Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis		130
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome		245
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome		90
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency		120
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2		123
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency		118
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability		59
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3		89
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis		75
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis		63
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9		21
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0000356	HP:0000356	Abnormality of the outer ear	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome		168
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0000356	HP:0000356	Abnormality of the outer ear	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0000356	HP:0000356	Abnormality of the outer ear	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0000356	HP:0000356	Abnormality of the outer ear	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0000356	HP:0000356	Abnormality of the outer ear	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome		38
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000356	HP:0000356	Abnormality of the outer ear	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000356	HP:0000356	Abnormality of the outer ear	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0000356	HP:0000356	Abnormality of the outer ear	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000356	HP:0000356	Abnormality of the outer ear	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0000356	HP:0000356	Abnormality of the outer ear	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0000356	HP:0000356	Abnormality of the outer ear	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0000356	HP:0000356	Abnormality of the outer ear	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant		46
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII		49
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome		13
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0000356	HP:0000356	Abnormality of the outer ear	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits		32
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type		118
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	31
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome		114
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	50
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6		161
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome		161
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4		161
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome		146
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type		74
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome		52
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome		52
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type		88
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type		68
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive		15
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type		284
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type		284
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria		72
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria		38
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis		54
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language		4
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly		18
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome		144
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000356	HP:0000356	Abnormality of the outer ear	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EDN1 CL E G H	1906	3176	OMIM:612798	Question mark ears, isolated		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease		257
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome		18
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type		209
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis		209
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type		137
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis		137
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent	102
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	135
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome		135
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0000356	HP:0000356	Abnormality of the outer ear	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia		35
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly		655
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia		18
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia		18
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome		172
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia		172
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1		172
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2		493
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		493
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I		233
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers		30
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion		177
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis		92
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech		143
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis		68
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis		74
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV		270
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia		99
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000356	HP:0000356	Abnormality of the outer ear	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia		21
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0000356	HP:0000356	Abnormality of the outer ear	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome		48
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000356	HP:0000356	Abnormality of the outer ear	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0000356	HP:0000356	Abnormality of the outer ear	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0000356	HP:0000356	Abnormality of the outer ear	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0000356	HP:0000356	Abnormality of the outer ear	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0000356	HP:0000356	Abnormality of the outer ear	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0000356	HP:0000356	Abnormality of the outer ear	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0000356	HP:0000356	Abnormality of the outer ear	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0000356	HP:0000356	Abnormality of the outer ear	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0000356	HP:0000356	Abnormality of the outer ear	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000356	HP:0000356	Abnormality of the outer ear	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000356	HP:0000356	Abnormality of the outer ear	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome		119
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0000356	HP:0000356	Abnormality of the outer ear	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000356	HP:0000356	Abnormality of the outer ear	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant		141
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome		127
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome		46
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome		276
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome		91
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome		91
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2		196
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000356	HP:0000356	Abnormality of the outer ear	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly		44
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0000356	HP:0000356	Abnormality of the outer ear	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25		25
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome		228
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome		69
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome		127
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies		29
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5		25
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly		183
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria		150
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000356	HP:0000356	Abnormality of the outer ear	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome		48
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		96
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY		96
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease		39
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome		1952
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome		88
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome		88
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type		55
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7		55
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome		117
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis		60
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome		85
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	21
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	39
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome		231
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome		531
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)		75
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)		65
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B		99
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent	36
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome		162
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome		162
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional	35
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome		1129
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.	38
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome		28
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type		28
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type		28
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type		28
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome		22
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia		58
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47		1
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0000356	HP:0000356	Abnormality of the outer ear	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome		150
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14		365
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome		68
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		334
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral		572
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0000356	HP:0000356	Abnormality of the outer ear	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	26
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome		61
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome		143
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type		49
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome		40
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent	9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	50
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48		12
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome		93
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome		94
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia		26
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0000356	HP:0000356	Abnormality of the outer ear	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000356	HP:0000356	Abnormality of the outer ear	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome		71
HP:0000356	HP:0000356	Abnormality of the outer ear	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0000356	HP:0000356	Abnormality of the outer ear	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0000356	HP:0000356	Abnormality of the outer ear	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy		108
HP:0000356	HP:0000356	Abnormality of the outer ear	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked		28
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8		76
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV		31
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome		104
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis		98
HP:0000356	HP:0000356	Abnormality of the outer ear	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK		24
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome		37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome		43
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A		54
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome		54
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome		158
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome		108
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital		111
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome		41
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		11
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome		61
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria		135
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		23
HP:0000356	HP:0000356	Abnormality of the outer ear	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome		33
HP:0000356	HP:0000356	Abnormality of the outer ear	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0000356	HP:0000356	Abnormality of the outer ear	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000356	HP:0000356	Abnormality of the outer ear	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0000356	HP:0000356	Abnormality of the outer ear	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0000356	HP:0000356	Abnormality of the outer ear	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0000356	HP:0000356	Abnormality of the outer ear	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0000356	HP:0000356	Abnormality of the outer ear	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome	.	47
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer 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:0000356	HP:0000356	Abnormality of the outer ear	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome		60
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome		389
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0000356	HP:0000356	Abnormality of the outer ear	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0000356	HP:0000356	Abnormality of the outer ear	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0000356	HP:0000356	Abnormality of the outer ear	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0000356	HP:0000356	Abnormality of the outer ear	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11		2
HP:0000356	HP:0000356	Abnormality of the outer ear	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome		14
HP:0000356	HP:0000356	Abnormality of the outer ear	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome		17
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type		10
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97		34
HP:0000356	HP:0000356	Abnormality of the outer ear	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome		1
HP:0000356	HP:0040090	Abnormality of the tympanic membrane	1	CL E G H
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis		130
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome		245
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome		90
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency		120
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	.	123
