HP:0000369	Low-set ears	5	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0000598	HP:0002265	Large fleshy ears	5	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0000598	HP:0008544	Abnormally folded helix	5	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000598	HP:0000391	Thickened helices	5	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0000598	HP:0009909	Uplifted earlobe	5	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000598	HP:0000391	Thickened helices	5	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000598	HP:0000369	Low-set ears	5	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0000598	HP:0000369	Low-set ears	5	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000598	HP:0000369	Low-set ears	5	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000598	HP:0000391	Thickened helices	5	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0000598	HP:0000391	Thickened helices	5	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0009748	Large earlobe	5	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0000598	HP:0000391	Thickened helices	5	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0008551	Microtia	5	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional		162
HP:0000598	HP:0009748	Large earlobe	5	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.		162
HP:0000598	HP:0000369	Low-set ears	5	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0000598	HP:0000369	Low-set ears	5	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare		563
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.		3
HP:0000598	HP:0000369	Low-set ears	5	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.		3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000598	HP:0000369	Low-set ears	5	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000598	HP:0000369	Low-set ears	5	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0000598	HP:0000369	Low-set ears	5	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0000598	HP:0009902	Cleft helix	5	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent		82
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82
HP:0000598	HP:0000369	Low-set ears	5	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82
HP:0000598	HP:0008544	Abnormally folded helix	5	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0000598	HP:0008589	Hypoplastic helices	5	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0000598	HP:0009902	Cleft helix	5	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0000598	HP:0000369	Low-set ears	5	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000598	HP:0008551	Microtia	5	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.		759
HP:0000598	HP:0008551	Microtia	5	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0000598	HP:0000369	Low-set ears	5	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0000598	HP:0000369	Low-set ears	5	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0000598	HP:0009748	Large earlobe	5	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	5	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional		79
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000598	HP:0000369	Low-set ears	5	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000598	HP:0008504	Moderate sensorineural hearing impairment	5	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.		3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000598	HP:0000369	Low-set ears	5	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000598	HP:0008551	Microtia	5	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.		10
HP:0000598	HP:0000358	Posteriorly rotated ears	5	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000598	HP:0000358	Posteriorly rotated ears	5	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0000598	HP:0000369	Low-set ears	5	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000598	HP:0008551	Microtia	5	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000598	HP:0008551	Microtia	5	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent		2
HP:0000598	HP:0000369	Low-set ears	5	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent		1129
HP:0000598	HP:0000358	Posteriorly rotated ears	5	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0000598	HP:0000369	Low-set ears	5	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0000598	HP:0008551	Microtia	5	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0000598	HP:0008551	Microtia	5	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.		8
HP:0000598	HP:0009892	Anotia	5	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.		8
HP:0000598	HP:0008551	Microtia	5	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000598	HP:0011386	Narrow internal auditory canal	5	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000598	HP:0008551	Microtia	5	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.		38
HP:0000598	HP:0008551	Microtia	5	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0000598	HP:0011386	Narrow internal auditory canal	5	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0000598	HP:0005473	Fusion of middle ear ossicles	5	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0008551	Microtia	5	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2	.		31
HP:0000598	HP:0009892	Anotia	5	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000598	HP:0008551	Microtia	5	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0000598	HP:0011386	Narrow internal auditory canal	5	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0000598	HP:0000358	Posteriorly rotated ears	5	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0000598	HP:0000358	Posteriorly rotated ears	5	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000369	Low-set ears	5	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0000598	HP:0000369	Low-set ears	5	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0000598	HP:0000358	Posteriorly rotated ears	5	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		180
HP:0000598	HP:0000369	Low-set ears	5	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		180
HP:0000598	HP:0000358	Posteriorly rotated ears	5	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		33
HP:0000598	HP:0000369	Low-set ears	5	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		33
HP:0000598	HP:0000358	Posteriorly rotated ears	5	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		18
HP:0000598	HP:0000369	Low-set ears	5	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		18
HP:0000598	HP:0000369	Low-set ears	5	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000598	HP:0008551	Microtia	5	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0000598	HP:0000358	Posteriorly rotated ears	5	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		213
HP:0000598	HP:0000369	Low-set ears	5	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		213
HP:0000598	HP:0000369	Low-set ears	5	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000598	HP:0008551	Microtia	5	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0000598	HP:0000358	Posteriorly rotated ears	5	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		221
HP:0000598	HP:0000369	Low-set ears	5	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		221
HP:0000598	HP:0000369	Low-set ears	5	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0000598	HP:0000369	Low-set ears	5	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0000598	HP:0000369	Low-set ears	5	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000598	HP:0000410	Mixed hearing impairment	5	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2	.		40
HP:0000598	HP:0000410	Mixed hearing impairment	5	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0004458	Dilatated internal auditory canal	5	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0008628	Abnormality of the stapes	5	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0000598	HP:0004458	Dilatated internal auditory canal	5	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000598	HP:0008628	Abnormality of the stapes	5	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000598	HP:0000369	Low-set ears	5	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0000598	HP:0000369	Low-set ears	5	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0000598	HP:0000369	Low-set ears	5	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000598	HP:0000369	Low-set ears	5	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000598	HP:0000391	Thickened helices	5	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000598	HP:0008544	Abnormally folded helix	5	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000598	HP:0000369	Low-set ears	5	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000598	HP:0000369	Low-set ears	5	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000598	HP:0000369	Low-set ears	5	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000598	HP:0008544	Abnormally folded helix	5	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000598	HP:0000369	Low-set ears	5	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0000369	Low-set ears	5	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000598	HP:0008551	Microtia	5	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0000598	HP:0000369	Low-set ears	5	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0000598	HP:0000369	Low-set ears	5	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0000598	HP:0008610	Infantile sensorineural hearing impairment	5	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0000598	HP:0000369	Low-set ears	5	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000598	HP:0008551	Microtia	5	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000369	Low-set ears	5	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0008551	Microtia	5	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000369	Low-set ears	5	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional		42
HP:0000598	HP:0000369	Low-set ears	5	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		9
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		34
HP:0000598	HP:0040121	Abnormality of the acoustic reflex	5	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		159
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent		49
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	5	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0000598	HP:0000369	Low-set ears	5	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000598	HP:0000369	Low-set ears	5	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0000598	HP:0000369	Low-set ears	5	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0009908	Anterior creases of earlobe	5	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0000598	HP:0000369	Low-set ears	5	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0000598	HP:0100663	Synotia	5	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0000598	HP:0011386	Narrow internal auditory canal	5	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0000598	HP:0000369	Low-set ears	5	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0000598	HP:0100663	Synotia	5	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.		4
HP:0000598	HP:0000369	Low-set ears	5	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		81
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		81
HP:0000598	HP:0000369	Low-set ears	5	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.		27
HP:0000598	HP:0008551	Microtia	5	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0008607	Progressive conductive hearing impairment	5	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0008628	Abnormality of the stapes	5	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000598	HP:0000369	Low-set ears	5	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000598	HP:0000369	Low-set ears	5	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0000598	HP:0000369	Low-set ears	5	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948
HP:0000598	HP:0000369	Low-set ears	5	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0000598	HP:0011386	Narrow internal auditory canal	5	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0000598	HP:0000369	Low-set ears	5	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.		22
HP:0000598	HP:0000369	Low-set ears	5	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040281 - Very frequent		22
HP:0000598	HP:0000369	Low-set ears	5	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0000598	HP:0000369	Low-set ears	5	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0000369	Low-set ears	5	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0000391	Thickened helices	5	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		291
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000598	HP:0000369	Low-set ears	5	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0000598	HP:0000369	Low-set ears	5	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	5	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		291
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0000598	HP:0010722	Asymmetry of the ears	5	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0000598	HP:0000369	Low-set ears	5	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.		1
HP:0000598	HP:0000369	Low-set ears	5	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional		53
HP:0000598	HP:0000369	Low-set ears	5	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0000598	HP:0009904	Prominent ear helix	5	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0000598	HP:0000369	Low-set ears	5	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0000598	HP:0000369	Low-set ears	5	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent		11
HP:0000598	HP:0008544	Abnormally folded helix	5	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000598	HP:0000358	Posteriorly rotated ears	5	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0000598	HP:0000369	Low-set ears	5	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0000598	HP:0000369	Low-set ears	5	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0000598	HP:0000369	Low-set ears	5	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0000598	HP:0000369	Low-set ears	5	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0000598	HP:0000369	Low-set ears	5	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0000598	HP:0000369	Low-set ears	5	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0000598	HP:0000369	Low-set ears	5	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0000598	HP:0000369	Low-set ears	5	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0000598	HP:0000369	Low-set ears	5	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000598	HP:0008593	Prominent antitragus	5	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0000598	HP:0000369	Low-set ears	5	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0000598	HP:0010722	Asymmetry of the ears	5	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0000598	HP:0000369	Low-set ears	5	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000598	HP:0000369	Low-set ears	5	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.		3
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0000369	Low-set ears	5	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000598	HP:0000369	Low-set ears	5	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000598	HP:0008628	Abnormality of the stapes	5	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000598	HP:0000369	Low-set ears	5	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0000369	Low-set ears	5	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0000391	Thickened helices	5	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		212
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000598	HP:0000369	Low-set ears	5	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0000598	HP:0000391	Thickened helices	5	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0000598	HP:0000369	Low-set ears	5	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	5	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		212
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0000598	HP:0000369	Low-set ears	5	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000598	HP:0000369	Low-set ears	5	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000598	HP:0000369	Low-set ears	5	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		73
HP:0000598	HP:0000369	Low-set ears	5	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0000598	HP:0000369	Low-set ears	5	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0000369	Low-set ears	5	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0000391	Thickened helices	5	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000598	HP:0000369	Low-set ears	5	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent		365
HP:0000598	HP:0000391	Thickened helices	5	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040281 - Very frequent		365
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.		16
HP:0000598	HP:0000369	Low-set ears	5	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.		16
HP:0000598	HP:0000369	Low-set ears	5	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0000598	HP:0000395	Prominent antihelix	5	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0000395	Prominent antihelix	5	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.		16
HP:0000598	HP:0008551	Microtia	5	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.		16
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0000598	HP:0000369	Low-set ears	5	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0000598	HP:0000369	Low-set ears	5	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0009907	Attached earlobe	5	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		32
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	5	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24	.		97
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000598	HP:0000369	Low-set ears	5	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000598	HP:0000395	Prominent antihelix	5	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000598	HP:0008544	Abnormally folded helix	5	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000598	HP:0000369	Low-set ears	5	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		334
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0000369	Low-set ears	5	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000598	HP:0008551	Microtia	5	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0000369	Low-set ears	5	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000598	HP:0000369	Low-set ears	5	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000598	HP:0010532	Paroxysmal vertigo	5	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		572