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency		118
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability		59
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3		89
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040282 - Frequent	37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id		37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis		75
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis		63
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0000356	HP:0000377	Abnormal pinna morphology	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent	219
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome		168
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0000356	HP:0000377	Abnormal pinna morphology	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0000356	HP:0000377	Abnormal pinna morphology	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0000356	HP:0000377	Abnormal pinna morphology	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0000356	HP:0000377	Abnormal pinna morphology	1	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome		38
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000356	HP:0000377	Abnormal pinna morphology	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000356	HP:0000377	Abnormal pinna morphology	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0000356	HP:0000377	Abnormal pinna morphology	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000356	HP:0000377	Abnormal pinna morphology	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0000356	HP:0000377	Abnormal pinna morphology	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0000356	HP:0000377	Abnormal pinna morphology	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0000356	HP:0000377	Abnormal pinna morphology	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII		49
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome		13
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0000356	HP:0000377	Abnormal pinna morphology	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits		32
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type		118
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	HP:0040283 - Occasional	7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.	2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome		114
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6		161
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome		161
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4		161
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome		146
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type		74
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome		52
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome		52
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type		88
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0000356	HP:0040095	Neoplasm of the outer ear	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type		68
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive		15
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type		284
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type		284
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria		72
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria		38
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis		54
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language		4
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly		18
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome		144
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7	.	134
HP:0000356	HP:0000377	Abnormal pinna morphology	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EDN1 CL E G H	1906	3176	OMIM:612798	Question mark ears, isolated		6
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease		257
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000356	HP:0000377	Abnormal pinna morphology	1	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:0000356	HP:0000377	Abnormal pinna morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome		18
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type		209
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis		209
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type		137
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis		137
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome		135
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome		135
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome		135
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0000356	HP:0000377	Abnormal pinna morphology	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia		35
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly		655
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	17
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia		18
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia		18
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome		172
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia		172
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1		172
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome		175
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1		175
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	145
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2		493
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		493
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I		233
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers		30
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion		177
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis		92
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech		143
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis		68
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis		74
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV		270
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia		99
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000356	HP:0000377	Abnormal pinna morphology	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type		2
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome		37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.	2
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia		21
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent	21
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome		48
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent	5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000356	HP:0000377	Abnormal pinna morphology	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0000356	HP:0000377	Abnormal pinna morphology	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0000356	HP:0000377	Abnormal pinna morphology	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0000356	HP:0000377	Abnormal pinna morphology	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0000356	HP:0000377	Abnormal pinna morphology	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0000356	HP:0000377	Abnormal pinna morphology	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0000356	HP:0000377	Abnormal pinna morphology	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0000356	HP:0000377	Abnormal pinna morphology	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0000356	HP:0000377	Abnormal pinna morphology	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000356	HP:0000377	Abnormal pinna morphology	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000356	HP:0000377	Abnormal pinna morphology	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000356	HP:0040095	Neoplasm of the outer ear	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome		119
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0000356	HP:0000377	Abnormal pinna morphology	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000356	HP:0000377	Abnormal pinna morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant		141
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome		127
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome		46
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12		9
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome		276
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome		91
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome		91
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2		196
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000356	HP:0000377	Abnormal pinna morphology	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly		44
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0000356	HP:0000377	Abnormal pinna morphology	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25		25
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	21
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome		228
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome		69
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome		127
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies		29
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5		25
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly		183
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria		150
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000356	HP:0000377	Abnormal pinna morphology	1	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome		48
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		96
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY		96
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease		39
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome		1952
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome		88
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome		88
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type		55
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7		55
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	117
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis		60
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome		85
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome		37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.	4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome		231
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome		531
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)		75
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)		65
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B		99
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.	36
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome		162
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome		162
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	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:0000356	HP:0000377	Abnormal pinna morphology	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome		1129
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3		38
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome		28
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type		28
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type		28
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type		28
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.	27
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome		22
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia		58
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47		1
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0000356	HP:0000377	Abnormal pinna morphology	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000372	Abnormality of the auditory canal	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome		150
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14		365
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome		68
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		334
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral		572
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0000356	HP:0000377	Abnormal pinna morphology	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome		61
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome		143
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type		49
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome		134
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome		40
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome		50
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia		2
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48		12
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome		93
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000372	Abnormality of the auditory canal	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome		94
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia		26
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch		14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0000356	HP:0000377	Abnormal pinna morphology	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000356	HP:0000377	Abnormal pinna morphology	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome		71
HP:0000356	HP:0000377	Abnormal pinna morphology	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0000356	HP:0000377	Abnormal pinna morphology	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0000356	HP:0000377	Abnormal pinna morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy		108
HP:0000356	HP:0000377	Abnormal pinna morphology	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040282 - Frequent	11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked		28
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8		76
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome		104
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis		98
HP:0000356	HP:0000377	Abnormal pinna morphology	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK		24
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome		37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome		43
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A		54
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome		54
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040282 - Frequent	158
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome		108
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital		111
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome		41
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		11
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome		14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome		61
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040283 - Occasional	7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria		135
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		23
HP:0000356	HP:0000377	Abnormal pinna morphology	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome		33
HP:0000356	HP:0000377	Abnormal pinna morphology	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0000356	HP:0000377	Abnormal pinna morphology	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000356	HP:0000377	Abnormal pinna morphology	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0000356	HP:0000377	Abnormal pinna morphology	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0000356	HP:0000377	Abnormal pinna morphology	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0000356	HP:0000372	Abnormality of the auditory canal	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040284 - Very rare	7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0000356	HP:0000377	Abnormal pinna morphology	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.	20
HP:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna 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:0000356	HP:0000377	Abnormal pinna morphology	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome		60
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome		14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040282 - Frequent	389