HP:0000598	HP:0000369	Low-set ears	5	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		572
HP:0000598	HP:0010532	Paroxysmal vertigo	5	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		572
HP:0000598	HP:0008568	Vestibular areflexia	5	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0000598	HP:0008568	Vestibular areflexia	5	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		107
HP:0000598	HP:0008551	Microtia	5	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000598	HP:0000369	Low-set ears	5	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000598	HP:0008551	Microtia	5	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104	.		1
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0000598	HP:0000369	Low-set ears	5	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0000369	Low-set ears	5	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0000391	Thickened helices	5	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		39
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000598	HP:0000369	Low-set ears	5	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		47
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000598	HP:0000369	Low-set ears	5	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000598	HP:0000369	Low-set ears	5	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0000598	HP:0000369	Low-set ears	5	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.		33
HP:0000598	HP:0000369	Low-set ears	5	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0000598	HP:0000369	Low-set ears	5	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0000598	HP:0000369	Low-set ears	5	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0000598	HP:0000369	Low-set ears	5	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0000598	HP:0008551	Microtia	5	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0000598	HP:0000369	Low-set ears	5	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108			1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000598	HP:0000369	Low-set ears	5	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0000598	HP:0000369	Low-set ears	5	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0000598	HP:0000369	Low-set ears	5	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0000598	HP:0000369	Low-set ears	5	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		167
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0000598	HP:0000369	Low-set ears	5	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0000598	HP:0000369	Low-set ears	5	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0000598	HP:0011234	Absent antihelix	5	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000598	HP:0000369	Low-set ears	5	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0040080	Anteverted ears	5	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0000369	Low-set ears	5	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000598	HP:0008551	Microtia	5	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000598	HP:0000369	Low-set ears	5	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000598	HP:0008551	Microtia	5	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000598	HP:0000369	Low-set ears	5	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000598	HP:0008551	Microtia	5	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000598	HP:0000369	Low-set ears	5	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000598	HP:0008551	Microtia	5	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000598	HP:0000369	Low-set ears	5	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0008551	Microtia	5	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0000369	Low-set ears	5	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000598	HP:0008551	Microtia	5	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000598	HP:0000369	Low-set ears	5	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000598	HP:0008551	Microtia	5	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000598	HP:0000369	Low-set ears	5	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0000598	HP:0008551	Microtia	5	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0000598	HP:0000369	Low-set ears	5	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0000598	HP:0000369	Low-set ears	5	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0000598	HP:0008551	Microtia	5	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0000598	HP:0000369	Low-set ears	5	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0000598	HP:0008551	Microtia	5	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0000598	HP:0000369	Low-set ears	5	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000598	HP:0008551	Microtia	5	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000598	HP:0000369	Low-set ears	5	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0000598	HP:0008551	Microtia	5	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0000598	HP:0000369	Low-set ears	5	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0000598	HP:0008551	Microtia	5	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0000598	HP:0000369	Low-set ears	5	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0008551	Microtia	5	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0000369	Low-set ears	5	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0008544	Abnormally folded helix	5	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0000369	Low-set ears	5	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000598	HP:0008551	Microtia	5	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000598	HP:0000369	Low-set ears	5	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0000598	HP:0008551	Microtia	5	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0000598	HP:0000369	Low-set ears	5	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0000598	HP:0008551	Microtia	5	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0000598	HP:0000369	Low-set ears	5	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0008551	Microtia	5	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0000369	Low-set ears	5	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0008551	Microtia	5	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0000598	HP:0000410	Mixed hearing impairment	5	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0000598	HP:0008551	Microtia	5	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0000598	HP:0000369	Low-set ears	5	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000598	HP:0008551	Microtia	5	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000598	HP:0000369	Low-set ears	5	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0000598	HP:0008551	Microtia	5	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000369	Low-set ears	5	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000391	Thickened helices	5	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0000391	Thickened helices	5	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0008544	Abnormally folded helix	5	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000598	HP:0000369	Low-set ears	5	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0000598	HP:0008551	Microtia	5	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000369	Low-set ears	5	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000369	Low-set ears	5	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0000598	HP:0008551	Microtia	5	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000598	HP:0008551	Microtia	5	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000598	HP:0000369	Low-set ears	5	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0000369	Low-set ears	5	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0000598	HP:0009905	Thin ear helix	5	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000598	HP:0000369	Low-set ears	5	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000369	Low-set ears	5	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000369	Low-set ears	5	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0000598	HP:0008544	Abnormally folded helix	5	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000598	HP:0008551	Microtia	5	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent		124
HP:0000598	HP:0008544	Abnormally folded helix	5	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0008551	Microtia	5	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0000598	HP:0011235	Additional crus of antihelix	5	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0011386	Narrow internal auditory canal	5	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000598	HP:0008588	Slit-like opening of the exterior auditory meatus	5	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000598	HP:0000369	Low-set ears	5	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0000598	HP:0008610	Infantile sensorineural hearing impairment	5	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000598	HP:0000369	Low-set ears	5	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040282 - Frequent		34
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0000598	HP:0000369	Low-set ears	5	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0000598	HP:0000369	Low-set ears	5	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000369	Low-set ears	5	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000598	HP:0008544	Abnormally folded helix	5	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000598	HP:0010532	Paroxysmal vertigo	5	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0000598	HP:0000369	Low-set ears	5	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000598	HP:0008544	Abnormally folded helix	5	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000598	HP:0011235	Additional crus of antihelix	5	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000598	HP:0000369	Low-set ears	5	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0000598	HP:0000369	Low-set ears	5	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0000598	HP:0010532	Paroxysmal vertigo	5	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		304
HP:0000598	HP:0010532	Paroxysmal vertigo	5	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		55
HP:0000598	HP:0010532	Paroxysmal vertigo	5	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		237
HP:0000598	HP:0010532	Paroxysmal vertigo	5	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		237
HP:0000598	HP:0010532	Paroxysmal vertigo	5	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		147
HP:0000598	HP:0010532	Paroxysmal vertigo	5	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		129
HP:0000598	HP:0010532	Paroxysmal vertigo	5	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		129
HP:0000598	HP:0000369	Low-set ears	5	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0008544	Abnormally folded helix	5	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0000369	Low-set ears	5	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0008544	Abnormally folded helix	5	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0008551	Microtia	5	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		16
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0000598	HP:0000369	Low-set ears	5	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0000598	HP:0000369	Low-set ears	5	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0000598	HP:0000369	Low-set ears	5	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040283 - Occasional		143
HP:0000598	HP:0000369	Low-set ears	5	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0000598	HP:0000369	Low-set ears	5	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0000598	HP:0000369	Low-set ears	5	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent		143
HP:0000598	HP:0008610	Infantile sensorineural hearing impairment	5	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0000598	HP:0008628	Abnormality of the stapes	5	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0000598	HP:0009748	Large earlobe	5	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000598	HP:0000369	Low-set ears	5	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0008551	Microtia	5	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000598	HP:0000369	Low-set ears	5	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040282 - Frequent		43
HP:0000598	HP:0000369	Low-set ears	5	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000598	HP:0008551	Microtia	5	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0000598	HP:0009892	Anotia	5	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0000598	HP:0009913	Aplasia/Hypoplasia of the tragus	5	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0011270	Duplicated tragus	5	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0000598	HP:0000369	Low-set ears	5	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0000598	HP:0008551	Microtia	5	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040281 - Very frequent		49
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0000369	Low-set ears	5	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000598	HP:0008551	Microtia	5	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent		49
HP:0000598	HP:0000410	Mixed hearing impairment	5	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	HP:0040284 - Very rare
HP:0000598	HP:0000369	Low-set ears	5	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0000598	HP:0000369	Low-set ears	5	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000598	HP:0000369	Low-set ears	5	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000598	HP:0000369	Low-set ears	5	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000598	HP:0008551	Microtia	5	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000598	HP:0000369	Low-set ears	5	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional		40
HP:0000598	HP:0008551	Microtia	5	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional		40
HP:0000598	HP:0000391	Thickened helices	5	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0009909	Uplifted earlobe	5	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000598	HP:0008586	Hypoplasia of the cochlea	5	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0011388	Enlarged cochlear aqueduct	5	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	5	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0000598	HP:0000410	Mixed hearing impairment	5	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0004458	Dilatated internal auditory canal	5	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.		50
HP:0000598	HP:0008551	Microtia	5	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0008554	Cochlear malformation	5	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0008586	Hypoplasia of the cochlea	5	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.		50
HP:0000598	HP:0011387	Enlarged vestibular aqueduct	5	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	5	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent		2
HP:0000598	HP:0008586	Hypoplasia of the cochlea	5	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0011388	Enlarged cochlear aqueduct	5	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	5	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0000369	Low-set ears	5	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000598	HP:0008551	Microtia	5	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0000369	Low-set ears	5	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent		150
HP:0000598	HP:0000369	Low-set ears	5	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent		150
HP:0000598	HP:0000369	Low-set ears	5	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0000598	HP:0008551	Microtia	5	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0000598	HP:0011476	Profound sensorineural hearing impairment	5	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0000598	HP:0000369	Low-set ears	5	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0000598	HP:0000395	Prominent antihelix	5	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0000598	HP:0008544	Abnormally folded helix	5	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000598	HP:0011235	Additional crus of antihelix	5	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		2
HP:0000598	HP:0000369	Low-set ears	5	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000598	HP:0000369	Low-set ears	5	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000369	Low-set ears	5	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0000598	HP:0010532	Paroxysmal vertigo	5	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0000598	HP:0011261	Darwin tubercle of helix	5	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000598	HP:0000369	Low-set ears	5	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000598	HP:0000369	Low-set ears	5	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000598	HP:0000369	Low-set ears	5	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional		166
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0000598	HP:0000369	Low-set ears	5	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0000598	HP:0008544	Abnormally folded helix	5	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0000598	HP:0009748	Large earlobe	5	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent		166
HP:0000598	HP:0000369	Low-set ears	5	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional		166
HP:0000598	HP:0011387	Enlarged vestibular aqueduct	5	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct	.		274
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.		274
HP:0000598	HP:0008554	Cochlear malformation	5	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.		274
HP:0000598	HP:0008586	Hypoplasia of the cochlea	5	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		274
HP:0000598	HP:0011387	Enlarged vestibular aqueduct	5	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		274
HP:0000598	HP:0011395	Aplasia/Hypoplasia of the cochlea	5	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000598	HP:0008551	Microtia	5	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000598	HP:0000369	Low-set ears	5	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000598	HP:0000369	Low-set ears	5	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0000598	HP:0000369	Low-set ears	5	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0000598	HP:0000369	Low-set ears	5	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0000598	HP:0008544	Abnormally folded helix	5	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000598	HP:0000369	Low-set ears	5	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0000598	HP:0000369	Low-set ears	5	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0000598	HP:0000369	Low-set ears	5	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0000598	HP:0008551	Microtia	5	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000598	HP:0000369	Low-set ears	5	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000598	HP:0008551	Microtia	5	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000598	HP:0009909	Uplifted earlobe	5	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0000598	HP:0000369	Low-set ears	5	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0000369	Low-set ears	5	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000598	HP:0008544	Abnormally folded helix	5	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0000369	Low-set ears	5	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000598	HP:0009913	Aplasia/Hypoplasia of the tragus	5	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000598	HP:0000369	Low-set ears	5	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0000598	HP:0000369	Low-set ears	5	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.		2
HP:0000598	HP:0009907	Attached earlobe	5	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0000598	HP:0000369	Low-set ears	5	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0000598	HP:0000369	Low-set ears	5	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0000598	HP:0009748	Large earlobe	5	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000598	HP:0000369	Low-set ears	5	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0000598	HP:0000391	Thickened helices	5	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare		19
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0000598	HP:0010722	Asymmetry of the ears	5	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D	.		19
HP:0000598	HP:0000369	Low-set ears	5	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0000598	HP:0000369	Low-set ears	5	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0000598	HP:0000369	Low-set ears	5	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0000598	HP:0000369	Low-set ears	5	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000598	HP:0000369	Low-set ears	5	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	.		12
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0000369	Low-set ears	5	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0000391	Thickened helices	5	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		315
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000598	HP:0000369	Low-set ears	5	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000598	HP:0000391	Thickened helices	5	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0000369	Low-set ears	5	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0000391	Thickened helices	5	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		30
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000598	HP:0011379	Dilated vestibule of the inner ear	5	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0000598	HP:0000369	Low-set ears	5	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0000598	HP:0000369	Low-set ears	5	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.		11
HP:0000598	HP:0000369	Low-set ears	5	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.		11
HP:0000598	HP:0000369	Low-set ears	5	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0000598	HP:0000369	Low-set ears	5	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent		109
HP:0000598	HP:0000369	Low-set ears	5	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0000598	HP:0000369	Low-set ears	5	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional		66
HP:0000598	HP:0000369	Low-set ears	5	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0000369	Low-set ears	5	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000598	HP:0008551	Microtia	5	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000369	Low-set ears	5	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0009748	Large earlobe	5	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000598	HP:0000369	Low-set ears	5	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	HP:0040283 - Occasional		6
HP:0000598	HP:0000391	Thickened helices	5	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0000369	Low-set ears	5	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0008551	Microtia	5	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0000598	HP:0000369	Low-set ears	5	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000369	Low-set ears	5	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000391	Thickened helices	5	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0011380	Morphological abnormality of the semicircular canal	5	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000598	HP:0000369	Low-set ears	5	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		5
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		62
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.		138
HP:0000598	HP:0000369	Low-set ears	5	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000598	HP:0000369	Low-set ears	5	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0000598	HP:0008554	Cochlear malformation	5	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare		138
HP:0000598	HP:0000369	Low-set ears	5	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.		80
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000598	HP:0000369	Low-set ears	5	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000598	HP:0000369	Low-set ears	5	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0000598	HP:0000369	Low-set ears	5	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000369	Low-set ears	5	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0008551	Microtia	5	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000598	HP:0000369	Low-set ears	5	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0000598	HP:0008551	Microtia	5	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0000598	HP:0000369	Low-set ears	5	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000598	HP:0011245	Abnormality of superior crus of antihelix	5	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000598	HP:0000369	Low-set ears	5	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional		71
HP:0000598	HP:0000369	Low-set ears	5	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	HP:0040283 - Occasional		71
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility	.		78
HP:0000598	HP:0000358	Posteriorly rotated ears	5	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional		237
HP:0000598	HP:0008573	Low-frequency sensorineural hearing impairment	5	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0000598	HP:0000369	Low-set ears	5	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		124
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000598	HP:0000369	Low-set ears	5	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000598	HP:0000391	Thickened helices	5	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000598	HP:0000358	Posteriorly rotated ears	5	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76	.		21
HP:0000598	HP:0040080	Anteverted ears	5	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0000598	HP:0000369	Low-set ears	5	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0000598	HP:0000369	Low-set ears	5	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040282 - Frequent		11
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		6
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		34
HP:0000598	HP:0000369	Low-set ears	5	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000391	Thickened helices	5	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000598	HP:0000369	Low-set ears	5	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent		21
HP:0000598	HP:0000369	Low-set ears	5	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0000598	HP:0000369	Low-set ears	5	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000598	HP:0000369	Low-set ears	5	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000598	HP:0002265	Large fleshy ears	5	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	.		2
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		65
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000598	HP:0000369	Low-set ears	5	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0008544	Abnormally folded helix	5	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0000598	HP:0000369	Low-set ears	5	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0000598	HP:0000369	Low-set ears	5	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000598	HP:0000369	Low-set ears	5	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		271
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.		271
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.		52
HP:0000598	HP:0000369	Low-set ears	5	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.		52
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0000598	HP:0000369	Low-set ears	5	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		20
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.		22
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent		22
HP:0000598	HP:0002265	Large fleshy ears	5	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000598	HP:0009909	Uplifted earlobe	5	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent		22
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0000598	HP:0000369	Low-set ears	5	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		32
HP:0000598	HP:0008544	Abnormally folded helix	5	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000598	HP:0009908	Anterior creases of earlobe	5	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0000598	HP:0000369	Low-set ears	5	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0000598	HP:0008551	Microtia	5	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0000598	HP:0011266	Microtia, first degree	5	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0000598	HP:0000369	Low-set ears	5	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040281 - Very frequent		5
HP:0000598	HP:0000369	Low-set ears	5	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000598	HP:0008544	Abnormally folded helix	5	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0000598	HP:0000369	Low-set ears	5	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0000598	HP:0008544	Abnormally folded helix	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000598	HP:0011244	Abnormality of stem of antihelix	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000598	HP:0000391	Thickened helices	5	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000598	HP:0000391	Thickened helices	5	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0000598	HP:0008551	Microtia	5	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000598	HP:0008551	Microtia	5	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0000598	HP:0011386	Narrow internal auditory canal	5	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0000598	HP:0000369	Low-set ears	5	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		45
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0000369	Low-set ears	5	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0000369	Low-set ears	5	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		76
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0000598	HP:0000369	Low-set ears	5	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0000598	HP:0000369	Low-set ears	5	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8	.		76
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0000598	HP:0000369	Low-set ears	5	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0000598	HP:0000369	Low-set ears	5	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.		31
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0000598	HP:0000369	Low-set ears	5	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0000598	HP:0008551	Microtia	5	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000598	HP:0011267	Microtia, third degree	5	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000598	HP:0000369	Low-set ears	5	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000598	HP:0008513	Bilateral conductive hearing impairment	5	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0000598	HP:0000369	Low-set ears	5	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000598	HP:0000369	Low-set ears	5	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000598	HP:0000369	Low-set ears	5	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000598	HP:0005473	Fusion of middle ear ossicles	5	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000598	HP:0008544	Abnormally folded helix	5	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0008551	Microtia	5	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000598	HP:0008589	Hypoplastic helices	5	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000598	HP:0000369	Low-set ears	5	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.		104
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0000598	HP:0000369	Low-set ears	5	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0000598	HP:0000369	Low-set ears	5	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0000598	HP:0008544	Abnormally folded helix	5	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000598	HP:0000369	Low-set ears	5	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	5	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000598	HP:0008596	Postlingual sensorineural hearing impairment	5	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0000598	HP:0008596	Postlingual sensorineural hearing impairment	5	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0008610	Infantile sensorineural hearing impairment	5	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	5	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0000598	HP:0011474	Childhood onset sensorineural hearing impairment	5	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0000598	HP:0000369	Low-set ears	5	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0000598	HP:0000369	Low-set ears	5	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0000598	HP:0000369	Low-set ears	5	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0000598	HP:0000369	Low-set ears	5	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.		4
HP:0000598	HP:0010532	Paroxysmal vertigo	5	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		131
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000598	HP:0000369	Low-set ears	5	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000598	HP:0000369	Low-set ears	5	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0000598	HP:0000369	Low-set ears	5	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0000598	HP:0000369	Low-set ears	5	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000598	HP:0000369	Low-set ears	5	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0000369	Low-set ears	5	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000598	HP:0000369	Low-set ears	5	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000598	HP:0000369	Low-set ears	5	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000598	HP:0000369	Low-set ears	5	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0000598	HP:0000369	Low-set ears	5	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0000598	HP:0000369	Low-set ears	5	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent		33
HP:0000598	HP:0000369	Low-set ears	5	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		82
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0000598	HP:0000369	Low-set ears	5	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000598	HP:0000369	Low-set ears	5	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0000598	HP:0000369	Low-set ears	5	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0000598	HP:0000369	Low-set ears	5	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0000598	HP:0000369	Low-set ears	5	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		166
HP:0000598	HP:0000369	Low-set ears	5	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		166
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0000598	HP:0000369	Low-set ears	5	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0000598	HP:0000369	Low-set ears	5	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0000598	HP:0000369	Low-set ears	5	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040281 - Very frequent		63
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000598	HP:0000369	Low-set ears	5	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0000598	HP:0008544	Abnormally folded helix	5	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000598	HP:0009748	Large earlobe	5	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000598	HP:0008513	Bilateral conductive hearing impairment	5	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0000598	HP:0002265	Large fleshy ears	5	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000598	HP:0000369	Low-set ears	5	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000598	HP:0000369	Low-set ears	5	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000598	HP:0000369	Low-set ears	5	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000598	HP:0000369	Low-set ears	5	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000598	HP:0000395	Prominent antihelix	5	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	5	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0008551	Microtia	5	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.		140
HP:0000598	HP:0000369	Low-set ears	5	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0000598	HP:0000369	Low-set ears	5	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		108
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	5	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0009748	Large earlobe	5	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79	.		32
HP:0000598	HP:0000369	Low-set ears	5	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0000598	HP:0002265	Large fleshy ears	5	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0000598	HP:0000369	Low-set ears	5	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0000598	HP:0000369	Low-set ears	5	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0000598	HP:0008544	Abnormally folded helix	5	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	5	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28	.		154