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0000356	HP:0000377	Abnormal pinna morphology	1	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0000356	HP:0000377	Abnormal pinna morphology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0000356	HP:0000377	Abnormal pinna morphology	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0000356	HP:0000377	Abnormal pinna morphology	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11		2
HP:0000356	HP:0000377	Abnormal pinna morphology	1	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome		14
HP:0000356	HP:0000377	Abnormal pinna morphology	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q		16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.	16
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome		17
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type		10
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97		34
HP:0000356	HP:0000377	Abnormal pinna morphology	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome		1
HP:0000356	HP:0009893	Telangiectasia of the ear	2	CL E G H
HP:0000356	HP:0011252	Cryptotia	2	CL E G H
HP:0000356	HP:0030023	Quelprud nodule	2	CL E G H
HP:0000356	HP:0030677	Mozart ear	2	CL E G H
HP:0000356	HP:0030787	Cerumen abnormality	2	CL E G H
HP:0000356	HP:0040097	Neoplasm of the ceruminal gland	2	CL E G H
HP:0000356	HP:0040098	Basalioma of the outer ear	2	CL E G H
HP:0000356	HP:0040112	Abnormal number of tubercles	2	CL E G H
HP:0000356	HP:0100687	Polyotia	2	CL E G H
HP:0000356	HP:0000411	Protruding ear	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0000356	HP:0011039	Abnormal helix morphology	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0000356	HP:0011039	Abnormal helix morphology	2	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	130
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0000356	HP:0009894	Thickened ears	2	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	245
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome		90
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0000356	HP:0000357	Abnormal location of ears	2	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0000356	HP:0000357	Abnormal location of ears	2	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type		34
HP:0000356	HP:0011039	Abnormal helix morphology	2	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0000356	HP:0000357	Abnormal location of ears	2	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000356	HP:0000357	Abnormal location of ears	2	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency		120
HP:0000356	HP:0000357	Abnormal location of ears	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0000356	HP:0000357	Abnormal location of ears	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0000356	HP:0000357	Abnormal location of ears	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0000356	HP:0000357	Abnormal location of ears	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0000356	HP:0000357	Abnormal location of ears	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0000356	HP:0011039	Abnormal helix morphology	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0000356	HP:0000357	Abnormal location of ears	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0000356	HP:0000357	Abnormal location of ears	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000356	HP:0410017	Otitis externa	2	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0000356	HP:0410017	Otitis externa	2	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0000356	HP:0000357	Abnormal location of ears	2	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus		8
HP:0000356	HP:0000357	Abnormal location of ears	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0000356	HP:0008572	External ear malformation	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000400	Macrotia	2	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000356	HP:0011039	Abnormal helix morphology	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0000356	HP:0000357	Abnormal location of ears	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0000356	HP:0000357	Abnormal location of ears	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0000356	HP:0000400	Macrotia	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0000356	HP:0000357	Abnormal location of ears	2	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9		5
HP:0000356	HP:0000357	Abnormal location of ears	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0000356	HP:0000411	Protruding ear	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0000356	HP:0000357	Abnormal location of ears	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000356	HP:0000357	Abnormal location of ears	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0000356	HP:0000357	Abnormal location of ears	2	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency		118
HP:0000356	HP:0000400	Macrotia	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0000356	HP:0000400	Macrotia	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0000356	HP:0011039	Abnormal helix morphology	2	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability		59
HP:0000356	HP:0000357	Abnormal location of ears	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000356	HP:0011039	Abnormal helix morphology	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0000356	HP:0000357	Abnormal location of ears	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:0000356	HP:0000378	Cupped 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	HP:0040283 - Occasional	6
HP:0000356	HP:0009894	Thickened ears	2	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:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0000356	HP:0011039	Abnormal helix morphology	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000356	HP:0000400	Macrotia	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0000356	HP:0000357	Abnormal location of ears	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0000356	HP:0000357	Abnormal location of ears	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0000356	HP:0000411	Protruding ear	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0000356	HP:0000357	Abnormal location of ears	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0000356	HP:0000411	Protruding ear	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0000356	HP:0000357	Abnormal location of ears	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0000356	HP:0000357	Abnormal location of ears	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0000356	HP:0000357	Abnormal location of ears	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0000356	HP:0000400	Macrotia	2	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040283 - Occasional	5
HP:0000356	HP:0000357	Abnormal location of ears	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0000356	HP:0000400	Macrotia	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0000356	HP:0000357	Abnormal location of ears	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0000356	HP:0000400	Macrotia	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0000356	HP:0000357	Abnormal location of ears	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0000356	HP:0000411	Protruding ear	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0000356	HP:0000357	Abnormal location of ears	2	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3		89
HP:0000356	HP:0000411	Protruding ear	2	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.	89
HP:0000356	HP:0000357	Abnormal location of ears	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0000356	HP:0000400	Macrotia	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0000356	HP:0000357	Abnormal location of ears	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000356	HP:0000357	Abnormal location of ears	2	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0000356	HP:0000357	Abnormal location of ears	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0000356	HP:0000400	Macrotia	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0000356	HP:0000357	Abnormal location of ears	2	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0000356	HP:0000357	Abnormal location of ears	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0000356	HP:0000357	Abnormal location of ears	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0000356	HP:0000357	Abnormal location of ears	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0000356	HP:0000400	Macrotia	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0000356	HP:0000357	Abnormal location of ears	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0000356	HP:0000357	Abnormal location of ears	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000356	HP:0000400	Macrotia	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000356	HP:0000400	Macrotia	2	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0000356	HP:0009894	Thickened ears	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0000356	HP:0011039	Abnormal helix morphology	2	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	75
HP:0000356	HP:0011039	Abnormal helix morphology	2	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	63
HP:0000356	HP:0000357	Abnormal location of ears	2	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0000356	HP:0000357	Abnormal location of ears	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0000356	HP:0000357	Abnormal location of ears	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0000356	HP:0000357	Abnormal location of ears	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0000356	HP:0000357	Abnormal location of ears	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0000356	HP:0000357	Abnormal location of ears	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0000356	HP:0000357	Abnormal location of ears	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000356	HP:0011039	Abnormal helix morphology	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000356	HP:0000357	Abnormal location of ears	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0000356	HP:0011039	Abnormal helix morphology	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000356	HP:0008572	External ear malformation	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040282 - Frequent	150
HP:0000356	HP:0000411	Protruding ear	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040281 - Very frequent	102
HP:0000356	HP:0000357	Abnormal location of ears	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000356	HP:0000400	Macrotia	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0000356	HP:0000400	Macrotia	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0000356	HP:0000411	Protruding ear	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000356	HP:0000357	Abnormal location of ears	2	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000356	HP:0000357	Abnormal location of ears	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0000356	HP:0000411	Protruding ear	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0000356	HP:0000357	Abnormal location of ears	2	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0000356	HP:0000357	Abnormal location of ears	2	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000356	HP:0000400	Macrotia	2	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040282 - Frequent	13
HP:0000356	HP:0000411	Protruding ear	2	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:0000356	HP:0000357	Abnormal location of ears	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000356	HP:0000357	Abnormal location of ears	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0000356	HP:0000400	Macrotia	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0000356	HP:0000411	Protruding ear	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0000356	HP:0000357	Abnormal location of ears	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0000356	HP:0000357	Abnormal location of ears	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000356	HP:0000357	Abnormal location of ears	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000356	HP:0000357	Abnormal location of ears	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0000356	HP:0000357	Abnormal location of ears	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0000356	HP:0000357	Abnormal location of ears	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0000356	HP:0000357	Abnormal location of ears	2	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0000356	HP:0000357	Abnormal location of ears	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000356	HP:0011039	Abnormal helix morphology	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000356	HP:0000411	Protruding ear	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040282 - Frequent	166
HP:0000356	HP:0000411	Protruding ear	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0000356	HP:0000357	Abnormal location of ears	2	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0000356	HP:0000357	Abnormal location of ears	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000356	HP:0000400	Macrotia	2	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0000356	HP:0011039	Abnormal helix morphology	2	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	1
HP:0000356	HP:0000357	Abnormal location of ears	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0000356	HP:0000357	Abnormal location of ears	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0000356	HP:0000357	Abnormal location of ears	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000356	HP:0000378	Cupped ear	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000356	HP:0011039	Abnormal helix morphology	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000356	HP:0000357	Abnormal location of ears	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000356	HP:0000357	Abnormal location of ears	2	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria		4
HP:0000356	HP:0000357	Abnormal location of ears	2	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency		4
HP:0000356	HP:0000357	Abnormal location of ears	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0000356	HP:0000357	Abnormal location of ears	2	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000356	HP:0000357	Abnormal location of ears	2	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0000356	HP:0000357	Abnormal location of ears	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0000356	HP:0000357	Abnormal location of ears	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0000356	HP:0000357	Abnormal location of ears	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0000356	HP:0000357	Abnormal location of ears	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0000356	HP:0000357	Abnormal location of ears	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0000356	HP:0000357	Abnormal location of ears	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0000356	HP:0000400	Macrotia	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0000356	HP:0000411	Protruding ear	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0000356	HP:0000357	Abnormal location of ears	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0000356	HP:0000400	Macrotia	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0000356	HP:0009894	Thickened ears	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	5
HP:0000356	HP:0000357	Abnormal location of ears	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0000356	HP:0000357	Abnormal location of ears	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	168
HP:0000356	HP:0000357	Abnormal location of ears	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	1
HP:0000356	HP:0000357	Abnormal location of ears	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0000356	HP:0000357	Abnormal location of ears	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000356	HP:0000357	Abnormal location of ears	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0000356	HP:0000357	Abnormal location of ears	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0000356	HP:0000357	Abnormal location of ears	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0000356	HP:0000411	Protruding ear	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	43
HP:0000356	HP:0000357	Abnormal location of ears	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0000356	HP:0000357	Abnormal location of ears	2	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome		38
HP:0000356	HP:0000357	Abnormal location of ears	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:0000356	HP:0008772	Aplasia/Hypoplasia of the external 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:0000356	HP:0009896	Abnormal antitragus morphology	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:0000356	HP:0000357	Abnormal location of ears	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000356	HP:0000357	Abnormal location of ears	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000356	HP:0000411	Protruding ear	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000356	HP:0000357	Abnormal location of ears	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0000356	HP:0000357	Abnormal location of ears	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000356	HP:0000357	Abnormal location of ears	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0000356	HP:0000411	Protruding ear	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	17
HP:0000356	HP:0000357	Abnormal location of ears	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0000356	HP:0000357	Abnormal location of ears	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0000356	HP:0000357	Abnormal location of ears	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0000356	HP:0000357	Abnormal location of ears	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0000356	HP:0000357	Abnormal location of ears	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000356	HP:0000357	Abnormal location of ears	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000357	Abnormal location of ears	2	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0000356	HP:0000357	Abnormal location of ears	2	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0000356	HP:0000357	Abnormal location of ears	2	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0000356	HP:0000357	Abnormal location of ears	2	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0000356	HP:0000357	Abnormal location of ears	2	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0000356	HP:0000357	Abnormal location of ears	2	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0000356	HP:0000357	Abnormal location of ears	2	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0000356	HP:0000357	Abnormal location of ears	2	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0000356	HP:0000357	Abnormal location of ears	2	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin		11
HP:0000356	HP:0000378	Cupped ear	2	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0000356	HP:0011039	Abnormal helix morphology	2	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin		11
HP:0000356	HP:0000357	Abnormal location of ears	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0000356	HP:0000357	Abnormal location of ears	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000356	HP:0008572	External ear malformation	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0000356	HP:0000357	Abnormal location of ears	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000356	HP:0011039	Abnormal helix morphology	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000356	HP:0000357	Abnormal location of ears	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000356	HP:0000378	Cupped ear	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	5
HP:0000356	HP:0011039	Abnormal helix morphology	2	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0000356	HP:0000357	Abnormal location of ears	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0000411	Protruding ear	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0020206	Simple ear	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0011039	Abnormal helix morphology	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0000411	Protruding ear	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0000356	HP:0000411	Protruding ear	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0000356	HP:0008572	External ear malformation	2	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	4
HP:0000356	HP:0000357	Abnormal location of ears	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0000356	HP:0000411	Protruding ear	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional	49
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome		13
HP:0000356	HP:0011039	Abnormal helix morphology	2	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome		13
HP:0000356	HP:0000357	Abnormal location of ears	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0000356	HP:0000357	Abnormal location of ears	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000356	HP:0000400	Macrotia	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6	.	38
HP:0000356	HP:0000411	Protruding ear	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000356	HP:0000357	Abnormal location of ears	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0000356	HP:0000357	Abnormal location of ears	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0000356	HP:0000400	Macrotia	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0000356	HP:0011039	Abnormal helix morphology	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0000356	HP:0000357	Abnormal location of ears	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000356	HP:0000357	Abnormal location of ears	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0000356	HP:0000357	Abnormal location of ears	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000356	HP:0000357	Abnormal location of ears	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000356	HP:0011039	Abnormal helix morphology	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000356	HP:0000357	Abnormal location of ears	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0000356	HP:0008572	External ear malformation	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000356	HP:0008572	External ear malformation	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000356	HP:0000357	Abnormal location of ears	2	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0000356	HP:0000357	Abnormal location of ears	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000356	HP:0000400	Macrotia	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0000356	HP:0000357	Abnormal location of ears	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0000356	HP:0008572	External ear malformation	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000356	HP:0000378	Cupped ear	2	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0000356	HP:0000400	Macrotia	2	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0000356	HP:0000400	Macrotia	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0000356	HP:0000411	Protruding ear	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040284 - Very rare	53
HP:0000356	HP:0000357	Abnormal location of ears	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0000356	HP:0000357	Abnormal location of ears	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0000356	HP:0000357	Abnormal location of ears	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0000356	HP:0000357	Abnormal location of ears	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome		13
HP:0000356	HP:0000357	Abnormal location of ears	2	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome		13
HP:0000356	HP:0000394	Lop ear	2	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0000356	HP:0000357	Abnormal location of ears	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0000356	HP:0000357	Abnormal location of ears	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0000356	HP:0000400	Macrotia	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0000356	HP:0000357	Abnormal location of ears	2	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000356	HP:0000357	Abnormal location of ears	2	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits		32
HP:0000356	HP:0000357	Abnormal location of ears	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0000356	HP:0000411	Protruding ear	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.	1
HP:0000356	HP:0000357	Abnormal location of ears	2	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0000356	HP:0000357	Abnormal location of ears	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0000356	HP:0000411	Protruding ear	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0000356	HP:0400005	Short ear	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	HP:0040283 - Occasional	34
HP:0000356	HP:0400005	Short ear	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare	34
HP:0000356	HP:0000357	Abnormal location of ears	2	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0000356	HP:0020206	Simple ear	2	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000356	HP:0000411	Protruding ear	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000356	HP:0000400	Macrotia	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0000356	HP:0000400	Macrotia	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent	118
HP:0000356	HP:0000357	Abnormal location of ears	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000356	HP:0000357	Abnormal location of ears	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0000356	HP:0000357	Abnormal location of ears	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0000356	HP:0011039	Abnormal helix morphology	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0000356	HP:0000357	Abnormal location of ears	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0000356	HP:0000400	Macrotia	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0000356	HP:0000357	Abnormal location of ears	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0000356	HP:0000357	Abnormal location of ears	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0000356	HP:0000357	Abnormal location of ears	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0000356	HP:0000357	Abnormal location of ears	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0000356	HP:0000357	Abnormal location of ears	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0000356	HP:0000357	Abnormal location of ears	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0000356	HP:0008572	External ear malformation	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0000356	HP:0000357	Abnormal location of ears	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0000356	HP:0000411	Protruding ear	2	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0000356	HP:0000411	Protruding ear	2	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:0000356	HP:0000411	Protruding ear	2	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0000356	HP:0000357	Abnormal location of ears	2	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies		3
HP:0000356	HP:0000394	Lop ear	2	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040281 - Very frequent	7
HP:0000356	HP:0000357	Abnormal location of ears	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0000356	HP:0008572	External ear malformation	2	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	9
HP:0000356	HP:0008572	External ear malformation	2	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	6
HP:0000356	HP:0000357	Abnormal location of ears	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0000356	HP:0000357	Abnormal location of ears	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0000356	HP:0000357	Abnormal location of ears	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0000356	HP:0000357	Abnormal location of ears	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0000356	HP:0000357	Abnormal location of ears	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000356	HP:0000357	Abnormal location of ears	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	9
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0000356	HP:0000357	Abnormal location of ears	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000356	HP:0000357	Abnormal location of ears	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	31
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0000356	HP:0000357	Abnormal location of ears	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0000356	HP:0000357	Abnormal location of ears	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0000356	HP:0000357	Abnormal location of ears	2	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000356	HP:0011039	Abnormal helix morphology	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000356	HP:0000357	Abnormal location of ears	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000356	HP:0011039	Abnormal helix morphology	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000356	HP:0011039	Abnormal helix morphology	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0000356	HP:0000357	Abnormal location of ears	2	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome		114
HP:0000356	HP:0000357	Abnormal location of ears	2	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0000356	HP:0000357	Abnormal location of ears	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0000356	HP:0000357	Abnormal location of ears	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	50
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0000356	HP:0000357	Abnormal location of ears	2	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0000356	HP:0000400	Macrotia	2	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive		20
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	20
HP:0000356	HP:0000357	Abnormal location of ears	2	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6		161
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	161
HP:0000356	HP:0000357	Abnormal location of ears	2	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4		161
HP:0000356	HP:0000357	Abnormal location of ears	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0000356	HP:0000357	Abnormal location of ears	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0000356	HP:0000357	Abnormal location of ears	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0000356	HP:0000400	Macrotia	2	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	146
HP:0000356	HP:0000357	Abnormal location of ears	2	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000357	Abnormal location of ears	2	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0000356	HP:0000357	Abnormal location of ears	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0000356	HP:0000357	Abnormal location of ears	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0000356	HP:0000357	Abnormal location of ears	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0000356	HP:0000357	Abnormal location of ears	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0000356	HP:0000357	Abnormal location of ears	2	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000356	HP:0000357	Abnormal location of ears	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0000356	HP:0000357	Abnormal location of ears	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000356	HP:0100830	Round ear	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000356	HP:0000357	Abnormal location of ears	2	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0000356	HP:0000357	Abnormal location of ears	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0000356	HP:0000357	Abnormal location of ears	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0000356	HP:0000378	Cupped ear	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0000356	HP:0000357	Abnormal location of ears	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000356	HP:0000378	Cupped ear	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000356	HP:0000357	Abnormal location of ears	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000356	HP:0000357	Abnormal location of ears	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000356	HP:0000378	Cupped ear	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000356	HP:0000394	Lop ear	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000356	HP:0008572	External ear malformation	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000356	HP:0011039	Abnormal helix morphology	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000356	HP:0000357	Abnormal location of ears	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000356	HP:0000357	Abnormal location of ears	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000356	HP:0008572	External ear malformation	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000356	HP:0000357	Abnormal location of ears	2	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type		74