HP:0000598	HP:0000369	Low-set ears	5	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0000598	HP:0000369	Low-set ears	5	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000598	HP:0009748	Large earlobe	5	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0000598	HP:0000369	Low-set ears	5	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0000598	HP:0000369	Low-set ears	5	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000598	HP:0000369	Low-set ears	5	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0000598	HP:0000369	Low-set ears	5	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0000598	HP:0000369	Low-set ears	5	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0000598	HP:0000369	Low-set ears	5	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0008551	Microtia	5	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000598	HP:0008551	Microtia	5	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	.		1
HP:0000598	HP:0000369	Low-set ears	5	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000598	HP:0000369	Low-set ears	5	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0000598	HP:0000369	Low-set ears	5	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0000598	HP:0040080	Anteverted ears	5	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		106
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0000598	HP:0000369	Low-set ears	5	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.		14
HP:0000598	HP:0000369	Low-set ears	5	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.		14
HP:0000598	HP:0000369	Low-set ears	5	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000598	HP:0000369	Low-set ears	5	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.		18
HP:0000598	HP:0000369	Low-set ears	5	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0000598	HP:0008551	Microtia	5	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.		18
HP:0000598	HP:0008551	Microtia	5	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		18
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000598	HP:0011386	Narrow internal auditory canal	5	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		18
HP:0000598	HP:0000369	Low-set ears	5	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0000598	HP:0008544	Abnormally folded helix	5	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000598	HP:0008551	Microtia	5	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0000598	HP:0008551	Microtia	5	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent		7
HP:0000598	HP:0000369	Low-set ears	5	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0008551	Microtia	5	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0011266	Microtia, first degree	5	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0011267	Microtia, third degree	5	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.		7
HP:0000598	HP:0000369	Low-set ears	5	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.		7
HP:0000598	HP:0008551	Microtia	5	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0011266	Microtia, first degree	5	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0000598	HP:0000369	Low-set ears	5	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0000598	HP:0000369	Low-set ears	5	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0000598	HP:0000369	Low-set ears	5	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000598	HP:0000369	Low-set ears	5	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000598	HP:0000358	Posteriorly rotated ears	5	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0000369	Low-set ears	5	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000598	HP:0008551	Microtia	5	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000369	Low-set ears	5	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0000598	HP:0000369	Low-set ears	5	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0008544	Abnormally folded helix	5	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000598	HP:0009748	Large earlobe	5	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000598	HP:0000369	Low-set ears	5	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000598	HP:0000358	Posteriorly rotated ears	5	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0000598	HP:0000369	Low-set ears	5	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0000598	HP:0000358	Posteriorly rotated ears	5	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.		23
HP:0000598	HP:0000369	Low-set ears	5	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.		23
HP:0000598	HP:0000358	Posteriorly rotated ears	5	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000598	HP:0000369	Low-set ears	5	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000598	HP:0000369	Low-set ears	5	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		33
HP:0000598	HP:0008555	Absent vestibular function	5	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.		173
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC	.		173
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA	.		777
HP:0000598	HP:0000369	Low-set ears	5	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0000598	HP:0000358	Posteriorly rotated ears	5	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0000598	HP:0000369	Low-set ears	5	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0000598	HP:0000358	Posteriorly rotated ears	5	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000598	HP:0000369	Low-set ears	5	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0000598	HP:0000369	Low-set ears	5	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000369	Low-set ears	5	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000598	HP:0000369	Low-set ears	5	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional		2
HP:0000598	HP:0000369	Low-set ears	5	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0000598	HP:0008513	Bilateral conductive hearing impairment	5	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		63
HP:0000598	HP:0010532	Paroxysmal vertigo	5	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		490
HP:0000598	HP:0010532	Paroxysmal vertigo	5	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		490
HP:0000598	HP:0000369	Low-set ears	5	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional		546
HP:0000598	HP:0000369	Low-set ears	5	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0000598	HP:0000358	Posteriorly rotated ears	5	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0000369	Low-set ears	5	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000598	HP:0008544	Abnormally folded helix	5	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000598	HP:0009748	Large earlobe	5	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0000598	HP:0008625	Severe sensorineural hearing impairment	5	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000598	HP:0000358	Posteriorly rotated ears	5	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000598	HP:0000358	Posteriorly rotated ears	5	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional		20
HP:0000598	HP:0000358	Posteriorly rotated ears	5	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0000598	HP:0000395	Prominent antihelix	5	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0000598	HP:0000369	Low-set ears	5	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0000598	HP:0000369	Low-set ears	5	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000598	HP:0000369	Low-set ears	5	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0000598	HP:0000369	Low-set ears	5	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0000598	HP:0000369	Low-set ears	5	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000598	HP:0000358	Posteriorly rotated ears	5	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0000598	HP:0000369	Low-set ears	5	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		10
HP:0000598	HP:0000369	Low-set ears	5	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0000598	HP:0000369	Low-set ears	5	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	5	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0009748	Large earlobe	5	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000598	HP:0100720	Hypoplasia of the ear cartilage	5	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		14
HP:0000598	HP:0000369	Low-set ears	5	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0000598	HP:0000408	Progressive sensorineural hearing impairment	5	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6	.		389
HP:0000598	HP:0008573	Low-frequency sensorineural hearing impairment	5	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6	.		389
HP:0000598	HP:0008527	Congenital sensorineural hearing impairment	5	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040282 - Frequent		389
HP:0000598	HP:0000369	Low-set ears	5	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.		12
HP:0000598	HP:0008551	Microtia	5	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent		12
HP:0000598	HP:0000369	Low-set ears	5	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.		4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0000598	HP:0000369	Low-set ears	5	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0000598	HP:0000358	Posteriorly rotated ears	5	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		98
HP:0000598	HP:0000369	Low-set ears	5	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0000598	HP:0000369	Low-set ears	5	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.		13
HP:0000598	HP:0000369	Low-set ears	5	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0000598	HP:0000358	Posteriorly rotated ears	5	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0000598	HP:0000369	Low-set ears	5	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0000598	HP:0000369	Low-set ears	5	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000391	Thickened helices	5	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000358	Posteriorly rotated ears	5	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0000598	HP:0000369	Low-set ears	5	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0000598	HP:0008619	Bilateral sensorineural hearing impairment	5	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000598	HP:0000369	Low-set ears	5	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040282 - Frequent		14
HP:0000598	HP:0000358	Posteriorly rotated ears	5	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.		7
HP:0000598	HP:0000358	Posteriorly rotated ears	5	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0000598	HP:0000369	Low-set ears	5	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0000598	HP:0000369	Low-set ears	5	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0000598	HP:0000369	Low-set ears	5	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent		16
HP:0000598	HP:0000369	Low-set ears	5	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0000598	HP:0005103	Calcification of the auricular cartilage	5	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0000598	HP:0005103	Calcification of the auricular cartilage	5	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000598	HP:0008541	Superiorly displaced ears	5	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0000598	HP:0000369	Low-set ears	5	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional		9
HP:0000598	HP:0000369	Low-set ears	5	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.		9
HP:0000598	HP:0000369	Low-set ears	5	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000598	HP:0000369	Low-set ears	5	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000598	HP:0000369	Low-set ears	5	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		10
HP:0000598	HP:0009748	Large earlobe	5	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.		362
HP:0000598	HP:0009909	Uplifted earlobe	5	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent		362
HP:0000598	HP:0009909	Uplifted earlobe	5	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent		362
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent		362
HP:0000598	HP:0009909	Uplifted earlobe	5	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent		362
HP:0000598	HP:0000369	Low-set ears	5	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0000598	HP:0000369	Low-set ears	5	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000598	HP:0009904	Prominent ear helix	5	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000598	HP:0001757	High-frequency sensorineural hearing impairment	5	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0000598	HP:0008573	Low-frequency sensorineural hearing impairment	5	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0000598	HP:0009904	Prominent ear helix	5	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0000598	HP:0000369	Low-set ears	5	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0000598	HP:0000369	Low-set ears	5	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0000369	Low-set ears	5	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0008551	Microtia	5	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0008544	Abnormally folded helix	5	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0000598	HP:0000369	Low-set ears	5	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0000598	HP:0000369	Low-set ears	5	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000598	HP:0009906	Aplasia/Hypoplasia of the earlobes	5	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000598	HP:0000369	Low-set ears	5	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000598	HP:0000369	Low-set ears	5	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0008544	Abnormally folded helix	5	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0008551	Microtia	5	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0009895	Abnormality of the crus of the helix	5	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0000358	Posteriorly rotated ears	5	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0000369	Low-set ears	5	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0040119	Unilateral conductive hearing impairment	5	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000598	HP:0009898	Underdeveloped crus of the helix	6	CL E G H
HP:0000598	HP:0011237	Broad inferior crus of antihelix	6	CL E G H
HP:0000598	HP:0011239	Underdeveloped inferior crus of antihelix	6	CL E G H
HP:0000598	HP:0011241	Serpiginous stem of antihelix	6	CL E G H
HP:0000598	HP:0011242	Underdeveloped stem of antihelix	6	CL E G H
HP:0000598	HP:0011256	Crus of helix connected to antihelix	6	CL E G H
HP:0000598	HP:0011257	Serpiginous crus of helix	6	CL E G H
HP:0000598	HP:0011258	Tragal bridge of crus of helix	6	CL E G H
HP:0000598	HP:0011259	Expanded terminal portion of crus of helix	6	CL E G H
HP:0000598	HP:0011260	Darwin notch of helix	6	CL E G H
HP:0000598	HP:0011383	Enlarged semicircular canal	6	CL E G H
HP:0000598	HP:0011393	Aplasia of the vestibular nerve.	6	CL E G H
HP:0000598	HP:0011394	Hypoplasia of the vestibular nerve	6	CL E G H
HP:0000598	HP:0011456	Absent stapes	6	CL E G H
HP:0000598	HP:0031000	Vestibular saccular degeneration	6	CL E G H
HP:0000598	HP:0031230	Decreased incisura length	6	CL E G H
HP:0000598	HP:0031231	Narrow incisura width	6	CL E G H
HP:0000598	HP:0031232	Increased incisura width	6	CL E G H
HP:0000598	HP:0040091	Asymmetry of the size of ears	6	CL E G H
HP:0000598	HP:0040092	Asymmetry of the shape of the ears	6	CL E G H
HP:0000598	HP:0040093	Asymmetry of the position of the ears	6	CL E G H
HP:0000598	HP:0040106	Morphological abnormality of the lateral semicircular canal	6	CL E G H
HP:0000598	HP:0040107	Morphological abnormality of the posterior semicircular canal	6	CL E G H
HP:0000598	HP:0040108	Morphological abnormality of the anterior semicircular canal	6	CL E G H
HP:0000598	HP:0040109	Morphological abnormality of the utricle	6	CL E G H
HP:0000598	HP:0040110	Morphological abnormality of the saccule	6	CL E G H
HP:0000598	HP:0040114	Absence of the reflex of the tensor tympani muscle	6	CL E G H
HP:0000598	HP:0040122	Impairment of the the acoustic reflex	6	CL E G H
HP:0000598	HP:0040123	Impairment of the reflex of the tensor tympani muscle	6	CL E G H
HP:0000598	HP:0200111	Absent stapes head	6	CL E G H
HP:0000598	HP:0000381	Stapes ankylosis	6	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0000598	HP:0000385	Small earlobe	6	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type	.		34
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent		34
HP:0000598	HP:0000396	Overfolded helix	6	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional		23
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44	.		2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0000396	Overfolded helix	6	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000598	HP:0000385	Small earlobe	6	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0000598	HP:0000385	Small earlobe	6	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		175
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.		5
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent		5
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0000598	HP:0000396	Overfolded helix	6	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0000598	HP:0000396	Overfolded helix	6	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent		219
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		29
HP:0000598	HP:0000385	Small earlobe	6	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000396	Overfolded helix	6	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional		145
HP:0000598	HP:0000396	Overfolded helix	6	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12	.		5
HP:0000598	HP:0000387	Absent earlobe	6	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		168
HP:0000598	HP:0000387	Absent earlobe	6	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent		38
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0000598	HP:0008569	Microtia, second degree	6	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0000598	HP:0008569	Microtia, second degree	6	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000598	HP:0000387	Absent earlobe	6	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.		29
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		28
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		34
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		114
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		118
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		71
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		97
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		87
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		25