HP:0000356	HP:0000400	Macrotia	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0000356	HP:0000400	Macrotia	2	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional	52
HP:0000356	HP:0000411	Protruding ear	2	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional	52
HP:0000356	HP:0000357	Abnormal location of ears	2	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type		88
HP:0000356	HP:0000357	Abnormal location of ears	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0000356	HP:0000357	Abnormal location of ears	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0000356	HP:0004459	Exostosis of the external auditory canal	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0000356	HP:0000357	Abnormal location of ears	2	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type		68
HP:0000356	HP:0000357	Abnormal location of ears	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0000356	HP:0000411	Protruding ear	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0000356	HP:0000357	Abnormal location of ears	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0000356	HP:0000400	Macrotia	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0000356	HP:0000411	Protruding ear	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0000356	HP:0008572	External ear malformation	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0000356	HP:0000357	Abnormal location of ears	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:0000356	HP:0008772	Aplasia/Hypoplasia of the external 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:0000356	HP:0009896	Abnormal antitragus morphology	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:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0000356	HP:0000357	Abnormal location of ears	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0000356	HP:0000357	Abnormal location of ears	2	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000356	HP:0011039	Abnormal helix morphology	2	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000356	HP:0000357	Abnormal location of ears	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000356	HP:0000400	Macrotia	2	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0000356	HP:0000411	Protruding ear	2	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2	.	6
HP:0000356	HP:0000357	Abnormal location of ears	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000356	HP:0000400	Macrotia	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000356	HP:0000411	Protruding ear	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040284 - Very rare	9
HP:0000356	HP:0000411	Protruding ear	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040284 - Very rare	27
HP:0000356	HP:0000400	Macrotia	2	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0000356	HP:0000400	Macrotia	2	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent	4
HP:0000356	HP:0011039	Abnormal helix morphology	2	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome		4
HP:0000356	HP:0000357	Abnormal location of ears	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.	1
HP:0000356	HP:0000357	Abnormal location of ears	2	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis		2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis		2
HP:0000356	HP:0000357	Abnormal location of ears	2	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	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:0000356	HP:0000357	Abnormal location of ears	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000356	HP:0000357	Abnormal location of ears	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3		9
HP:0000356	HP:0000357	Abnormal location of ears	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0000356	HP:0000357	Abnormal location of ears	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000356	HP:0000357	Abnormal location of ears	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0000356	HP:0000357	Abnormal location of ears	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0000356	HP:0000357	Abnormal location of ears	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0000356	HP:0000357	Abnormal location of ears	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0000356	HP:0000357	Abnormal location of ears	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0000356	HP:0000357	Abnormal location of ears	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0000356	HP:0000357	Abnormal location of ears	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0000356	HP:0000357	Abnormal location of ears	2	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19		6
HP:0000356	HP:0000357	Abnormal location of ears	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0000356	HP:0000357	Abnormal location of ears	2	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type		284
HP:0000356	HP:0000357	Abnormal location of ears	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0000356	HP:0000357	Abnormal location of ears	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0000356	HP:0000411	Protruding ear	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0000356	HP:0009896	Abnormal antitragus morphology	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0000356	HP:0011039	Abnormal helix morphology	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional	284
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0000356	HP:0000411	Protruding ear	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0000356	HP:0000357	Abnormal location of ears	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0000356	HP:0000411	Protruding ear	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	193
HP:0000356	HP:0000394	Lop ear	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660
HP:0000356	HP:0000411	Protruding ear	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0000356	HP:0000411	Protruding ear	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0000356	HP:0000411	Protruding ear	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional	263
HP:0000356	HP:0000357	Abnormal location of ears	2	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0000356	HP:0000400	Macrotia	2	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0000356	HP:0030025	Auricular pit	2	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000356	HP:0000357	Abnormal location of ears	2	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0000356	HP:0000400	Macrotia	2	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0000356	HP:0000357	Abnormal location of ears	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000356	HP:0011039	Abnormal helix morphology	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000356	HP:0000357	Abnormal location of ears	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0000356	HP:0000400	Macrotia	2	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000356	HP:0000357	Abnormal location of ears	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000356	HP:0000357	Abnormal location of ears	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000356	HP:0000357	Abnormal location of ears	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0000356	HP:0011039	Abnormal helix morphology	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria		72
HP:0000356	HP:0000357	Abnormal location of ears	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0000356	HP:0011039	Abnormal helix morphology	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0000356	HP:0000357	Abnormal location of ears	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0000411	Protruding ear	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0400005	Short ear	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0011039	Abnormal helix morphology	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0000357	Abnormal location of ears	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000356	HP:0020206	Simple ear	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000356	HP:0000357	Abnormal location of ears	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0000356	HP:0000357	Abnormal location of ears	2	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000356	HP:0000357	Abnormal location of ears	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000356	HP:0000411	Protruding ear	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000357	Abnormal location of ears	2	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0000356	HP:0000357	Abnormal location of ears	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0000356	HP:0000357	Abnormal location of ears	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0000356	HP:0011039	Abnormal helix morphology	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0000356	HP:0000357	Abnormal location of ears	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0000356	HP:0000357	Abnormal location of ears	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0000356	HP:0000378	Cupped ear	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0000356	HP:0000357	Abnormal location of ears	2	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000356	HP:0008572	External ear malformation	2	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria	HP:0040283 - Occasional	38
HP:0000356	HP:0000357	Abnormal location of ears	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0000356	HP:0000357	Abnormal location of ears	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0000356	HP:0000357	Abnormal location of ears	2	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0000356	HP:0000400	Macrotia	2	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent	38
HP:0000356	HP:0000411	Protruding ear	2	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:0000356	HP:0000357	Abnormal location of ears	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0000356	HP:0000400	Macrotia	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0000356	HP:0000357	Abnormal location of ears	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0000356	HP:0000400	Macrotia	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0000356	HP:0011039	Abnormal helix morphology	2	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	54
HP:0000356	HP:0008572	External ear malformation	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000356	HP:0009912	Abnormal tragus morphology	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000356	HP:0011039	Abnormal helix morphology	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000356	HP:0000378	Cupped ear	2	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0000356	HP:0011039	Abnormal helix morphology	2	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0000356	HP:0000357	Abnormal location of ears	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0000356	HP:0000411	Protruding ear	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	108
HP:0000356	HP:0000411	Protruding ear	2	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	HP:0040283 - Occasional	87
HP:0000356	HP:0000411	Protruding ear	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0000356	HP:0000357	Abnormal location of ears	2	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome		5
HP:0000356	HP:0000357	Abnormal location of ears	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000356	HP:0000400	Macrotia	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000356	HP:0020206	Simple ear	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000356	HP:0000357	Abnormal location of ears	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000356	HP:0000378	Cupped ear	2	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.	13
HP:0000356	HP:0000357	Abnormal location of ears	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0000356	HP:0000357	Abnormal location of ears	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000356	HP:0011039	Abnormal helix morphology	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000356	HP:0000400	Macrotia	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.	6
HP:0000356	HP:0000357	Abnormal location of ears	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000356	HP:0000357	Abnormal location of ears	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent	72
HP:0000356	HP:0000378	Cupped ear	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000356	HP:0000357	Abnormal location of ears	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000356	HP:0000357	Abnormal location of ears	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000356	HP:0000357	Abnormal location of ears	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0000356	HP:0000357	Abnormal location of ears	2	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0000356	HP:0000378	Cupped ear	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0000356	HP:0000378	Cupped ear	2	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0000356	HP:0000357	Abnormal location of ears	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000356	HP:0000357	Abnormal location of ears	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000356	HP:0020206	Simple ear	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000356	HP:0000357	Abnormal location of ears	2	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language		4
HP:0000356	HP:0000411	Protruding 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:0000356	HP:0000357	Abnormal location of ears	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0000356	HP:0000357	Abnormal location of ears	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0000356	HP:0011039	Abnormal helix morphology	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0000356	HP:0000357	Abnormal location of ears	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000356	HP:0000357	Abnormal location of ears	2	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000356	HP:0000357	Abnormal location of ears	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000356	HP:0000357	Abnormal location of ears	2	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0000356	HP:0000411	Protruding ear	2	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15	.	1
HP:0000356	HP:0000378	Cupped ear	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0000356	HP:0000357	Abnormal location of ears	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0000356	HP:0000357	Abnormal location of ears	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0000356	HP:0000357	Abnormal location of ears	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0000356	HP:0000411	Protruding ear	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	HP:0040283 - Occasional	18
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0000356	HP:0011039	Abnormal helix morphology	2	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0000356	HP:0000357	Abnormal location of ears	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0000356	HP:0000357	Abnormal location of ears	2	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0000356	HP:0000357	Abnormal location of ears	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000356	HP:0000400	Macrotia	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000356	HP:0000357	Abnormal location of ears	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0000356	HP:0000357	Abnormal location of ears	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0000356	HP:0000357	Abnormal location of ears	2	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000356	HP:0000411	Protruding ear	2	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040283 - Occasional	18
HP:0000356	HP:0400004	Long ear	2	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent	144
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0000356	HP:0000400	Macrotia	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000356	HP:0000411	Protruding ear	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0000356	HP:0000357	Abnormal location of ears	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0000356	HP:0000400	Macrotia	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0000356	HP:0000411	Protruding ear	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0000356	HP:0008572	External ear malformation	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0000356	HP:0011039	Abnormal helix morphology	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	747
HP:0000356	HP:0000357	Abnormal location of ears	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0000356	HP:0000357	Abnormal location of ears	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0000356	HP:0000357	Abnormal location of ears	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000356	HP:0000357	Abnormal location of ears	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0000356	HP:0000357	Abnormal location of ears	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000356	HP:0000357	Abnormal location of ears	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0000356	HP:0000411	Protruding ear	2	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:0000356	HP:0000411	Protruding ear	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0000356	HP:0000400	Macrotia	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000356	HP:0011039	Abnormal helix morphology	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000356	HP:0000357	Abnormal location of ears	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0000356	HP:0000357	Abnormal location of ears	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000356	HP:0011039	Abnormal helix morphology	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000356	HP:0000357	Abnormal location of ears	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0000356	HP:0000357	Abnormal location of ears	2	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0000356	HP:0000357	Abnormal location of ears	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0000356	HP:0000357	Abnormal location of ears	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0000356	HP:0000378	Cupped ear	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0000356	HP:0000357	Abnormal location of ears	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000356	HP:0000411	Protruding ear	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000356	HP:0011039	Abnormal helix morphology	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000356	HP:0000357	Abnormal location of ears	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0000356	HP:0008572	External ear malformation	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent	6
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0000356	HP:0011039	Abnormal helix morphology	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0000356	HP:0030022	Question mark ear	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	HP:0040283 - Occasional	6
HP:0000356	HP:0030022	Question mark ear	2	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	.	6
HP:0000356	HP:0030022	Question mark ear	2	EDN1 CL E G H	1906	3176	OMIM:612798	Question mark ears, isolated	.	6
HP:0000356	HP:0000357	Abnormal location of ears	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000356	HP:0000378	Cupped ear	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000356	HP:0000411	Protruding ear	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000356	HP:0000357	Abnormal location of ears	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000356	HP:0000400	Macrotia	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000356	HP:0400004	Long ear	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0000356	HP:0000357	Abnormal location of ears	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0000356	HP:0000400	Macrotia	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	4
HP:0000356	HP:0000357	Abnormal location of ears	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0000356	HP:0000357	Abnormal location of ears	2	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0000356	HP:0000357	Abnormal location of ears	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0000356	HP:0000357	Abnormal location of ears	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0000356	HP:0011039	Abnormal helix morphology	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0000356	HP:0000357	Abnormal location of ears	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent	48
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0000356	HP:0009912	Abnormal tragus morphology	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0000356	HP:0011039	Abnormal helix morphology	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0000356	HP:0410017	Otitis externa	2	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome		8
HP:0000356	HP:0000400	Macrotia	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0000356	HP:0000357	Abnormal location of ears	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000356	HP:0000357	Abnormal location of ears	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0000356	HP:0000411	Protruding ear	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0000356	HP:0000357	Abnormal location of ears	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000356	HP:0000378	Cupped ear	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000356	HP:0400004	Long ear	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000356	HP:0000357	Abnormal location of ears	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0000356	HP:0000411	Protruding ear	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0000356	HP:0000357	Abnormal location of ears	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000356	HP:0000400	Macrotia	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000356	HP:0000411	Protruding ear	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000356	HP:0000357	Abnormal location of ears	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000356	HP:0020206	Simple ear	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000356	HP:0000357	Abnormal location of ears	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0000356	HP:0011039	Abnormal helix morphology	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0000356	HP:0000357	Abnormal location of ears	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0000356	HP:0000357	Abnormal location of ears	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0000356	HP:0000357	Abnormal location of ears	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0000356	HP:0000400	Macrotia	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0000356	HP:0000411	Protruding ear	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0000356	HP:0000400	Macrotia	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0000356	HP:0000411	Protruding ear	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	HP:0040283 - Occasional	106
HP:0000356	HP:0000411	Protruding ear	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0000356	HP:0000400	Macrotia	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0000356	HP:0008572	External ear malformation	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000356	HP:0000357	Abnormal location of ears	2	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0000356	HP:0000357	Abnormal location of ears	2	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0000356	HP:0000400	Macrotia	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0000356	HP:0000400	Macrotia	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0000356	HP:0000400	Macrotia	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0000356	HP:0000400	Macrotia	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0000356	HP:0000400	Macrotia	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0000356	HP:0000400	Macrotia	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0000356	HP:0000357	Abnormal location of ears	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0000356	HP:0000357	Abnormal location of ears	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0000356	HP:0008572	External ear malformation	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040282 - Frequent	209
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis		209
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040282 - Frequent	137
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis		137
HP:0000356	HP:0000357	Abnormal location of ears	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0000356	HP:0020206	Simple ear	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0000356	HP:0000357	Abnormal location of ears	2	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000356	HP:0000357	Abnormal location of ears	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000356	HP:0000357	Abnormal location of ears	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000356	HP:0000357	Abnormal location of ears	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0000356	HP:0000411	Protruding ear	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	96
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0000356	HP:0008572	External ear malformation	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	135
HP:0000356	HP:0000357	Abnormal location of ears	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0000356	HP:0000378	Cupped ear	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0000356	HP:0000378	Cupped ear	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000356	HP:0000378	Cupped ear	2	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0000356	HP:0000400	Macrotia	2	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	135
HP:0000356	HP:0000411	Protruding ear	2	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	135
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040283 - Occasional	135
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040282 - Frequent	135
HP:0000356	HP:0000357	Abnormal location of ears	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0000356	HP:0000400	Macrotia	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0000356	HP:0000400	Macrotia	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	81
HP:0000356	HP:0000357	Abnormal location of ears	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000356	HP:0000357	Abnormal location of ears	2	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia		35
HP:0000356	HP:0000357	Abnormal location of ears	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0000356	HP:0000411	Protruding ear	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0000356	HP:0008572	External ear malformation	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000356	HP:0008572	External ear malformation	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000356	HP:0000357	Abnormal location of ears	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000356	HP:0011039	Abnormal helix morphology	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0000356	HP:0008572	External ear malformation	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000356	HP:0008572	External ear malformation	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000356	HP:0000357	Abnormal location of ears	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000356	HP:0008572	External ear malformation	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000356	HP:0008572	External ear malformation	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000356	HP:0008572	External ear malformation	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000356	HP:0008572	External ear malformation	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000356	HP:0008572	External ear malformation	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000356	HP:0000357	Abnormal location of ears	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000356	HP:0008572	External ear malformation	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000356	HP:0000400	Macrotia	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional	7
HP:0000356	HP:0000400	Macrotia	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0000356	HP:0000357	Abnormal location of ears	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0000356	HP:0008572	External ear malformation	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0000356	HP:0000357	Abnormal location of ears	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0000356	HP:0000411	Protruding ear	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0000356	HP:0000357	Abnormal location of ears	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0000356	HP:0009901	Crumpled ear	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent	1361
HP:0000356	HP:0000357	Abnormal location of ears	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0000356	HP:0000411	Protruding ear	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0000356	HP:0011039	Abnormal helix morphology	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0000356	HP:0009901	Crumpled ear	2	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent	655
HP:0000356	HP:0011039	Abnormal helix morphology	2	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly		655
HP:0000356	HP:0009901	Crumpled ear	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0000356	HP:0000411	Protruding ear	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0000356	HP:0000357	Abnormal location of ears	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0000356	HP:0000378	Cupped ear	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000356	HP:0000357	Abnormal location of ears	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000356	HP:0000400	Macrotia	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000356	HP:0000357	Abnormal location of ears	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000356	HP:0008572	External ear malformation	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0000356	HP:0000357	Abnormal location of ears	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0000356	HP:0000378	Cupped ear	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0000356	HP:0000378	Cupped ear	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0000356	HP:0000357	Abnormal location of ears	2	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral		2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia		18
HP:0000356	HP:0000357	Abnormal location of ears	2	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia		18
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia		18
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome		172
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0000356	HP:0000411	Protruding ear	2	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040282 - Frequent	172
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1		172