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		66
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		119
HP:0000598	HP:0000396	Overfolded helix	6	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.		11
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		101
HP:0000598	HP:0000396	Overfolded helix	6	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0000598	HP:0000396	Overfolded helix	6	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000396	Overfolded helix	6	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000362	Otosclerosis	6	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		276
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent		27
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent		85
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		317
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		317
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		247
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		247
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent		83
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0000598	HP:0011267	Microtia, third degree	6	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0000598	HP:0011267	Microtia, third degree	6	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0000598	HP:0000385	Small earlobe	6	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12	.		636
HP:0000598	HP:0000396	Overfolded helix	6	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000598	HP:0011267	Microtia, third degree	6	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0000598	HP:0000387	Absent earlobe	6	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		20
HP:0000598	HP:0000387	Absent earlobe	6	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		161
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		7
HP:0000598	HP:0000387	Absent earlobe	6	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		146
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		342
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		342
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		342
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		90
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0000598	HP:0000396	Overfolded helix	6	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		515
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000598	HP:0011382	Hypoplasia of the semicircular canal	6	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		515
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0000598	HP:0000396	Overfolded helix	6	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000598	HP:0000396	Overfolded helix	6	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0008596	Postlingual sensorineural hearing impairment	6	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.		46
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent		52
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0000598	HP:0000362	Otosclerosis	6	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.		373
HP:0000598	HP:0000362	Otosclerosis	6	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.		373
HP:0000598	HP:0000362	Otosclerosis	6	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.		243
HP:0000598	HP:0000385	Small earlobe	6	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0000598	HP:0008577	Underfolded helix	6	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0000598	HP:0000387	Absent earlobe	6	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0000598	HP:0011373	Incomplete partition of the cochlea	6	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6			18
HP:0000598	HP:0000385	Small earlobe	6	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000396	Overfolded helix	6	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000396	Overfolded helix	6	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0000598	HP:0000387	Absent earlobe	6	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0000396	Overfolded helix	6	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0011238	Prominent inferior crus of antihelix	6	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0000598	HP:0000396	Overfolded helix	6	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		57
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		15
HP:0000598	HP:0000396	Overfolded helix	6	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000396	Overfolded helix	6	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.		2
HP:0000598	HP:0008586	Hypoplasia of the cochlea	6	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.		13
HP:0000598	HP:0000396	Overfolded helix	6	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent		72
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent		59
HP:0000598	HP:0008529	Absence of acoustic reflex	6	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1	.		8
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0000598	HP:0000385	Small earlobe	6	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0000396	Overfolded helix	6	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0000598	HP:0000396	Overfolded helix	6	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0000598	HP:0000396	Overfolded helix	6	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent		48
HP:0000598	HP:0011268	Absent tragus	6	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0000598	HP:0011272	Underdeveloped tragus	6	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0000598	HP:0000381	Stapes ankylosis	6	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0000598	HP:0000387	Absent earlobe	6	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent		36
HP:0000598	HP:0000387	Absent earlobe	6	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent		92
HP:0000598	HP:0000387	Absent earlobe	6	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		96
HP:0000598	HP:0008586	Hypoplasia of the cochlea	6	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0008586	Hypoplasia of the cochlea	6	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000598	HP:0008586	Hypoplasia of the cochlea	6	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.		135
HP:0000598	HP:0011373	Incomplete partition of the cochlea	6	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0000598	HP:0008586	Hypoplasia of the cochlea	6	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000598	HP:0000396	Overfolded helix	6	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0000598	HP:0011267	Microtia, third degree	6	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional		58
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent		62
HP:0000598	HP:0011266	Microtia, first degree	6	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.		18
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent		172
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.		175
HP:0000598	HP:0000396	Overfolded helix	6	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0000598	HP:0009899	Prominent crus of helix	6	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		175
HP:0000598	HP:0009899	Prominent crus of helix	6	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.		175
HP:0000598	HP:0009899	Prominent crus of helix	6	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		145
HP:0000598	HP:0000385	Small earlobe	6	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent		8
HP:0000598	HP:0011246	Underdeveloped superior crus of antihelix	6	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0000598	HP:0000385	Small earlobe	6	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0000598	HP:0008577	Underfolded helix	6	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0000598	HP:0008586	Hypoplasia of the cochlea	6	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		33
HP:0000598	HP:0000396	Overfolded helix	6	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040284 - Very rare		143
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent		353
HP:0000598	HP:0008559	Hypoplastic superior helix	6	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0000598	HP:0000396	Overfolded helix	6	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent		263
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0000598	HP:0000362	Otosclerosis	6	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4	.		64
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15			40
HP:0000598	HP:0000381	Stapes ankylosis	6	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2	.		199
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000598	HP:0000381	Stapes ankylosis	6	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2	.		56
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040282 - Frequent		45
HP:0000598	HP:0011272	Underdeveloped tragus	6	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	.		173
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent		270
HP:0000598	HP:0011267	Microtia, third degree	6	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000396	Overfolded helix	6	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0000598	HP:0008537	Cleft at the superior portion of the pinna	6	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0000598	HP:0008559	Hypoplastic superior helix	6	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0000598	HP:0000396	Overfolded helix	6	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040284 - Very rare		12
HP:0000598	HP:0000396	Overfolded helix	6	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000598	HP:0000385	Small earlobe	6	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		8
HP:0000598	HP:0000396	Overfolded helix	6	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		8
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0000598	HP:0011375	Cochlear aplasia	6	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent		80
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0011373	Incomplete partition of the cochlea	6	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		200
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		88
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		37
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		10
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39	.		39
HP:0000598	HP:0000385	Small earlobe	6	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0000396	Overfolded helix	6	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		3
HP:0000598	HP:0000387	Absent earlobe	6	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000598	HP:0000385	Small earlobe	6	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000598	HP:0000396	Overfolded helix	6	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0031229	Increased incisura length	6	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE			21
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional		25
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040283 - Occasional		113
HP:0000598	HP:0009899	Prominent crus of helix	6	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		345
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0000598	HP:0000396	Overfolded helix	6	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0000598	HP:0000396	Overfolded helix	6	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent		31
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0000598	HP:0000362	Otosclerosis	6	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0000598	HP:0000362	Otosclerosis	6	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		48
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0000598	HP:0000381	Stapes ankylosis	6	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0011455	Absent malleus	6	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		111
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional		3
HP:0000598	HP:0000385	Small earlobe	6	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000396	Overfolded helix	6	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000396	Overfolded helix	6	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.		283
HP:0000598	HP:0000385	Small earlobe	6	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0011272	Underdeveloped tragus	6	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		1
HP:0000598	HP:0008586	Hypoplasia of the cochlea	6	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		121
HP:0000598	HP:0000385	Small earlobe	6	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent		11
HP:0000598	HP:0000385	Small earlobe	6	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0000598	HP:0011272	Underdeveloped tragus	6	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0000598	HP:0011272	Underdeveloped tragus	6	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent		11
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0000598	HP:0000396	Overfolded helix	6	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent		167
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0000598	HP:0000387	Absent earlobe	6	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		196
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		196
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		13
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000396	Overfolded helix	6	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent		8
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		43
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		43
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		178
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0000598	HP:0000396	Overfolded helix	6	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49	.		61
HP:0000598	HP:0011266	Microtia, first degree	6	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		69
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		127
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		127
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		127
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0008529	Absence of acoustic reflex	6	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040282 - Frequent		150
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.		166
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		23
HP:0000598	HP:0000396	Overfolded helix	6	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		48
HP:0000598	HP:0000396	Overfolded helix	6	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0000598	HP:0008610	Infantile sensorineural hearing impairment	6	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent		96
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		1952
HP:0000598	HP:0000396	Overfolded helix	6	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		494
HP:0000598	HP:0000381	Stapes ankylosis	6	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0000598	HP:0000381	Stapes ankylosis	6	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	HP:0040281 - Very frequent	HP:0003577 - Congenital onset	22
HP:0000598	HP:0000381	Stapes ankylosis	6	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		85
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent		85
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		102
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		102
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0000598	HP:0009899	Prominent crus of helix	6	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0000598	HP:0011272	Underdeveloped tragus	6	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000598	HP:0000387	Absent earlobe	6	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0000598	HP:0011267	Microtia, third degree	6	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0000598	HP:0011373	Incomplete partition of the cochlea	6	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000598	HP:0011267	Microtia, third degree	6	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0000598	HP:0011267	Microtia, third degree	6	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0000598	HP:0008529	Absence of acoustic reflex	6	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9	.		383
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0000598	HP:0000387	Absent earlobe	6	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		531
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		169
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		75
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		4
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		65
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		66
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		46
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		59
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		62
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		82
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		106
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		47
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		99
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		98
HP:0000598	HP:0000396	Overfolded helix	6	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0000598	HP:0000396	Overfolded helix	6	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0000598	HP:0000396	Overfolded helix	6	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent		37
HP:0000598	HP:0000396	Overfolded helix	6	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000598	HP:0011247	Prominent superior crus of antihelix	6	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent		37
HP:0000598	HP:0000396	Overfolded helix	6	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0000598	HP:0000396	Overfolded helix	6	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0000598	HP:0008537	Cleft at the superior portion of the pinna	6	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82
HP:0000598	HP:0008559	Hypoplastic superior helix	6	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82
HP:0000598	HP:0000387	Absent earlobe	6	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		11
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional		103
HP:0000598	HP:0000385	Small earlobe	6	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000598	HP:0000387	Absent earlobe	6	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0000598	HP:0000387	Absent earlobe	6	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional		138
HP:0000598	HP:0000381	Stapes ankylosis	6	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2	.		40
HP:0000598	HP:0000381	Stapes ankylosis	6	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		9
HP:0000598	HP:0000396	Overfolded helix	6	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000598	HP:0000396	Overfolded helix	6	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		148
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0000598	HP:0008610	Infantile sensorineural hearing impairment	6	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0008529	Absence of acoustic reflex	6	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0000598	HP:0000362	Otosclerosis	6	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional		4
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		291
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		291
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		291
HP:0000598	HP:0000385	Small earlobe	6	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.		1
HP:0000598	HP:0000396	Overfolded helix	6	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		85
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent		90
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		90
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		25
HP:0000598	HP:0000381	Stapes ankylosis	6	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		212
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		212
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		212
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040283 - Occasional		150
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		3
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		3
HP:0000598	HP:0000387	Absent earlobe	6	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		68
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0000385	Small earlobe	6	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0000598	HP:0000396	Overfolded helix	6	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000598	HP:0008577	Underfolded helix	6	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		16
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104	.		1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		3
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		39
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		39
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040282 - Frequent		37
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		120
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		109
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent		167
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		167
HP:0000598	HP:0000396	Overfolded helix	6	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		1
HP:0000598	HP:0000385	Small earlobe	6	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000396	Overfolded helix	6	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0000598	HP:0000396	Overfolded helix	6	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent		124
HP:0000598	HP:0000396	Overfolded helix	6	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000598	HP:0100015	Stahl ear	6	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0000598	HP:0008610	Infantile sensorineural hearing impairment	6	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000385	Small earlobe	6	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000598	HP:0000396	Overfolded helix	6	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000598	HP:0008577	Underfolded helix	6	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		61
HP:0000598	HP:0000385	Small earlobe	6	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000396	Overfolded helix	6	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0000598	HP:0000396	Overfolded helix	6	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		16
HP:0000598	HP:0011382	Hypoplasia of the semicircular canal	6	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		16
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		6
HP:0000598	HP:0008610	Infantile sensorineural hearing impairment	6	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0000598	HP:0011272	Underdeveloped tragus	6	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040283 - Occasional		49
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		74
HP:0000598	HP:0008586	Hypoplasia of the cochlea	6	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		50
HP:0000598	HP:0008586	Hypoplasia of the cochlea	6	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.		50
HP:0000598	HP:0011373	Incomplete partition of the cochlea	6	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0000598	HP:0008586	Hypoplasia of the cochlea	6	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		10
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		150
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000598	HP:0100015	Stahl ear	6	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0000598	HP:0008577	Underfolded helix	6	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent		166
HP:0000598	HP:0000396	Overfolded helix	6	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent		166
HP:0000598	HP:0008586	Hypoplasia of the cochlea	6	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent		274
HP:0000598	HP:0000385	Small earlobe	6	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		55
HP:0000598	HP:0008577	Underfolded helix	6	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		135
HP:0000598	HP:0000396	Overfolded helix	6	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		91
HP:0000598	HP:0011268	Absent tragus	6	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0000598	HP:0000385	Small earlobe	6	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare		19
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		315
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		315
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		30
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		30
HP:0000598	HP:0011382	Hypoplasia of the semicircular canal	6	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0000598	HP:0011382	Hypoplasia of the semicircular canal	6	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.		136
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0011381	Aplasia of the semicircular canal	6	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0000598	HP:0009899	Prominent crus of helix	6	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000396	Overfolded helix	6	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		15
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent		52
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0000598	HP:0000385	Small earlobe	6	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		32
HP:0000598	HP:0000396	Overfolded helix	6	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		32
HP:0000598	HP:0011266	Microtia, first degree	6	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0000598	HP:0000396	Overfolded helix	6	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000598	HP:0000396	Overfolded helix	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000598	HP:0011240	Prominent stem of antihelix	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		45
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		76
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		31
HP:0000598	HP:0011255	Absent crus of helix	6	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional		31
HP:0000598	HP:0011267	Microtia, third degree	6	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent		12
HP:0000598	HP:0000396	Overfolded helix	6	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000598	HP:0008559	Hypoplastic superior helix	6	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040282 - Frequent		6
HP:0000598	HP:0000396	Overfolded helix	6	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000598	HP:0000399	Prelingual sensorineural hearing impairment	6	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0000598	HP:0008596	Postlingual sensorineural hearing impairment	6	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0000598	HP:0008596	Postlingual sensorineural hearing impairment	6	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000598	HP:0008610	Infantile sensorineural hearing impairment	6	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent		6
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		4
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		39
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		45
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		45
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		33
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		33
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		82
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent		82
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		82
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		166
HP:0000598	HP:0008577	Underfolded helix	6	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0000598	HP:0000387	Absent earlobe	6	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		108
HP:0000598	HP:0000396	Overfolded helix	6	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		171
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040283 - Occasional		214
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		41
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0000598	HP:0009899	Prominent crus of helix	6	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.		18
HP:0000598	HP:0009899	Prominent crus of helix	6	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		18
HP:0000598	HP:0000396	Overfolded helix	6	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0000598	HP:0011266	Microtia, first degree	6	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000598	HP:0011267	Microtia, third degree	6	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.		7
HP:0000598	HP:0011266	Microtia, first degree	6	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		2
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000385	Small earlobe	6	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000396	Overfolded helix	6	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent		135
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		23
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000598	HP:0000396	Overfolded helix	6	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		60
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent		14
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000598	HP:0000385	Small earlobe	6	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000598	HP:0000396	Overfolded helix	6	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0000598	HP:0000387	Absent earlobe	6	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000598	HP:0000368	Low-set, posteriorly rotated ears	6	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		49
HP:0000598	HP:0000396	Overfolded helix	6	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0009897	Horizontal crus of helix	6	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000598	HP:0011374	Incomplete partition of the cochlea type I	7	CL E G H
HP:0000598	HP:0004453	Overfolding of the superior helices	7	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000598	HP:0000376	Incomplete partition of the cochlea type II	7	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.		135
HP:0000598	HP:0004453	Overfolding of the superior helices	7	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0000598	HP:0004453	Overfolding of the superior helices	7	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0000598	HP:0000376	Incomplete partition of the cochlea type II	7	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0000598	HP:0007943	Congenital stapes ankylosis	7	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	HP:0040281 - Very frequent		22
HP:0000598	HP:0000376	Incomplete partition of the cochlea type II	7	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0000598	HP:0004453	Overfolding of the superior helices	7	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82
HP:0000598	HP:0004453	Overfolding of the superior helices	7	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0000598	HP:0000376	Incomplete partition of the cochlea type II	7	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.		50
HP:0000598	HP:0008583	Underfolded superior helices	7	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000598	HP:0008583	Underfolded superior helices	7	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122

Genes (2291) :A2ML1 AAAS AARS1 AASS ABCA12 ABCA4 ABCB6 ABCC1 ABCC6 ABCC8 ABCC9 ABCD1 ABHD12 ABHD5 ACAN ACBD5 ACER3 ACO2 ACOX1 ACP5 ACSL4 ACTA1 ACTB ACTC1 ACTG1 ACTG2 ACTN2 ACVR1 ACY1 ADA ADA2 ADAM17 ADAMTS18 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAR ADAT3 ADCY1 ADGRG1 ADGRG6 ADGRV1 ADK ADNP ADPRS ADSL AEBP1 AFF2 AFF3 AFF4 AGA AGBL5 AGO2 AGPAT2 AGRN AHDC1 AHI1 AHR AHSG AIFM1 AIP AIPL1 AIRE AK2 AKT1 ALAD ALDH18A1 ALDH1A2 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ALKBH8 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 ALX4 AMER1 AMMECR1 AMPD2 ANAPC1 ANAPC7 ANK1 ANKH ANKRD1 ANKRD11 ANO1 ANOS1 ANTXR1 ANTXR2 AP1B1 AP1G1 AP1S1 AP1S2 AP3B1 AP3D1 AP4E1 APC APC2 ARHGAP29 ARHGDIA ARHGEF18 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARNT2 ARSA ARSB ARSG ARSL ARVCF ARX ASAH1 ASCL1 ASH1L ASNS ASPA ASPM ASPRV1 ASXL1 ASXL2 ASXL3 ATG7 ATIC ATL1 ATL3 ATN1 ATP11A ATP1A2 ATP1A3 ATP2B1 ATP2B2 ATP6 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V0A4 ATP6V1A ATP6V1B1 ATP6V1B2 ATP6V1E1 ATP7A ATP8 ATP8B1 ATR ATRIP ATRX ATXN3 AUTS2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B4GAT1 B9D1 B9D2 BAG3 BAG5 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCL11A BCL11B BCL7B BCOR BCR BCS1L BDNF BDP1 BEAN1 BEST1 BHLHA9 BICD2 BICRA BIN1 BLM BLNK BLTP1 BMP1 BMP15 BMP2 BMP4 BMPER BMPR1A BNC1 BPNT2 BPTF BRAF BRCA1 BRCA2 BRCC3 BRD4 BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BSND BTD BTK BTRC BUB1 BUB1B BUB3 BUD23 C12ORF57 C1QBP C2CD3 C4A C4B C9ORF72 CA2 CA4 CABP2 CACNA1A CACNA1C CACNA1D CACNA1G CACNB4 CALM1 CALM2 CALM3 CAMK2G CAMKMT CAMTA1 CANT1 CAP2 CAPN15 CARMIL2 CARS1 CARS2 CASK CASQ2 CASZ1 CAT CATSPER2 CAV1 CBL CBY1 CC2D2A CCBE1 CCDC103 CCDC134 CCDC141 CCDC22 CCDC28B CCDC32 CCDC39 CCDC40 CCDC47 CCDC50 CCDC65 CCDC8 CCND1 CCNK CCNO CCNQ CCR1 CD109 CD151 CD164 CD19 CD247 CD3D CD3E CD3G CD4 CD79A CD79B CD81 CD96 CDC14A CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH1 CDH11 CDH2 CDH23 CDHR1 CDK10 CDK13 CDK5RAP2 CDK8 CDKN1C CDON CDT1 CEACAM16 CEACAM3 CEACAM6 CENPE CENPF CENPJ CEP104 CEP120 CEP152 CEP19 CEP250 CEP290 CEP41 CEP55 CEP57 CEP78 CERKL CERS3 CERT1 CFAP221 CFAP298 CFAP300 CFAP418 CFAP45 CFAP52 CFI CFTR CHAMP1 CHAT CHCHD10 CHD3 CHD4 CHD5 CHD7 CHD8 CHMP1A CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST14 CHST3 CHSY1 CHUK CIB2 CIITA CILK1 CISD2 CIT CLCA4 CLCF1 CLCN2 CLCN3 CLCN7 CLCNKA CLCNKB CLDN14 CLDN9 CLIC2 CLIC5 CLIP2 CLPP CLRN1 CLRN2 CLTC CNGA1 CNGB1 CNNM2 CNOT1 CNOT2 CNOT3 CNTNAP1 COA8 COCH COG1 COG5 COG7 COL11A1 COL11A2 COL13A1 COL1A1 COL1A2 COL27A1 COL2A1 COL3A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COMT COQ2 COQ6 COQ7 COQ8A COX1 COX10 COX15 COX16 COX2 COX3 COX7B CPE CPLANE1 CPLX1 CPOX CPT2 CR2 CRB1 CREB3L1 CREBBP CRKL CRLF1 CRPPA CRX CRYAB CRYM CSGALNACT1 CSNK2A1 CSPP1 CSRP3 CTBP1 CTC1 CTCF CTH CTLA4 CTNNB1 CTNND1 CTNND2 CTSA CTSD CTSK CTU2 CUL4B CUL7 CWC27 CXCR4 CYBA CYBB CYBC1 CYP11B1 CYP11B2 CYP4F22 CYP7B1 CYTB DAB1 DACT1 DAG1 DARS2 DBH DCAF17 DCC DCDC2 DCHS1 DCLRE1C DCPS DCTN4 DDB1 DDB2 DDR2 DDX11 DDX3X DDX59 DDX6 DEAF1 DENND5A DES DGCR2 DGCR6 DGCR8 DGUOK DHCR24 DHCR7 DHDDS DHODH DHPS DHX16 DHX30 DHX37 DHX38 DIABLO DIAPH1 DIAPH3 DIS3L2 DISP1 DKC1 DKK1 DLG1 DLK1 DLL1 DLL3 DLST DLX4 DLX5 DLX6 DMD DMP1 DMXL2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNAL1 DNASE1L3 DNM1L DNMT1 DNMT3A DNMT3B DOCK2 DOCK6 DOCK7 DOCK8 DOK7 DOLK DONSON DPAGT1 DPF2 DPH1 DPH2 DPP6 DPYD DPYSL5 DRC1 DSE DSG2 DSP DSPP DST DTYMK DUOX2 DUOXA2 DUSP6 DUX4 DVL1 DVL3 DYNC2LI1 DYRK1A DZIP1L EBF3 EBP ECE1 ECHS1 EDC3 EDEM3 EDN1 EDN3 EDNRA EDNRB EED EEF1A2 EFEMP2 EFL1 EFNB1 EFTUD2 EGFR EHMT1 EIF2S3 EIF3F EIF4A3 EIF4H EIF5A ELAC2 ELANE ELMO2 ELMOD3 ELN ELOVL1 EMC1 ENPP1 EP300 EPAS1 EPB41L1 EPG5 EPOR EPRS1 EPS15L1 EPS8 EPS8L2 ERAL1 ERAP1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERLIN2 ERMARD ESCO2 ESPN ESRP1 ESRRB ESS2 ETFA ETFB ETFDH EVC EVC2 EXOC2 EXOC6B EXOC7 EXOSC2 EXOSC8 EXOSC9 EXT1 EXT2 EYA1 EYA4 EYS EZH2 FAM149B1 FAM161A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAS FAT4 FBLN5 FBN1 FBN2 FBXL4 FBXO11 FBXW11 FBXW4 FBXW7 FCGR3A FDFT1 FDXR FEZF1 FGD1 FGF10 FGF14 FGF17 FGF20 FGF3 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FH FHL1 FHL2 FIBP FIG4 FIP1L1 FITM2 FKBP14 FKBP6 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLRT3 FMR1 FN1 FOCAD FOXC1 FOXF1 FOXG1 FOXH1 FOXI1 FOXJ1 FOXL2 FOXP1 FOXP2 FOXRED1 FRAS1 FREM1 FREM2 FRG1 FRMD4A FRMPD4 FSCN2 FSHR FTO FTSJ1 FUCA1 FUS FXN FZD2 FZD4 G6PC3 GAA GAB1 GABRD GAD1 GALC GALE GALK1 GALNS GALNT2 GAS1 GAS2L2 GAS8 GATA1 GATA2 GATA3 GATA4 GATAD1 GATB GATC GBA1 GBA2 GCDH GCGR GCH1 GCK GCLC GDF11 GDF3 GDF5 GDF6 GDNF GFER GFRA1 GGPS1 GIPC1 GIPC3 GJA1 GJA5 GJA8 GJB1 GJB2 GJB3 GJB4 GJB6 GJC2 GK GLA GLB1 GLE1 GLI2 GLI3 GLIS3 GLRA2 GLUL GLYCTK GMNN GMPPA GMPPB GNAI3 GNAQ GNAS GNB1 GNB2 GNE GNPTAB GNRH1 GNRHR GNS GON7 GP1BA GP1BB GPC3 GPC4 GPC6 GPKOW GPR101 GPRASP2 GPSM2 GPT2 GPX4 GRAP GRB10 GREB1L GRHL2 GRHL3 GRIA3 GRIA4 GRIK2 GRIP1 GRM1 GRM7 GRXCR1 GRXCR2 GSC GSDME GSN GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCA1B GUCY2D GUSB GYG1 GZF1 H19 H19-ICR H3-3A H3-3B H4C3 H4C5 H4C9 HAAO HACE1 HAND2 HARS1 HARS2 HAX1 HBA1 HBA2 HCCS HDAC4 HDAC6 HDAC8 HEATR3 HECW2 HELLS HEPHL1 HERC1 HES7 HESX1 HFE HGD HGF HGSNAT HHAT HIRA HIVEP2 HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMGA2 HMGB3 HMOX1 HMX1 HNF1B HNRNPH1 HNRNPK HOMER2 HOXA1 HOXA11 HOXA13 HOXA2 HOXB1 HOXD13 HRAS HS2ST1 HS6ST1 HS6ST2 HSD17B10 HSD17B4 HSPA9 HSPD1 HSPG2 HTRA2 HUWE1 HYAL1 HYDIN HYLS1 HYMAI IARS1 IARS2 ICOS IDH1 IDH3A IDH3B IDS IDUA IFIH1 IFNG IFNGR1 IFRD1 IFT122 IFT140 IFT172 IFT27 IFT52 IFT74 IFT81 IFT88 IGBP1 IGF1 IGF1R IGF2 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IL10 IL11RA IL12A IL12A-AS1 IL17RA IL17RD IL1RAPL1 IL21R IL23R IL2RB IL2RG IL6R IL6ST IL7R ILDR1 IMPDH1 IMPDH2 IMPG1 IMPG2 INPP5E INPPL1 INS INSR INTS1 INTU IPO8 IQCB1 IQSEC2 IREB2 IRF2BP2 IRF6 IRX5 ITCH ITGA2 ITGA2B ITGA3 ITGA6 ITGA8 ITGB3 ITGB4 ITGB6 ITM2B ITPR1 IYD JAG1 JAGN1 JAK2 JAK3 JMJD1C JUP KANSL1 KARS1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNAB2 KCNC3 KCNE1 KCNE5 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ16 KCNJ2 KCNJ5 KCNK4 KCNK9 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KCNQ4 KCTD1 KDM3B KDM4B KDM5B KDM5C KDM6A KDM6B KDSR KIAA0586 KIAA0753 KIAA1549 KIF11 KIF14 KIF15 KIF1A KIF1B KIF5A KIF7 KIFBP KISS1 KISS1R KIT KITLG KIZ KLF13 KLHL40 KLHL41 KLHL7 KLLN KLRC4 KMT2A KMT2B KMT2C KMT2D KMT5B KNSTRN KPTN KRAS KRT16 KRT17 KRT5 KRT6A