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome		175
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0000356	HP:0000400	Macrotia	2	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0000356	HP:0011039	Abnormal helix morphology	2	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0000356	HP:0011039	Abnormal helix morphology	2	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0000356	HP:0000378	Cupped ear	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000356	HP:0000378	Cupped ear	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1		175
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent	175
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0000356	HP:0008572	External ear malformation	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0000356	HP:0011039	Abnormal helix morphology	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0000356	HP:0011039	Abnormal helix morphology	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0000356	HP:0000378	Cupped ear	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0000356	HP:0000378	Cupped ear	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0000356	HP:0000357	Abnormal location of ears	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0000356	HP:0008572	External ear malformation	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0000356	HP:0011039	Abnormal helix morphology	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0000356	HP:0000400	Macrotia	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0000356	HP:0000411	Protruding ear	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0000356	HP:0000400	Macrotia	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0000356	HP:0000357	Abnormal location of ears	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0000356	HP:0000357	Abnormal location of ears	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000356	HP:0000378	Cupped ear	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000356	HP:0000411	Protruding ear	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000356	HP:0000357	Abnormal location of ears	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external 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:0000356	HP:0000357	Abnormal location of ears	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0000356	HP:0000411	Protruding ear	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	157
HP:0000356	HP:0000357	Abnormal location of ears	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external 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:0000356	HP:0000357	Abnormal location of ears	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0000356	HP:0000411	Protruding ear	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	184
HP:0000356	HP:0000357	Abnormal location of ears	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0000356	HP:0000411	Protruding ear	2	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2	.	493
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2		493
HP:0000356	HP:0000357	Abnormal location of ears	2	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		493
HP:0000356	HP:0000400	Macrotia	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0000356	HP:0000357	Abnormal location of ears	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0000356	HP:0000357	Abnormal location of ears	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0000356	HP:0000357	Abnormal location of ears	2	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0000356	HP:0000357	Abnormal location of ears	2	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I		233
HP:0000356	HP:0000357	Abnormal location of ears	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0000356	HP:0000400	Macrotia	2	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0000356	HP:0000411	Protruding ear	2	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040282 - Frequent	30
HP:0000356	HP:0000400	Macrotia	2	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare	30
HP:0000356	HP:0000357	Abnormal location of ears	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0000356	HP:0000411	Protruding ear	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0000356	HP:0009896	Abnormal antitragus morphology	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0000356	HP:0011039	Abnormal helix morphology	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0000356	HP:0000357	Abnormal location of ears	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000356	HP:0000411	Protruding ear	2	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent	177
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent	177
HP:0000356	HP:0000411	Protruding ear	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0000356	HP:0000378	Cupped ear	2	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0000356	HP:0000357	Abnormal location of ears	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0000356	HP:0011039	Abnormal helix morphology	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0000356	HP:0011039	Abnormal helix morphology	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech		143
HP:0000356	HP:0000357	Abnormal location of ears	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0000356	HP:0000357	Abnormal location of ears	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000356	HP:0000378	Cupped ear	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0000356	HP:0008572	External ear malformation	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0000356	HP:0011039	Abnormal helix morphology	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000356	HP:0000357	Abnormal location of ears	2	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000356	HP:0011039	Abnormal helix morphology	2	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000356	HP:0000357	Abnormal location of ears	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0000356	HP:0008572	External ear malformation	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0000356	HP:0000357	Abnormal location of ears	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0000356	HP:0000411	Protruding ear	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0000356	HP:0000357	Abnormal location of ears	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0000356	HP:0000400	Macrotia	2	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0000356	HP:0000357	Abnormal location of ears	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000356	HP:0000357	Abnormal location of ears	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000356	HP:0000357	Abnormal location of ears	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000356	HP:0000357	Abnormal location of ears	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0000356	HP:0000357	Abnormal location of ears	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0000356	HP:0008572	External ear malformation	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0000356	HP:0000357	Abnormal location of ears	2	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000356	HP:0000357	Abnormal location of ears	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000356	HP:0011039	Abnormal helix morphology	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000356	HP:0000357	Abnormal location of ears	2	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral		1
HP:0000356	HP:0000411	Protruding ear	2	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	68
HP:0000356	HP:0008572	External ear malformation	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0000356	HP:0000357	Abnormal location of ears	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:0000356	HP:0000357	Abnormal location of ears	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000356	HP:0000411	Protruding ear	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000356	HP:0020206	Simple ear	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000356	HP:0000357	Abnormal location of ears	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000356	HP:0000411	Protruding ear	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000356	HP:0020206	Simple ear	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000356	HP:0000411	Protruding ear	2	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	74
HP:0000356	HP:0000411	Protruding ear	2	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	12
HP:0000356	HP:0000357	Abnormal location of ears	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0000356	HP:0000357	Abnormal location of ears	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0000356	HP:0000400	Macrotia	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0000356	HP:0000357	Abnormal location of ears	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0000356	HP:0000357	Abnormal location of ears	2	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1		45
HP:0000356	HP:0000400	Macrotia	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000356	HP:0009912	Abnormal tragus morphology	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000356	HP:0000357	Abnormal location of ears	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000356	HP:0000357	Abnormal location of ears	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000356	HP:0030021	Auricular tag	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV	.	270
HP:0000356	HP:0000357	Abnormal location of ears	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0000356	HP:0000357	Abnormal location of ears	2	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0000356	HP:0000357	Abnormal location of ears	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	3
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0000356	HP:0000357	Abnormal location of ears	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000356	HP:0000357	Abnormal location of ears	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0000356	HP:0008572	External ear malformation	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent	2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0011039	Abnormal helix morphology	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0000356	HP:0030022	Question mark ear	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000357	Abnormal location of ears	2	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000356	HP:0000378	Cupped ear	2	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000356	HP:0011039	Abnormal helix morphology	2	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000356	HP:0011039	Abnormal helix morphology	2	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome		12
HP:0000356	HP:0000357	Abnormal location of ears	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000356	HP:0011039	Abnormal helix morphology	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000356	HP:0000357	Abnormal location of ears	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000356	HP:0000400	Macrotia	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000356	HP:0000357	Abnormal location of ears	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0000356	HP:0000357	Abnormal location of ears	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0000356	HP:0000357	Abnormal location of ears	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0000356	HP:0000357	Abnormal location of ears	2	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000356	HP:0000400	Macrotia	2	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000356	HP:0000357	Abnormal location of ears	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000356	HP:0011039	Abnormal helix morphology	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000356	HP:0000357	Abnormal location of ears	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000356	HP:0011039	Abnormal helix morphology	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000356	HP:0011039	Abnormal helix morphology	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000356	HP:0000357	Abnormal location of ears	2	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000356	HP:0011039	Abnormal helix morphology	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000356	HP:0011039	Abnormal helix morphology	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000356	HP:0000357	Abnormal location of ears	2	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia		99
HP:0000356	HP:0000357	Abnormal location of ears	2	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0000356	HP:0000400	Macrotia	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0000356	HP:0000357	Abnormal location of ears	2	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0000356	HP:0000357	Abnormal location of ears	2	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0000356	HP:0000357	Abnormal location of ears	2	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0000356	HP:0000357	Abnormal location of ears	2	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0000356	HP:0000400	Macrotia	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0000356	HP:0000400	Macrotia	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0000356	HP:0000357	Abnormal location of ears	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0000356	HP:0008572	External ear malformation	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0000356	HP:0000411	Protruding ear	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0000356	HP:0000411	Protruding ear	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000356	HP:0000357	Abnormal location of ears	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0000356	HP:0000357	Abnormal location of ears	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000400	Macrotia	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000411	Protruding ear	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000357	Abnormal location of ears	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000400	Macrotia	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000411	Protruding ear	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000357	Abnormal location of ears	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000400	Macrotia	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000411	Protruding ear	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000357	Abnormal location of ears	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0000356	HP:0000411	Protruding ear	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0000356	HP:0000411	Protruding ear	2	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent	4
HP:0000356	HP:0011039	Abnormal helix morphology	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000356	HP:0000357	Abnormal location of ears	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000356	HP:0000357	Abnormal location of ears	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000356	HP:0011039	Abnormal helix morphology	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000356	HP:0000357	Abnormal location of ears	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000356	HP:0000357	Abnormal location of ears	2	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0000356	HP:0000357	Abnormal location of ears	2	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0000356	HP:0000400	Macrotia	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000356	HP:0000357	Abnormal location of ears	2	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia		2
HP:0000356	HP:0000357	Abnormal location of ears	2	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type		2
HP:0000356	HP:0000357	Abnormal location of ears	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000356	HP:0000400	Macrotia	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome		37
HP:0000356	HP:0000357	Abnormal location of ears	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000356	HP:0000411	Protruding ear	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000356	HP:0000400	Macrotia	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0000356	HP:0000357	Abnormal location of ears	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0000356	HP:0000357	Abnormal location of ears	2	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation		16