KRT6B KYNU L2HGDH LAGE3 LAMA4 LAMB1 LARGE1 LARP7 LARS1 LARS2 LAS1L LBR LCA5 LDB3 LEMD3 LETM1 LFNG LGI4 LHFPL5 LHX1 LHX3 LHX4 LIFR LIG1 LIG3 LIG4 LIMK1 LIPN LIPT1 LMBRD1 LMBRD2 LMNA LMNB1 LMNB2 LMOD3 LMX1A LMX1B LONP1 LOXHD1 LOXL3 LRAT LRBA LRP12 LRP2 LRP4 LRP5 LRRC32 LRRC56 LRRC8A LRTOMT LSM11 LSS LTBP1 LUZP1 LZTFL1 LZTR1 MAB21L1 MACF1 MAD2L2 MADD MAF MAFB MAGEL2 MAGT1 MAK MAN1B1 MAN2B1 MAN2C1 MANBA MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS2 MARVELD2 MASP1 MAX MBD5 MBTPS1 MBTPS2 MCIDAS MCM2 MCM5 MCTP2 MDH2 MECOM MECP2 MED12 MED13L MED25 MED27 MEF2C MEFV MEG3 MEGF8 MEIS2 MEN1 MEOX1 MERTK MESD MESP2 MET METTL27 METTL5 MFN2 MGAT2 MGP MIA3 MICOS13 MID1 MID2 MIF MINPP1 MIR96 MITF MKKS MKS1 MLXIPL MMACHC MMP23B MN1 MNS1 MOGS MORC2 MPDU1 MPDZ MPEG1 MPL MPLKIP MPZ MPZL2 MRAS MRPL12 MRPS14 MRPS16 MRPS2 MRPS22 MRPS28 MRTFA MS4A1 MSL3 MSRB3 MSTO1 MSX1 MSX2 MTFMT MTHFD1 MTHFR MTRR MTSS2 MTX2 MUSK MVK MYBPC3 MYCN MYD88 MYH11 MYH14 MYH3 MYH6 MYH7 MYH9 MYL2 MYMK MYMX MYO15A MYO18B MYO3A MYO6 MYO7A MYO9A MYOD1 MYPN MYSM1 NAA10 NAA20 NABP1 NAGA NAGLU NALCN NANS NARS1 NARS2 NAXD NBN NCF1 NCF2 NCF4 NCKAP1L ND1 ND2 ND3 ND4 ND5 ND6 NDE1 NDNF NDP NDRG1 NDST1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECTIN1 NEDD4L NEFL NEK1 NEK10 NEK2 NEK9 NELFA NEU1 NEXMIF NEXN NF1 NF2 NFIA NFIX NFKB1 NFKB2 NGLY1 NHP2 NHS NIN NIPA1 NIPA2 NIPAL4 NIPBL NKAP NKX2-1 NKX2-5 NLRP12 NLRP3 NME5 NME8 NMNAT1 NOD2 NODAL NOG NOP10 NOP56 NOTCH2 NOTCH2NLC NOTCH3 NPHP1 NPM1 NPPA NR2E3 NR2F1 NR4A2 NR5A1 NRAS NRCAM NRL NRTN NSD1 NSD2 NSDHL NSMF NSRP1 NSUN2 NTNG2 NUBPL NUMA1 NUP107 NUP133 NUP188 NUP85 NUP88 NUS1 NXN OAT OBSL1 OCLN OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGDHL OGT OPA1 OPA3 OPHN1 ORC1 ORC4 ORC6 OSBPL2 OSGEP OSTM1 OTOA OTOF OTOG OTOGL OTUD5 OTUD6B OTX2 P2RX2 P4HA2 PACS1 PAFAH1B1 PAH PAICS PAK1 PAK3 PALB2 PAM16 PARN PAX1 PAX2 PAX3 PAX6 PAX7 PBX1 PCARE PCDH15 PCDHGC4 PCGF2 PCLO PCNA PCNT PCYT1A PDE1C PDE4D PDE6A PDE6B PDE6D PDE6G PDGFB PDGFRA PDGFRB PDHA1 PDK3 PDPN PDX1 PDZD7 PDZD8 PEPD PERP PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGM1 PGM3 PHACTR1 PHEX PHF6 PHGDH PHIP PHOX2B PHYH PI4KA PIBF1 PIEZO1 PIEZO2 PIGA PIGB PIGG PIGH PIGK PIGL PIGN PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PISD PITX1 PITX2 PJVK PKHD1 PLA2G6 PLAA PLAG1 PLAGL1 PLCB4 PLCG2 PLCH1 PLEC PLG PLK4 PLN PLOD1 PLOD3 PLP1 PLS1 PLVAP PLXNA1 PLXND1 PML PMM2 PMP22 PMPCB PNP PNPLA1 PNPLA2 PNPLA6 PNPLA8 PNPT1 POC1A POGZ POLA1 POLD1 POLE POLG POLG2 POLR1A POLR1B POLR1C POLR1D POLR3A POLR3GL POLR3H POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 POU3F3 POU3F4 POU4F1 POU4F3 PPCS PPFIBP1 PPIP5K2 PPM1B PPM1D PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R3C PPP2R5D PQBP1 PRCD PRDM16 PRDM5 PRDX1 PREPL PRF1 PRG4 PRIM1 PRKAR1A PRKAR1B PRKCD PRKCZ PRKDC PRKG2 PRMT7 PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRRT2 PRRX1 PRTN3 PRUNE1 PSAP PSAT1 PSEN1 PSEN2 PSMB1 PSMB8 PSMC1 PSMC3 PSMC3IP PSMD12 PTCD3 PTCH1 PTDSS1 PTEN PTF1A PTH1R PTPN11 PTPN22 PTPRF PTPRQ PTRH2 PUF60 PUM1 PURA PUS3 PUS7 PYCR1 PYCR2 QARS1 QRICH1 QRSL1 RAB11B RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAB5IF RAC1 RAC2 RAD21 RAD51 RAD51C RAF1 RAG1 RAG2 RAI1 RALA RALGAPA1 RAPSN RARA RARB RASA2 RB1 RBBP8 RBM10 RBM20 RBM8A RBMX RBP3 RD3 RDH11 RDH12 RDH5 RDX RECQL4 REEP6 RELB RELN RERE REST RET REV3L RFC1 RFC2 RFT1 RFWD3 RFX5 RFXANK RFXAP RGR RHO RHOBTB2 RIC1 RIPK4 RIPOR2 RIPPLY2 RIT1 RLBP1 RMND1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF13 RNF135 RNF168 RNF2 RNF220 RNR1 RNU4ATAC RNU7-1 ROBO3 ROM1 ROR1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RSPRY1 RTEL1 RTL1 RTTN RUNX2 RUSC2 RXYLT1 RYR1 RYR2 S1PR2 SAG SALL1 SALL4 SAMHD1 SARDH SATB1 SATB2 SBDS SBF2 SC5D SCAPER SCARF2 SCD5 SCN1A SCN1B SCN2A SCN5A SCNM1 SCO2 SCYL2 SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SEC23B SEC24C SEC31A SELENOI SEM1 SEMA3A SEMA3C SEMA3D SEMA3E SEMA4A SEMA5A SEPTIN9 SERAC1 SERPINA1 SERPINB6 SET SETBP1 SETD1A SETD2 SETD5 SF3B2 SF3B4 SGCD SGMS2 SGPL1 SGSH SH2B1 SH2B3 SH3KBP1 SH3PXD2B SH3TC2 SHANK3 SHH SHOC2 SIAH1 SIM1 SIN3A SIN3B SIX1 SIX2 SIX3 SIX5 SIX6 SKI SKIC3 SLC10A7 SLC11A1 SLC12A2 SLC12A3 SLC12A6 SLC16A2 SLC17A8 SLC18A3 SLC19A2 SLC19A3 SLC1A3 SLC1A4 SLC25A1 SLC25A10 SLC25A11 SLC25A12 SLC25A24 SLC25A4 SLC26A2 SLC26A4 SLC26A5 SLC26A9 SLC29A3 SLC2A1 SLC2A10 SLC30A9 SLC33A1 SLC35A2 SLC35C1 SLC37A4 SLC39A14 SLC39A7 SLC39A8 SLC3A1 SLC44A4 SLC4A11 SLC52A2 SLC52A3 SLC5A5 SLC5A7 SLC6A14 SLC6A17 SLC6A8 SLC6A9 SLC7A14 SLC9A3 SLC9A6 SLITRK6 SLX4 SMAD2 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMG9 SMO SMOC1 SMPD4 SMPX SMS SNAI2 SNAP25 SNAP29 SNRNP200 SNRPB SNX10 SNX14 SOD1 SON SOS1 SOS2 SOST SOX10 SOX11 SOX2 SOX3 SOX4 SOX5 SOX6 SOX9 SP7 SPAG1 SPART SPATA5 SPATA5L1 SPATA7 SPECC1L SPEF2 SPEG SPEN SPG7 SPIDR SPINT2 SPNS2 SPOP SPRED1 SPRED2 SPRY4 SPTBN1 SPTBN4 SPTLC1 SPTLC2 SQSTM1 SRCAP SRD5A3 SREBF1 SRP54 SRP72 SRPX2 SRY SSR4 ST3GAL5 STAC3 STAG1 STAG2 STAMBP STAT3 STAT4 STAT5B STEEP1 STIL STK36 STRA6 STRC STT3A STUB1 STX11 STX1A STXBP1 STXBP2 SUCLA2 SUCLG1 SUFU SULT2B1 SUMF1 SUOX SUPT16H SURF1 SUZ12 SYK SYNE1 SYNE4 SYNGAP1 SYT2 TAB2 TAC3 TACO1 TACR3 TAF1 TAF1A TAFAZZIN TALDO1 TANGO2 TAOK1 TAP1 TAP2 TAPBP TAPT1 TARDBP TARS1 TASP1 TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBCK TBK1 TBL1XR1 TBL1Y TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TBX4 TCAP TCF12 TCF20 TCF3 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TECRL TECTA TELO2 TENM3 TERC TERT TET2 TET3 TFAP2A TFAP2B TFE3 TG TGDS TGFB1 TGFB3 TGIF1 TGM1 THOC2 THOC6 THPO THRB THUMPD1 TIMM8A TIMMDC1 TINF2 TK2 TKT TLK2 TLR4 TLR8 TMC1 TMCO1 TMEM107 TMEM126A TMEM126B TMEM127 TMEM132E TMEM138 TMEM147 TMEM165 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM38B TMEM43 TMEM53 TMEM67 TMEM70 TMEM94 TMIE TMPO TMPRSS3 TNC TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF13C TNFRSF1A TNFSF11 TNFSF12 TNNC1 TNNI2 TNNI3 TNNT2 TNNT3 TNPO2 TNRC6B TOE1 TOGARAM1 TOP3A TOPORS TOR1A TP53RK TP63 TP73 TPK1 TPM1 TPM2 TPM3 TPO TPP2 TPRKB TPRN TRAF7 TRAIP TRAPPC11 TRAPPC12 TRAPPC4 TRAPPC9 TRDN TREX1 TRIM32 TRIO TRIOBP TRIP11 TRIP12 TRIP13 TRMT1 TRMT10A TRMU TRNC TRNE TRNF TRNH TRNI TRNK TRNL1 TRNN TRNP TRNQ TRNS1 TRNS2 TRNT1 TRNV TRNW TRPM4 TRPS1 TRPV3 TRPV4 TRRAP TSC2 TSHZ1 TSPAN12 TSPEAR TSR2 TTC12 TTC19 TTC26 TTC5 TTC8 TTI2 TTN TTR TUB TUBA1A TUBB TUBB3 TUBB4A TUBB4B TUBG1 TUBGCP2 TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TWNK TXNDC15 TXNL4A TXNRD2 TYMP TYMS TYR UBA1 UBA2 UBAC2 UBB UBE2A UBE2T UBE3B UBE4B UBR1 UBR7 UFD1 UFM1 UGDH UGP2 UGT1A1 UMPS UNC119 UNC13D UNC45A UNC80 UPF3B UQCC2 USB1 USF3 USH1C USH1G USH2A USP45 USP53 USP7 USP9X VAC14 VAMP1 VANGL2 VARS1 VCL VCP VDR VHL VIPAS39 VPS11 VPS13B VPS33B VPS37A VPS37D VPS4A VPS51 VPS53 VSX1 WAC WARS2 WAS WASHC4 WASHC5 WBP11 WBP2 WDPCP WDR11 WDR19 WDR26 WDR35 WDR37 WDR4 WDR73 WFS1 WHRN WIPF1 WLS WNT10B WNT3 WNT4 WNT5A WNT7A WNT9B WRAP53 WT1 XPA XPC XPNPEP3 XRCC2 XRCC4 XYLT1 XYLT2 YAP1 YARS1 YME1L1 YWHAE YY1 ZBTB16 ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZEB2 ZFP57 ZIC1 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZMYND11 ZNF148 ZNF292 ZNF341 ZNF407 ZNF408 ZNF423 ZNF462 ZNF469 ZNF513 ZNF526 ZNF699 ZNF711 ZNHIT3 ZSWIM7

Diseases (2501) :OMIM:166760 ORPHA:869 OMIM:613287 OMIM:619691 ORPHA:2203 ORPHA:79394 ORPHA:457 ORPHA:313 ORPHA:791 ORPHA:241 OMIM:618915 ORPHA:51608 ORPHA:79134 ORPHA:99885 ORPHA:99886 ORPHA:154 OMIM:300100 ORPHA:388 ORPHA:139396 OMIM:612674 OMIM:275630 ORPHA:98907 ORPHA:171866 OMIM:612813 OMIM:618863 OMIM:617762 OMIM:614559 ORPHA:2971 OMIM:264470 OMIM:607944 ORPHA:86818 ORPHA:171433 ORPHA:171430 OMIM:243310 ORPHA:79107 OMIM:607371 OMIM:614583 OMIM:604717 ORPHA:2604 ORPHA:337 OMIM:135100 OMIM:609924 ORPHA:137754 ORPHA:277 ORPHA:124 ORPHA:820 OMIM:615688 OMIM:614328 ORPHA:294023 OMIM:615458 ORPHA:2136 ORPHA:521445 OMIM:231050 ORPHA:51 ORPHA:363528 OMIM:615286 OMIM:610154 ORPHA:98889 OMIM:616503 ORPHA:231178 OMIM:605472 OMIM:614300 ORPHA:404448 OMIM:615873 OMIM:618170 OMIM:103050 ORPHA:46 ORPHA:536532 OMIM:618000 ORPHA:100973 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:93 OMIM:619149 OMIM:608594 ORPHA:98914 ORPHA:412069 OMIM:615829 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:2850 OMIM:310490 OMIM:300614 OMIM:300232 ORPHA:101078 ORPHA:963 ORPHA:2965 ORPHA:65 OMIM:240300 ORPHA:33355 ORPHA:201 OMIM:615109 ORPHA:2495 ORPHA:744 ORPHA:100924 ORPHA:90348 ORPHA:447753 OMIM:616603 OMIM:219150 OMIM:620025 ORPHA:280071 OMIM:613661 ORPHA:79324 OMIM:607143 OMIM:300884 OMIM:607906 ORPHA:79321 OMIM:601110 ORPHA:79320 ORPHA:79325 OMIM:608104 ORPHA:79328 OMIM:608776 OMIM:263210 OMIM:618504 ORPHA:64 OMIM:203800 OMIM:613456 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:613451 ORPHA:228390 OMIM:300373 ORPHA:2780 OMIM:300990 OMIM:615809 OMIM:618625 OMIM:619699 ORPHA:251066 ORPHA:1522 OMIM:123000 ORPHA:261250 ORPHA:2332 OMIM:148050 OMIM:620045 ORPHA:478 OMIM:230740 ORPHA:2067 OMIM:228600 OMIM:242150 OMIM:619548 OMIM:609313 ORPHA:85335 OMIM:304340 ORPHA:85329 OMIM:608233 OMIM:617050 ORPHA:1000 OMIM:613744 ORPHA:3258 ORPHA:99818 ORPHA:821 ORPHA:199306 OMIM:615244 ORPHA:1465 OMIM:614607 ORPHA:251056 OMIM:135900 OMIM:617808 OMIM:618161 ORPHA:110 OMIM:209900 ORPHA:3157 ORPHA:309271 ORPHA:309263 ORPHA:309256 OMIM:253200 ORPHA:231183 OMIM:618144 ORPHA:79345 OMIM:302950 ORPHA:567 ORPHA:2508 OMIM:300004 OMIM:300215 OMIM:300419 ORPHA:2590 ORPHA:99803 OMIM:617796 OMIM:615574 OMIM:271900 OMIM:608716 OMIM:605039 ORPHA:97297 OMIM:617190 OMIM:615485 OMIM:619422 ORPHA:250977 OMIM:608688 ORPHA:36386 OMIM:618494 OMIM:619810 ORPHA:569 OMIM:602481 OMIM:601338 ORPHA:1171 OMIM:619910 OMIM:619804 OMIM:601386 ORPHA:255210 ORPHA:644 OMIM:300972 OMIM:301045 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 OMIM:602722 OMIM:617403 OMIM:267300 ORPHA:79499 OMIM:124480 ORPHA:79500 ORPHA:3473 OMIM:616455 OMIM:617402 ORPHA:480 OMIM:243300 ORPHA:808 OMIM:210600 ORPHA:847 OMIM:301040 OMIM:309580 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:352490 OMIM:615834 ORPHA:899 ORPHA:536467 ORPHA:2725 ORPHA:93359 OMIM:245600 ORPHA:709 OMIM:261540 ORPHA:79332 OMIM:130070 ORPHA:564 OMIM:614175 OMIM:619762 ORPHA:904 OMIM:300475 ORPHA:369939 OMIM:617101 OMIM:617237 ORPHA:520 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:2712 ORPHA:261330 ORPHA:123 OMIM:262000 ORPHA:53693 OMIM:124000 ORPHA:893 OMIM:618257 OMIM:117210 ORPHA:217012 ORPHA:3329 OMIM:618291 OMIM:619325 ORPHA:169186 ORPHA:125 OMIM:210900 OMIM:613502 ORPHA:33110 OMIM:617822 OMIM:614856 ORPHA:243 ORPHA:261295 OMIM:617877 ORPHA:139471 OMIM:607932 OMIM:608022 ORPHA:79076 OMIM:614078 ORPHA:529962 ORPHA:1340 OMIM:115150 ORPHA:54595 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:500 ORPHA:84 ORPHA:280679 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:617333 OMIM:300659 OMIM:269700 OMIM:602522 ORPHA:89938 ORPHA:79241 OMIM:253260 OMIM:300755 OMIM:307200 ORPHA:47 ORPHA:2440 ORPHA:1052 OMIM:257300 OMIM:218340 ORPHA:1777 OMIM:617713 ORPHA:434179 OMIM:615948 ORPHA:117 OMIM:614379 ORPHA:275872 ORPHA:2785 OMIM:614899 ORPHA:71518 OMIM:108500 ORPHA:97 OMIM:183086 OMIM:620029 ORPHA:369929 OMIM:614896 OMIM:618087 ORPHA:458803 OMIM:607682 ORPHA:211067 OMIM:613855 ORPHA:3286 OMIM:614916 OMIM:618522 ORPHA:163693 OMIM:614756 ORPHA:314647 ORPHA:1425 OMIM:619318 OMIM:618131 ORPHA:33364 ORPHA:477774 OMIM:616672 OMIM:300422 OMIM:300749 ORPHA:163937 ORPHA:1606 ORPHA:926 OMIM:611102 ORPHA:94064 OMIM:606721 ORPHA:648 OMIM:613563 ORPHA:1454 ORPHA:2318 OMIM:235510 ORPHA:244 OMIM:619795 ORPHA:7 OMIM:619123 OMIM:613807 OMIM:613808 OMIM:618268 OMIM:607453 OMIM:615504 ORPHA:2616 OMIM:614205 ORPHA:892 OMIM:193300 OMIM:618147 ORPHA:140952 OMIM:300707 ORPHA:853 OMIM:609057 OMIM:616969 ORPHA:1572 OMIM:240500 OMIM:613493 ORPHA:169160 OMIM:615617 OMIM:615615 OMIM:615607 OMIM:619238 OMIM:613501 OMIM:612692 ORPHA:1308 OMIM:211750 OMIM:608653 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:2554 OMIM:617063 OMIM:613805 ORPHA:2268 OMIM:616910 ORPHA:1997 ORPHA:1299 OMIM:211380 OMIM:619736 OMIM:618929 ORPHA:91347 ORPHA:231169 OMIM:601067 OMIM:617694 OMIM:617360 OMIM:604804 OMIM:618748 OMIM:130650 ORPHA:85173 OMIM:614732 ORPHA:397590 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:613804 OMIM:614614 OMIM:618410 ORPHA:586 OMIM:616051 OMIM:243605 OMIM:608393 OMIM:613676 OMIM:616300 OMIM:618358 OMIM:236500 OMIM:614114 OMIM:617236 OMIM:616351 OMIM:615500 OMIM:618063 OMIM:619608 OMIM:619607 OMIM:610984 OMIM:616579 OMIM:615911 OMIM:618205 OMIM:617159 OMIM:619873 OMIM:214800 ORPHA:138 OMIM:612370 ORPHA:432 OMIM:615032 OMIM:614961 ORPHA:233 OMIM:253290 OMIM:608930 ORPHA:199318 OMIM:612001 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2953 OMIM:143095 OMIM:605282 ORPHA:363417 OMIM:619339 OMIM:609439 OMIM:614869 ORPHA:572 OMIM:612651 ORPHA:3463 OMIM:604928 OMIM:617090 OMIM:610313 ORPHA:404 OMIM:619512 ORPHA:53 ORPHA:667 OMIM:613090 ORPHA:358 OMIM:614035 OMIM:619093 OMIM:300886 ORPHA:324410 OMIM:616042 OMIM:614129 OMIM:276902 OMIM:619174 OMIM:617854 OMIM:613882 OMIM:618500 ORPHA:556955 OMIM:618608 OMIM:618672 OMIM:618186 ORPHA:436271 OMIM:601369 OMIM:618094 ORPHA:263508 OMIM:611209 ORPHA:263487 OMIM:613612 OMIM:608779 ORPHA:440354 ORPHA:250984 OMIM:618533 ORPHA:2021 OMIM:228520 OMIM:154780 ORPHA:560 ORPHA:90654 OMIM:604841 ORPHA:166100 OMIM:601868 OMIM:609706 ORPHA:1427 OMIM:215150 OMIM:184840 OMIM:616720 OMIM:166200 OMIM:259420 OMIM:166220 ORPHA:230851 OMIM:615155 ORPHA:93296 OMIM:132450 OMIM:156550 ORPHA:485 ORPHA:166011 ORPHA:85166 OMIM:151210 ORPHA:93346 ORPHA:94068 OMIM:183900 ORPHA:93315 ORPHA:93316 OMIM:271700 ORPHA:1856 ORPHA:90653 OMIM:108300 OMIM:609508 OMIM:130050 ORPHA:286 OMIM:104200 OMIM:203780 OMIM:301050 ORPHA:1018 OMIM:300914 OMIM:130000 OMIM:254090 ORPHA:79409 OMIM:614134 OMIM:614284 OMIM:620022 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:607426 OMIM:614650 OMIM:616733 ORPHA:139485 ORPHA:550 OMIM:540000 OMIM:619046 ORPHA:255241 OMIM:619355 OMIM:300887 ORPHA:2556 OMIM:309801 OMIM:619326 ORPHA:2754 OMIM:277170 ORPHA:280 OMIM:194190 ORPHA:79273 OMIM:608836 OMIM:616229 OMIM:618332 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:272430 OMIM:614643 OMIM:616357 OMIM:617062 OMIM:615636 ORPHA:397715 ORPHA:1775 ORPHA:363611 OMIM:615502 ORPHA:212 ORPHA:900 ORPHA:891 ORPHA:404473 ORPHA:281 ORPHA:351 OMIM:256540 OMIM:610127 ORPHA:763 OMIM:618142 OMIM:300354 ORPHA:85293 ORPHA:166035 OMIM:250410 ORPHA:51636 ORPHA:379 ORPHA:403 ORPHA:100986 OMIM:270800 ORPHA:363710 ORPHA:857 OMIM:617466 ORPHA:137898 ORPHA:230 OMIM:241080 ORPHA:3464 ORPHA:2744 OMIM:610212 ORPHA:314679 OMIM:601390 ORPHA:275 OMIM:602450 OMIM:616459 OMIM:619426 ORPHA:910 OMIM:618175 OMIM:613398 OMIM:300958 ORPHA:457260 OMIM:174300 OMIM:618653 ORPHA:819 OMIM:617281 OMIM:192430 ORPHA:329314 OMIM:617070 ORPHA:35107 OMIM:602398 OMIM:270400 ORPHA:818 OMIM:613861 ORPHA:246 OMIM:263750 OMIM:618480 OMIM:618733 OMIM:617804 OMIM:618731 OMIM:614152 OMIM:124900 OMIM:609129 ORPHA:2849 OMIM:267000 ORPHA:268882 ORPHA:96334 ORPHA:96184 ORPHA:254531 ORPHA:254525 ORPHA:2311 ORPHA:29072 OMIM:616788 OMIM:183600 OMIM:220600 ORPHA:289176 OMIM:241520 OMIM:617605 OMIM:618663 OMIM:616113 ORPHA:453533 OMIM:613193 OMIM:614935 OMIM:612518 OMIM:606763 OMIM:614874 OMIM:617577 OMIM:611884 OMIM:608644 OMIM:244400 OMIM:612444 ORPHA:66634 OMIM:617052 ORPHA:811 OMIM:616192 ORPHA:445062 OMIM:614017 ORPHA:36412 ORPHA:98673 ORPHA:314404 OMIM:604121 OMIM:614116 ORPHA:276621 ORPHA:269 OMIM:242860 OMIM:616433 OMIM:614219 ORPHA:411986 OMIM:615859 ORPHA:217390 OMIM:243700 ORPHA:994 OMIM:251230 ORPHA:86309 OMIM:618027 ORPHA:459061 OMIM:616901 OMIM:620062 ORPHA:2514 ORPHA:293948 ORPHA:1675 OMIM:619435 OMIM:615294 OMIM:615539 ORPHA:158687 OMIM:605594 OMIM:614653 OMIM:619847 ORPHA:95716 OMIM:615269 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:617088 ORPHA:268261 ORPHA:464311 OMIM:614104 ORPHA:731 OMIM:617330 OMIM:302960 ORPHA:401973 OMIM:300960 ORPHA:35173 OMIM:613870 OMIM:616277 OMIM:616460 OMIM:619493 ORPHA:137888 OMIM:615706 OMIM:612798 OMIM:613265 ORPHA:897 OMIM:616367 OMIM:600501 ORPHA:895 OMIM:277580 OMIM:617561 ORPHA:3447 OMIM:616393 OMIM:614437 OMIM:617941 ORPHA:1520 OMIM:610536 ORPHA:79113 OMIM:610253 ORPHA:96147 ORPHA:261652 ORPHA:85282 OMIM:300148 OMIM:618295 OMIM:268305 OMIM:619376 OMIM:615440 ORPHA:2686 ORPHA:3019 OMIM:619500 OMIM:615429 OMIM:194050 OMIM:618527 ORPHA:480898 OMIM:618333 OMIM:613684 ORPHA:353284 OMIM:614257 ORPHA:1493 OMIM:242840 ORPHA:90042 OMIM:617951 OMIM:615974 OMIM:617637 OMIM:617565 OMIM:619465 OMIM:243180 OMIM:610758 ORPHA:90322 ORPHA:1466 OMIM:610756 OMIM:601675 OMIM:278730 ORPHA:220295 OMIM:610651 ORPHA:90321 OMIM:615272 OMIM:278760 OMIM:610965 OMIM:616570 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:278800 OMIM:216400 ORPHA:207 ORPHA:209951 ORPHA:280384 ORPHA:75857 ORPHA:3103 OMIM:268300 OMIM:609006 OMIM:618632 OMIM:618013 OMIM:608565 OMIM:231680 ORPHA:952 OMIM:193530 OMIM:619306 OMIM:619072 OMIM:617763 OMIM:616081 OMIM:618065 ORPHA:502 ORPHA:466926 ORPHA:107 ORPHA:52429 OMIM:602588 OMIM:113650 ORPHA:2792 OMIM:166780 OMIM:605362 OMIM:601316 ORPHA:217622 OMIM:277590 OMIM:618763 ORPHA:1832 OMIM:259775 OMIM:227650 OMIM:300514 ORPHA:3412 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:609053 OMIM:614083 ORPHA:438178 OMIM:616154 OMIM:614946 ORPHA:3437 OMIM:616006 OMIM:615546 ORPHA:284979 ORPHA:2462 ORPHA:2833 OMIM:608328 ORPHA:115 OMIM:121050 OMIM:615471 OMIM:618089 OMIM:618914 OMIM:620012 OMIM:615707 OMIM:618156 OMIM:617717 OMIM:305400 ORPHA:915 OMIM:149730 ORPHA:2363 OMIM:193003 ORPHA:1848 ORPHA:90024 OMIM:610706 ORPHA:2791 OMIM:612702 ORPHA:3237 OMIM:615465 ORPHA:2117 OMIM:147950 OMIM:166250 ORPHA:2645 ORPHA:93258 OMIM:207410 OMIM:101200 ORPHA:87 OMIM:123790 OMIM:614592 OMIM:123500 ORPHA:1555 ORPHA:313855 ORPHA:93259 ORPHA:93260 ORPHA:794 OMIM:101400 ORPHA:15 OMIM:100800 OMIM:616482 OMIM:610474 ORPHA:85164 ORPHA:93262 ORPHA:35099 OMIM:602849 ORPHA:53271 ORPHA:1860 ORPHA:93274 OMIM:300280 ORPHA:500095 OMIM:617107 ORPHA:208441 ORPHA:3472 OMIM:216340 OMIM:618635 OMIM:614557 ORPHA:300179 OMIM:236670 OMIM:610883 ORPHA:2308 ORPHA:370348 OMIM:300321 OMIM:305620 ORPHA:1826 OMIM:300048 ORPHA:2484 OMIM:309350 ORPHA:90650 ORPHA:90652 OMIM:311300 OMIM:304120 OMIM:300244 ORPHA:1190 OMIM:108720 OMIM:150250 ORPHA:503 OMIM:272460 OMIM:615271 OMIM:300624 ORPHA:908 OMIM:300623 ORPHA:449291 OMIM:619991 ORPHA:782 OMIM:602482 OMIM:265380 ORPHA:261144 OMIM:613454 OMIM:600791 OMIM:274600 ORPHA:705 OMIM:110100 ORPHA:572333 ORPHA:391372 ORPHA:209908 ORPHA:2609 ORPHA:2052 OMIM:219000 OMIM:608980 OMIM:158900 OMIM:616819 ORPHA:466688 OMIM:300983 OMIM:612938 OMIM:309549 OMIM:230000 ORPHA:349 ORPHA:95 OMIM:612541 ORPHA:308552 OMIM:232300 OMIM:605428 OMIM:619124 ORPHA:206436 OMIM:245200 OMIM:230350 ORPHA:79237 OMIM:253000 OMIM:618885 OMIM:618449 OMIM:616726 OMIM:190685 ORPHA:3226 OMIM:146255 ORPHA:2237 ORPHA:251071 OMIM:618838 OMIM:618839 ORPHA:85212 OMIM:608013 ORPHA:2072 ORPHA:352641 ORPHA:320391 OMIM:614409 ORPHA:25 OMIM:619290 ORPHA:98808 OMIM:619122 ORPHA:2345 ORPHA:3250 OMIM:118100 OMIM:617898 ORPHA:330054 OMIM:613076 OMIM:619518 ORPHA:98897 OMIM:601869 ORPHA:1010 OMIM:218400 ORPHA:317 OMIM:164200 ORPHA:2710 OMIM:257850 OMIM:612474 OMIM:302800 ORPHA:101075 OMIM:601544 OMIM:220290 OMIM:304400 OMIM:602540 OMIM:148210 ORPHA:494 OMIM:148350 ORPHA:477 OMIM:149200 ORPHA:2698 ORPHA:2202 OMIM:612644 OMIM:612643 OMIM:612645 ORPHA:189 ORPHA:320401 OMIM:613206 OMIM:307030 ORPHA:324 ORPHA:79255 OMIM:253010 OMIM:611890 ORPHA:1486 OMIM:610829 ORPHA:36 OMIM:146510 ORPHA:672 OMIM:174700 ORPHA:93322 OMIM:610199 OMIM:301076 OMIM:610015 OMIM:220120 ORPHA:941 OMIM:616835 OMIM:615510 OMIM:615350 OMIM:602483 ORPHA:3205 ORPHA:562 OMIM:174800 ORPHA:79443 ORPHA:488613 OMIM:616973 OMIM:619503 OMIM:269921 ORPHA:3166 OMIM:252500 ORPHA:576 OMIM:252940 OMIM:619603 ORPHA:373 OMIM:312870 OMIM:301026 ORPHA:2662 ORPHA:93329 ORPHA:2570 OMIM:301018 OMIM:604213 OMIM:616281 ORPHA:477673 OMIM:250220 OMIM:618456 ORPHA:96182 OMIM:619274 OMIM:608641 ORPHA:99772 ORPHA:364028 OMIM:617864 OMIM:619580 OMIM:617691 OMIM:618922 OMIM:613285 OMIM:615837 OMIM:602471 OMIM:600994 ORPHA:85448 OMIM:616943 OMIM:616395 OMIM:617988 OMIM:204000 OMIM:253220 ORPHA:263297 OMIM:617662 ORPHA:231140 OMIM:619720 OMIM:619721 OMIM:619758 OMIM:619950 OMIM:619951 OMIM:617660 OMIM:616756 ORPHA:464282 OMIM:614504 OMIM:614926 OMIM:610738 ORPHA:98791 ORPHA:1001 OMIM:600430 OMIM:619797 OMIM:300863 ORPHA:163966 OMIM:300882 ORPHA:3459 OMIM:620072 OMIM:617268 OMIM:261990 OMIM:617011 ORPHA:457359 ORPHA:226307 ORPHA:56 OMIM:608265 OMIM:252930 ORPHA:1422 OMIM:616977 OMIM:618547 ORPHA:397 OMIM:300915 OMIM:612109 ORPHA:261265 ORPHA:93111 OMIM:620083 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:616707 OMIM:601536 ORPHA:71289 OMIM:605432 ORPHA:2438 ORPHA:83463 OMIM:612290 OMIM:614744 ORPHA:887 OMIM:218040 ORPHA:3071 ORPHA:79414 OMIM:619194 OMIM:301025 ORPHA:391428 OMIM:300438 OMIM:261515 OMIM:233400 OMIM:616854 ORPHA:100994 OMIM:224410 ORPHA:1865 ORPHA:800 OMIM:255800 OMIM:617248 OMIM:309590 OMIM:601492 OMIM:608647 ORPHA:2189 OMIM:236680 ORPHA:96191 ORPHA:541423 OMIM:617093 ORPHA:436174 OMIM:616007 OMIM:607594 ORPHA:99646 ORPHA:217093 ORPHA:217085 OMIM:309900 ORPHA:93473 OMIM:607014 ORPHA:93476 ORPHA:93474 OMIM:613254 ORPHA:98771 OMIM:218330 OMIM:266920 OMIM:617102 OMIM:617895 ORPHA:52055 OMIM:300472 ORPHA:73272 OMIM:608747 OMIM:270450 OMIM:616489 ORPHA:183675 OMIM:601495 OMIM:613500 OMIM:618204 ORPHA:464 OMIM:614188 OMIM:613953 OMIM:615267 OMIM:300143 OMIM:615207 OMIM:618495 OMIM:312863 OMIM:618944 OMIM:618523 OMIM:619750 OMIM:608971 OMIM:609646 OMIM:213300 OMIM:258480 OMIM:246200 ORPHA:508 ORPHA:769 OMIM:618571 OMIM:617926 OMIM:617925 OMIM:619472 ORPHA:397933 OMIM:618451 ORPHA:199302 OMIM:611174 OMIM:613385 ORPHA:228426 OMIM:614748 OMIM:619817 OMIM:191830 ORPHA:158684 OMIM:117300 ORPHA:1065 OMIM:118450 OMIM:617992 OMIM:616022 OMIM:133100 ORPHA:71493 ORPHA:729 OMIM:600802 ORPHA:35078 ORPHA:34217 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:613641 OMIM:613916 OMIM:619196 OMIM:619147 OMIM:619103 OMIM:616268 ORPHA:457193 ORPHA:3047 OMIM:606170 ORPHA:85201 OMIM:603736 OMIM:618974 OMIM:616212 ORPHA:89844 ORPHA:37612 OMIM:160120 OMIM:605259 ORPHA:98768 ORPHA:90647 OMIM:612347 ORPHA:420561 OMIM:135500 OMIM:241200 ORPHA:199343 OMIM:612780 OMIM:619406 OMIM:170390 ORPHA:37553 ORPHA:251274 OMIM:618381 ORPHA:166108 OMIM:220400 OMIM:600101 OMIM:181270 ORPHA:2036 OMIM:618846 OMIM:619320 OMIM:618109 OMIM:300534 ORPHA:85279 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:618505 OMIM:616546 OMIM:619476 OMIM:619479 OMIM:152950 ORPHA:2526 OMIM:616258 OMIM:619981 ORPHA:261323 ORPHA:2836 ORPHA:100991 OMIM:200990 OMIM:607131 ORPHA:66629 OMIM:609460 OMIM:172800 ORPHA:2884 OMIM:619947 OMIM:616697 ORPHA:319182 OMIM:605130 OMIM:619934 OMIM:617788 ORPHA:221139 ORPHA:397612 OMIM:615278 OMIM:609942 ORPHA:3339 ORPHA:2309 OMIM:619599 ORPHA:79155 OMIM:617661 OMIM:236792 ORPHA:2065 OMIM:615191 ORPHA:319671 OMIM:615071 OMIM:615438 OMIM:615300 OMIM:215140 OMIM:169400 ORPHA:1306 OMIM:620089 OMIM:617468 OMIM:610265 OMIM:221750 ORPHA:231720 OMIM:601559 OMIM:619774 ORPHA:298 ORPHA:235 OMIM:277380 OMIM:619694 ORPHA:740 ORPHA:90153 ORPHA:1662 ORPHA:99027 ORPHA:79087 OMIM:601412 ORPHA:495818 OMIM:161200 ORPHA:1458 OMIM:600373 OMIM:613079 OMIM:614700 OMIM:164310 ORPHA:2143 OMIM:222448 ORPHA:3152 OMIM:614305 ORPHA:2790 ORPHA:3416 OMIM:144750 OMIM:607634 ORPHA:178377 OMIM:619074 OMIM:618254 OMIM:613506 OMIM:611451 OMIM:619451 OMIM:616564 OMIM:605275 OMIM:618479 OMIM:618325 OMIM:619004 ORPHA:1272 OMIM:601088 OMIM:617041 OMIM:615547 OMIM:300853 ORPHA:397941 OMIM:614202 OMIM:248500 ORPHA:309288 ORPHA:309282 OMIM:619775 ORPHA:118 OMIM:248510 OMIM:619808 OMIM:618918 ORPHA:638 OMIM:616890 ORPHA:488232 OMIM:157800 ORPHA:3238 OMIM:617137 OMIM:619087 OMIM:618443 OMIM:619869 ORPHA:2505 OMIM:616734 ORPHA:314603 OMIM:616430 OMIM:611390 OMIM:610153 OMIM:257920 OMIM:156200 OMIM:618392 ORPHA:85284 ORPHA:2273 OMIM:308205 ORPHA:659 OMIM:616968 OMIM:617564 ORPHA:1596 OMIM:616738 OMIM:300260 OMIM:300055 ORPHA:93932 OMIM:301068 OMIM:309520 ORPHA:776 OMIM:300895 OMIM:305450 ORPHA:369891 OMIM:616789 ORPHA:464738 OMIM:619286 OMIM:613443 OMIM:614976 ORPHA:261190 OMIM:600987 ORPHA:97279 OMIM:214300 OMIM:618644 OMIM:616705 OMIM:618665 ORPHA:99947 OMIM:617087 OMIM:609260 OMIM:601152 OMIM:212066 ORPHA:79329 OMIM:245150 ORPHA:85202 OMIM:619269 OMIM:618329 ORPHA:2745 OMIM:300000 OMIM:300928 ORPHA:284339 OMIM:619527 OMIM:613074 OMIM:617306 ORPHA:42665 OMIM:103500 OMIM:193510 OMIM:249000 ORPHA:79282 OMIM:277400 OMIM:618774 OMIM:618948 OMIM:606056 ORPHA:79330 ORPHA:466768 OMIM:616688 OMIM:619090 ORPHA:79323 OMIM:615219 OMIM:619223 OMIM:234050 ORPHA:101082 OMIM:607736 OMIM:618145 OMIM:618499 OMIM:618951 OMIM:618378 OMIM:610498 OMIM:617950 OMIM:611719 OMIM:618958 OMIM:618847 OMIM:301032 OMIM:613718 ORPHA:502423 OMIM:617675 OMIM:168550 OMIM:617780 ORPHA:563612 ORPHA:2169 OMIM:620086 OMIM:208150 OMIM:260920 OMIM:610377 ORPHA:29 OMIM:164280 ORPHA:391641 ORPHA:33226 OMIM:619351 OMIM:600652 OMIM:614369 ORPHA:397744 OMIM:193700 OMIM:178110 ORPHA:2053 ORPHA:1147 OMIM:603622 OMIM:155100 ORPHA:182050 OMIM:608758 OMIM:254940 OMIM:619941 OMIM:600316 OMIM:616549 OMIM:607101 OMIM:606346 OMIM:607821 OMIM:601317 OMIM:600060 OMIM:276900 OMIM:618975 OMIM:618116 ORPHA:508542 OMIM:300855 ORPHA:276432 OMIM:619717 ORPHA:79279 ORPHA:79280 OMIM:609242 OMIM:252920 OMIM:615419 ORPHA:371364 OMIM:610442 OMIM:619092 OMIM:616239 OMIM:618434 OMIM:618321 ORPHA:647 OMIM:251260 OMIM:618982 ORPHA:551 ORPHA:2177 OMIM:605013 ORPHA:649 OMIM:310600 ORPHA:99950 OMIM:601455 OMIM:616116 OMIM:618249 OMIM:618247 ORPHA:70474 OMIM:618237 OMIM:252010 OMIM:256030 OMIM:225060 ORPHA:3253 OMIM:617201 ORPHA:101085 OMIM:617882 ORPHA:2751 OMIM:618781 OMIM:617022 ORPHA:93400 ORPHA:93399 OMIM:256550 ORPHA:812 OMIM:300912 ORPHA:97685 ORPHA:363700 OMIM:601321 OMIM:193520 ORPHA:637 OMIM:101000 OMIM:613735 ORPHA:447980 ORPHA:561 OMIM:602535 ORPHA:293978 OMIM:615577 OMIM:615273 ORPHA:627 OMIM:302350 ORPHA:319675 OMIM:614851 ORPHA:261183 OMIM:122470 OMIM:301039 ORPHA:209905 OMIM:610978 ORPHA:871 OMIM:611762 ORPHA:1451 OMIM:607115 ORPHA:47045 OMIM:191900 ORPHA:575 OMIM:620032 OMIM:619260 OMIM:186580 OMIM:611377 OMIM:186500 OMIM:184460 OMIM:185800 OMIM:186570 OMIM:614153 ORPHA:276198 ORPHA:955 OMIM:102500 OMIM:619473 OMIM:130720 ORPHA:2789 ORPHA:220497 ORPHA:1344 OMIM:615722 ORPHA:401777 OMIM:613224 OMIM:619833 OMIM:117550 OMIM:619695 OMIM:300831 ORPHA:251383 OMIM:308050 OMIM:620001 OMIM:618718 OMIM:618804 OMIM:618393 OMIM:617082 ORPHA:1507 OMIM:618529 ORPHA:414 OMIM:612921 OMIM:251290 ORPHA:534 OMIM:615067 OMIM:615451 OMIM:616037 OMIM:619075 ORPHA:544488 OMIM:300804 OMIM:311200 ORPHA:2750 OMIM:300209 OMIM:619701 OMIM:300997 ORPHA:1215 OMIM:616896 OMIM:125250 OMIM:165300 OMIM:300486 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:616340 OMIM:617729 ORPHA:85179 OMIM:607039 OMIM:601071 OMIM:614945 OMIM:614944 OMIM:301056 ORPHA:505237 OMIM:617452 ORPHA:990 OMIM:608224 ORPHA:329224 OMIM:615009 ORPHA:217385 ORPHA:2209 OMIM:619859 OMIM:618158 OMIM:300558 OMIM:613320 OMIM:615560 OMIM:120330 ORPHA:1475 OMIM:122880 ORPHA:1529 ORPHA:894 ORPHA:896 OMIM:193500 OMIM:148820 OMIM:618578 OMIM:617641 OMIM:609533 OMIM:602083 OMIM:619880 OMIM:618371 OMIM:608027 ORPHA:438134 ORPHA:2637 OMIM:210720 OMIM:608940 OMIM:618140 ORPHA:950 ORPHA:439822 OMIM:615483 OMIM:601812 OMIM:300905 ORPHA:352675 OMIM:618003 OMIM:276901 OMIM:620021 ORPHA:742 ORPHA:3220 OMIM:234580 ORPHA:772 ORPHA:44 OMIM:214100 OMIM:601539 ORPHA:912 OMIM:614870 OMIM:614871 OMIM:614920 OMIM:614859 OMIM:266510 OMIM:614885 OMIM:614866 OMIM:614867 OMIM:614872 OMIM:614873 OMIM:617370 OMIM:214110 OMIM:202370 ORPHA:95433 OMIM:616617 OMIM:614863 OMIM:614879 OMIM:266500 ORPHA:773 OMIM:215100 OMIM:615802 OMIM:614207 ORPHA:247262 OMIM:614921 OMIM:615816 ORPHA:443811 OMIM:618298 ORPHA:89936 ORPHA:127 OMIM:301900 OMIM:256520 OMIM:617991 ORPHA:589905 OMIM:209880 OMIM:616843 OMIM:108145 ORPHA:1154 ORPHA:376 ORPHA:2461 OMIM:248700 OMIM:300868 OMIM:301072 OMIM:618580 OMIM:618010 OMIM:618879 ORPHA:3474 OMIM:280000 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:614749 OMIM:618548 OMIM:618143 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:239300 OMIM:616809 ORPHA:557003 OMIM:618440 OMIM:615108 ORPHA:276280 OMIM:602501 OMIM:619802 OMIM:269880 ORPHA:3163 OMIM:618889 OMIM:119800 OMIM:610220 OMIM:256600 OMIM:617527 ORPHA:521426 OMIM:614669 OMIM:614468 OMIM:619895 OMIM:612138 ORPHA:722 ORPHA:2518 ORPHA:1900 OMIM:612394 OMIM:312080 OMIM:618787 OMIM:618183 OMIM:619955 ORPHA:570 OMIM:212065 ORPHA:79318 OMIM:118300 ORPHA:90658 OMIM:118220 OMIM:617954 OMIM:613179 ORPHA:760 OMIM:610717 ORPHA:98908 ORPHA:565612 ORPHA:2377 OMIM:251950 ORPHA:319514 OMIM:614932 OMIM:614934 OMIM:608703 OMIM:614813 OMIM:616364 ORPHA:468678 OMIM:301030 ORPHA:163976 OMIM:615381 OMIM:618336 ORPHA:254892 ORPHA:254886 OMIM:603041 OMIM:613662 OMIM:157640 OMIM:258450 OMIM:607459 ORPHA:70595 OMIM:616462 OMIM:618939 ORPHA:861 OMIM:248390 OMIM:613717 ORPHA:3455 OMIM:264090 OMIM:619234 OMIM:619743 OMIM:615249 OMIM:201750 ORPHA:95699 ORPHA:2092 OMIM:305600 OMIM:618604 ORPHA:1435 OMIM:602459 OMIM:620024 OMIM:618422 OMIM:617450 ORPHA:2701 OMIM:617506 OMIM:618820 OMIM:616817 ORPHA:391408 OMIM:619383 OMIM:618419 ORPHA:457279 ORPHA:93946 OMIM:309500 ORPHA:93947 ORPHA:93945 ORPHA:93950 ORPHA:90354 OMIM:614170 ORPHA:540 ORPHA:2848 OMIM:620005 OMIM:101800 OMIM:619680 OMIM:615559 OMIM:615966 OMIM:619636 ORPHA:464288 OMIM:244200 OMIM:619737 ORPHA:52427 OMIM:301835 OMIM:311070 OMIM:304500 ORPHA:1187 OMIM:300661 ORPHA:411543 ORPHA:99014 ORPHA:423479 OMIM:619539 OMIM:202650 OMIM:617481 ORPHA:544469 OMIM:616038 OMIM:620038 OMIM:256040 OMIM:620071 OMIM:619354 OMIM:617516 OMIM:619057 OMIM:610828 ORPHA:77301 OMIM:151050 ORPHA:2658 ORPHA:109 OMIM:158350 OMIM:609069 ORPHA:65288 ORPHA:50945 OMIM:156400 OMIM:151100 OMIM:616001 OMIM:617663 OMIM:613391 ORPHA:456312 OMIM:616263 ORPHA:508488 ORPHA:508498 OMIM:617931 ORPHA:438216 ORPHA:314655 ORPHA:488627 OMIM:618342 OMIM:612940 OMIM:614438 OMIM:616420 ORPHA:481152 OMIM:615760 OMIM:617982 OMIM:618835 OMIM:617807 ORPHA:2510 OMIM:614222 OMIM:201000 ORPHA:1387 OMIM:619420 OMIM:600118 ORPHA:401830 OMIM:212720 OMIM:614225 OMIM:616994 OMIM:617751 ORPHA:500159 OMIM:618986 OMIM:614701 OMIM:611554 OMIM:611553 OMIM:601457 ORPHA:1713 ORPHA:477817 OMIM:182290 OMIM:619311 OMIM:618797 OMIM:618388 ORPHA:2470 ORPHA:1587 ORPHA:2886 OMIM:311900 ORPHA:3320 OMIM:300238 ORPHA:436245 OMIM:611022 OMIM:218600 ORPHA:1225 OMIM:266280 OMIM:268400 OMIM:617585 OMIM:616975 ORPHA:494344 OMIM:612431 ORPHA:504476 OMIM:614575 OMIM:612015 ORPHA:244310 OMIM:618004 OMIM:618761 OMIM:263650 OMIM:607017 OMIM:616515 OMIM:615355 OMIM:614922 ORPHA:175 ORPHA:329336 OMIM:610333 OMIM:612951 OMIM:618379 ORPHA:544503 ORPHA:137634 ORPHA:420741 OMIM:619460 OMIM:619688 ORPHA:2636 OMIM:210710 OMIM:616651 ORPHA:353298 OMIM:617654 OMIM:268310 OMIM:300455 OMIM:300998 ORPHA:459070 ORPHA:435938 OMIM:612562 OMIM:614900 OMIM:612528 OMIM:617412 OMIM:613309 OMIM:606164 OMIM:303600 ORPHA:192 OMIM:613077 OMIM:268315 OMIM:616481 OMIM:612650 OMIM:618021 ORPHA:3301 ORPHA:457395 OMIM:616723 ORPHA:468631 OMIM:119600 ORPHA:1452 OMIM:617773 ORPHA:466650 OMIM:619542 OMIM:610419 OMIM:107480 ORPHA:959 OMIM:607323 OMIM:147750 ORPHA:2307 ORPHA:3129 OMIM:619229 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:99956 OMIM:604563 OMIM:607330 ORPHA:46059 OMIM:600920 OMIM:619086 OMIM:618924 OMIM:620107 OMIM:618766 OMIM:615993 OMIM:619259 OMIM:601650 ORPHA:97286 OMIM:115310 OMIM:605373 OMIM:168000 OMIM:618651 OMIM:618768 OMIM:162100 OMIM:614739 OMIM:613453 OMIM:618106 ORPHA:436151 OMIM:616078 OMIM:269150 ORPHA:798 OMIM:619056 OMIM:616831 ORPHA:404440 OMIM:615761 OMIM:164210 OMIM:154400 ORPHA:1788 ORPHA:245 OMIM:126550 OMIM:617575 OMIM:252900 ORPHA:261197 OMIM:300310 ORPHA:137834 OMIM:249420 ORPHA:99949 OMIM:601596 ORPHA:48652 OMIM:606232 OMIM:607721 OMIM:619314 ORPHA:171829 ORPHA:94065 ORPHA:500166 OMIM:613406 OMIM:608389 OMIM:605192 ORPHA:488437 OMIM:610896 OMIM:206900 OMIM:182212 OMIM:222470 OMIM:618363 OMIM:619081 OMIM:619083 OMIM:619080 OMIM:263800 OMIM:218000 OMIM:300523 OMIM:605583 OMIM:249270 ORPHA:49827 ORPHA:209967 OMIM:612656 ORPHA:447997 OMIM:618972 OMIM:612949 OMIM:612289 ORPHA:2095 ORPHA:2963 OMIM:609283 ORPHA:56304 ORPHA:628 OMIM:222600 ORPHA:93307 OMIM:613865 ORPHA:1782 ORPHA:168569 OMIM:602782 ORPHA:168577 ORPHA:3342 OMIM:617595 OMIM:614482 ORPHA:356961 OMIM:266265 ORPHA:99843 OMIM:619525 OMIM:144755 OMIM:619693 OMIM:616721 ORPHA:468699 OMIM:617606 ORPHA:293603 ORPHA:1490 OMIM:217400 OMIM:614707 OMIM:211530 OMIM:616269 ORPHA:457212 OMIM:300352 OMIM:617301 ORPHA:85278 OMIM:300243 OMIM:221200 OMIM:613951 OMIM:619657 ORPHA:2588 OMIM:139210 OMIM:619293 ORPHA:2728 OMIM:601358 OMIM:614609 OMIM:614608 OMIM:618779 OMIM:617475 OMIM:301044 OMIM:610759 OMIM:603457 OMIM:158901 OMIM:619268 OMIM:619995 OMIM:616920 OMIM:206920 ORPHA:1106 OMIM:618622 OMIM:300066 OMIM:309583 ORPHA:3063 OMIM:608890 ORPHA:66631 OMIM:609528 OMIM:117650 ORPHA:1393 ORPHA:397709 OMIM:616354 OMIM:618598 ORPHA:500150 OMIM:617140 OMIM:610733 ORPHA:1513 OMIM:122860 OMIM:269500 OMIM:609136 ORPHA:163746 OMIM:611584 OMIM:613266 OMIM:615866 ORPHA:77298 OMIM:618506 OMIM:616803 OMIM:618971 ORPHA:140 OMIM:114290 OMIM:613849 OMIM:615505 ORPHA:101000 OMIM:616577 ORPHA:457351 OMIM:619615 ORPHA:1519 OMIM:619312 OMIM:607259 OMIM:270420 OMIM:618457 OMIM:618828 OMIM:618829 OMIM:611431 ORPHA:137605 OMIM:619745 OMIM:615266 OMIM:619475 OMIM:617519 OMIM:162400 OMIM:617145 OMIM:167250 OMIM:619595 ORPHA:2044 OMIM:136140 OMIM:612379 OMIM:614675 ORPHA:1772 OMIM:300934 ORPHA:370927 OMIM:609056 OMIM:255995 ORPHA:168572 ORPHA:502434 OMIM:301043 OMIM:301022 OMIM:614261 ORPHA:2314 OMIM:301013 OMIM:619436 OMIM:601186 OMIM:603720 OMIM:619714 ORPHA:412057 OMIM:613101 OMIM:612073 ORPHA:1933 ORPHA:17 OMIM:245400 ORPHA:585 OMIM:272200 OMIM:272300 OMIM:619480 OMIM:616684 OMIM:220110 OMIM:619381 ORPHA:319332 OMIM:615540 ORPHA:544254 OMIM:616040 ORPHA:228410 OMIM:300966 ORPHA:480907 OMIM:302060 OMIM:606003 OMIM:616878 ORPHA:480864 OMIM:619575 OMIM:604571 OMIM:616897 OMIM:618950 OMIM:617695 OMIM:616044 OMIM:614617 OMIM:220500 ORPHA:496641 OMIM:241410 ORPHA:2323 ORPHA:488632 OMIM:602342 ORPHA:487825 OMIM:400047 ORPHA:1617 ORPHA:1727 OMIM:188400 OMIM:260660 ORPHA:93333 OMIM:618223 ORPHA:921 OMIM:302905 ORPHA:261279 OMIM:618430 OMIM:616941 OMIM:619824 OMIM:610954 ORPHA:2896 OMIM:259700 OMIM:154500 OMIM:613885 OMIM:258860 ORPHA:2753 OMIM:601543 OMIM:603629 ORPHA:488642 OMIM:616954 OMIM:615145 OMIM:618798 ORPHA:1297 OMIM:113620 OMIM:169100 ORPHA:46627 OMIM:301066 OMIM:616145 ORPHA:1388 ORPHA:1328 OMIM:131300 OMIM:615582 OMIM:300957 ORPHA:457240 ORPHA:363444 OMIM:274300 OMIM:619989 ORPHA:52368 OMIM:304700 OMIM:618251 OMIM:613990 OMIM:609560 ORPHA:254875 ORPHA:488618 OMIM:618050 OMIM:301078 OMIM:606705 OMIM:600974 ORPHA:1394 OMIM:213980 OMIM:617563 OMIM:612989 OMIM:618481 OMIM:620075 OMIM:614727 OMIM:608091 ORPHA:2752 OMIM:614424 OMIM:617478 OMIM:615066 OMIM:619832 OMIM:619727 OMIM:602152 ORPHA:140976 OMIM:614052 ORPHA:1194 OMIM:618316 OMIM:600971 OMIM:601072 OMIM:615629 OMIM:174810 ORPHA:2801 OMIM:602080 OMIM:239000 ORPHA:32960 OMIM:601680 OMIM:619556 OMIM:619243 OMIM:614969 OMIM:619185 OMIM:618098 OMIM:618947 OMIM:617730 OMIM:106260 OMIM:604292 ORPHA:1896 ORPHA:69085 OMIM:129400 OMIM:619466 OMIM:614458 OMIM:108120 ORPHA:444463 OMIM:619220 OMIM:617731 OMIM:613307 OMIM:618164 OMIM:616777 OMIM:617669 OMIM:618741 ORPHA:352530 OMIM:617061 OMIM:609823 OMIM:200600 OMIM:617752 OMIM:617598 OMIM:618302 OMIM:580000 ORPHA:225 ORPHA:2596 OMIM:545000 ORPHA:1349 OMIM:616084 ORPHA:77258 OMIM:190350 OMIM:190351 OMIM:606071 ORPHA:2635 OMIM:618778 OMIM:618454 OMIM:607842 OMIM:614861 OMIM:300946 OMIM:615157 OMIM:619534 OMIM:619244 OMIM:615541 ORPHA:391307 OMIM:105210 OMIM:156610 ORPHA:300570 OMIM:612438 OMIM:617879 OMIM:618737 OMIM:617746 ORPHA:920 OMIM:200110 OMIM:209885 ORPHA:1231 ORPHA:1186 OMIM:271245 OMIM:609286 OMIM:619879 OMIM:608572 OMIM:301054 OMIM:619959 ORPHA:163956 OMIM:244450 OMIM:243800 ORPHA:2315 OMIM:619189 OMIM:617899 OMIM:618792 OMIM:618744 ORPHA:79234 ORPHA:30 OMIM:615518 OMIM:619377 OMIM:616801 OMIM:615824 OMIM:604173 OMIM:602092 OMIM:276904 OMIM:606943 OMIM:619658 ORPHA:500055 OMIM:616863 OMIM:300968 ORPHA:480880 OMIM:617802 OMIM:277440 OMIM:613404 OMIM:616683 ORPHA:466934 ORPHA:193 OMIM:620009 OMIM:208085 ORPHA:319199 OMIM:619273 OMIM:618606 OMIM:615851 OMIM:614195 OMIM:616708 ORPHA:284169 ORPHA:466950 ORPHA:572798 ORPHA:906 OMIM:301000 OMIM:615817 OMIM:220210 OMIM:619227 OMIM:617639 OMIM:614378 ORPHA:513456 OMIM:617616 OMIM:613610 OMIM:618652 OMIM:618346 OMIM:251300 OMIM:600965 OMIM:222300 ORPHA:411590 OMIM:614296 OMIM:607084 OMIM:611383 OMIM:619648 OMIM:273395 OMIM:611812 ORPHA:247768 ORPHA:2879 OMIM:276820 OMIM:278700 OMIM:613159 OMIM:616541 ORPHA:85194 OMIM:605822 ORPHA:1473 OMIM:619418 OMIM:617302 OMIM:617557 ORPHA:506358 ORPHA:36367 OMIM:612337 ORPHA:3042 OMIM:259050 OMIM:614069 OMIM:314580 OMIM:301041 OMIM:300799 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:616602 OMIM:609637 OMIM:306955 OMIM:618659 OMIM:275210 OMIM:619522 OMIM:615444 OMIM:616083 OMIM:617260 OMIM:619188 OMIM:618282 OMIM:619557 OMIM:618619 OMIM:229200 OMIM:619877 OMIM:619488 OMIM:300803

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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