HP:0000356	HP:0000400	Macrotia	2	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0000356	HP:0000357	Abnormal location of ears	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0000356	HP:0000400	Macrotia	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0000356	HP:0000357	Abnormal location of ears	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0000356	HP:0000400	Macrotia	2	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000356	HP:0011039	Abnormal helix morphology	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0000356	HP:0000357	Abnormal location of ears	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0000356	HP:0000357	Abnormal location of ears	2	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13		2
HP:0000356	HP:0000357	Abnormal location of ears	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0000356	HP:0000411	Protruding 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	HP:0040283 - Occasional	8
HP:0000356	HP:0000411	Protruding 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	HP:0040283 - Occasional	8
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent	21
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia		21
HP:0000356	HP:0011039	Abnormal helix morphology	2	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia		21
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000356	HP:0011039	Abnormal helix morphology	2	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000356	HP:0000357	Abnormal location of ears	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0000356	HP:0000357	Abnormal location of ears	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0000356	HP:0000357	Abnormal location of ears	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0000356	HP:0000357	Abnormal location of ears	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0000356	HP:0000357	Abnormal location of ears	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000356	HP:0011039	Abnormal helix morphology	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000356	HP:0000357	Abnormal location of ears	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0000356	HP:0000357	Abnormal location of ears	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000356	HP:0000357	Abnormal location of ears	2	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0000356	HP:0000357	Abnormal location of ears	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0000356	HP:0000357	Abnormal location of ears	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000356	HP:0011039	Abnormal helix morphology	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000356	HP:0000357	Abnormal location of ears	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0000356	HP:0011039	Abnormal helix morphology	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0000356	HP:0000357	Abnormal location of ears	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000356	HP:0000378	Cupped ear	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0000356	HP:0000411	Protruding ear	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0000356	HP:0000357	Abnormal location of ears	2	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0000356	HP:0000357	Abnormal location of ears	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0000356	HP:0000357	Abnormal location of ears	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000356	HP:0000400	Macrotia	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0000356	HP:0000357	Abnormal location of ears	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0000356	HP:0000357	Abnormal location of ears	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0000356	HP:0000411	Protruding ear	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0000356	HP:0000357	Abnormal location of ears	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000356	HP:0000357	Abnormal location of ears	2	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome		48
HP:0000356	HP:0000357	Abnormal location of ears	2	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000357	Abnormal location of ears	2	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly		4
HP:0000356	HP:0000357	Abnormal location of ears	2	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome		3
HP:0000356	HP:0000357	Abnormal location of ears	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0000356	HP:0000357	Abnormal location of ears	2	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome		5
HP:0000356	HP:0000378	Cupped ear	2	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent	5
HP:0000356	HP:0000357	Abnormal location of ears	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000356	HP:0000378	Cupped ear	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000356	HP:0000394	Lop ear	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000356	HP:0000357	Abnormal location of ears	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0000356	HP:0011039	Abnormal helix morphology	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0000356	HP:0000357	Abnormal location of ears	2	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies		9
HP:0000356	HP:0000357	Abnormal location of ears	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0000356	HP:0000411	Protruding ear	2	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent	9
HP:0000356	HP:0008572	External ear malformation	2	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	7
HP:0000356	HP:0008572	External ear malformation	2	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0000356	HP:0000357	Abnormal location of ears	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000356	HP:0000357	Abnormal location of ears	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0000356	HP:0000357	Abnormal location of ears	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0000356	HP:0000357	Abnormal location of ears	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0000356	HP:0000357	Abnormal location of ears	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0000356	HP:0000357	Abnormal location of ears	2	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0000356	HP:0000357	Abnormal location of ears	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0000356	HP:0000400	Macrotia	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0000356	HP:0000357	Abnormal location of ears	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0000356	HP:0000411	Protruding ear	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0000356	HP:0000400	Macrotia	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0000356	HP:0000357	Abnormal location of ears	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000356	HP:0000411	Protruding ear	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000356	HP:0000357	Abnormal location of ears	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000356	HP:0000357	Abnormal location of ears	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000356	HP:0000357	Abnormal location of ears	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000356	HP:0000378	Cupped ear	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000356	HP:0000400	Macrotia	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000356	HP:0004459	Exostosis of the external auditory canal	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000356	HP:0000400	Macrotia	2	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:0000356	HP:0000357	Abnormal location of ears	2	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0000356	HP:0000357	Abnormal location of ears	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0000356	HP:0000357	Abnormal location of ears	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000356	HP:0000357	Abnormal location of ears	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0000356	HP:0000400	Macrotia	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0000356	HP:0000357	Abnormal location of ears	2	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral		4
HP:0000356	HP:0000357	Abnormal location of ears	2	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1		4
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0000356	HP:0000400	Macrotia	2	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000356	HP:0000357	Abnormal location of ears	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000356	HP:0000400	Macrotia	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0000356	HP:0000357	Abnormal location of ears	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000356	HP:0011039	Abnormal helix morphology	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000356	HP:0011039	Abnormal helix morphology	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	222
HP:0000356	HP:0000400	Macrotia	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0000356	HP:0000411	Protruding ear	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0000356	HP:0000357	Abnormal location of ears	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000356	HP:0000400	Macrotia	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000356	HP:0011039	Abnormal helix morphology	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000356	HP:0000400	Macrotia	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0000356	HP:0000411	Protruding ear	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0000356	HP:0000357	Abnormal location of ears	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000356	HP:0000357	Abnormal location of ears	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0009896	Abnormal antitragus morphology	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0009912	Abnormal tragus morphology	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0000357	Abnormal location of ears	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0000356	HP:0000357	Abnormal location of ears	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0000356	HP:0000357	Abnormal location of ears	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0000356	HP:0000357	Abnormal location of ears	2	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant		141
HP:0000356	HP:0000357	Abnormal location of ears	2	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000356	HP:0000400	Macrotia	2	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0000356	HP:0000357	Abnormal location of ears	2	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		10
HP:0000356	HP:0000357	Abnormal location of ears	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000356	HP:0000400	Macrotia	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent	13
HP:0000356	HP:0000400	Macrotia	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0000356	HP:0009894	Thickened ears	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	13
HP:0000356	HP:0000357	Abnormal location of ears	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0000356	HP:0000400	Macrotia	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0000356	HP:0009894	Thickened ears	2	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	127
HP:0000356	HP:0000357	Abnormal location of ears	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0000356	HP:0000357	Abnormal location of ears	2	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0000356	HP:0000357	Abnormal location of ears	2	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0000356	HP:0000357	Abnormal location of ears	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000356	HP:0000411	Protruding ear	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0000356	HP:0000400	Macrotia	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0000356	HP:0009894	Thickened ears	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	7
HP:0000356	HP:0011039	Abnormal helix morphology	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0000356	HP:0011039	Abnormal helix morphology	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0000356	HP:0000357	Abnormal location of ears	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0000356	HP:0000378	Cupped ear	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0000356	HP:0000411	Protruding ear	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent	11
HP:0000356	HP:0009896	Abnormal antitragus morphology	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000356	HP:0009896	Abnormal antitragus morphology	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0000356	HP:0009912	Abnormal tragus morphology	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000356	HP:0009912	Abnormal tragus morphology	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0000356	HP:0400004	Long ear	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000356	HP:0000357	Abnormal location of ears	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000356	HP:0000400	Macrotia	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000356	HP:0000400	Macrotia	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000356	HP:0000411	Protruding ear	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000356	HP:0000411	Protruding ear	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0000356	HP:0000400	Macrotia	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	53
HP:0000356	HP:0000411	Protruding ear	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	53
HP:0000356	HP:0000357	Abnormal location of ears	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000356	HP:0000400	Macrotia	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0000356	HP:0000411	Protruding ear	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000356	HP:0000357	Abnormal location of ears	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000356	HP:0000378	Cupped ear	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	HP:0040283 - Occasional	53
HP:0000356	HP:0000400	Macrotia	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000356	HP:0000411	Protruding ear	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000356	HP:0000400	Macrotia	2	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0000356	HP:0000411	Protruding ear	2	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	4
HP:0000356	HP:0000357	Abnormal location of ears	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0000356	HP:0000357	Abnormal location of ears	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0000356	HP:0011039	Abnormal helix morphology	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0000356	HP:0000357	Abnormal location of ears	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0000356	HP:0000357	Abnormal location of ears	2	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0000356	HP:0000357	Abnormal location of ears	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0000356	HP:0000357	Abnormal location of ears	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000356	HP:0000411	Protruding ear	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0000356	HP:0000411	Protruding ear	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0000356	HP:0000357	Abnormal location of ears	2	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12		9
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000356	HP:0000357	Abnormal location of ears	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000356	HP:0000400	Macrotia	2	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0000356	HP:0008572	External ear malformation	2	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0000356	HP:0000357	Abnormal location of ears	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000356	HP:0000357	Abnormal location of ears	2	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0000356	HP:0000357	Abnormal location of ears	2	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0000356	HP:0000357	Abnormal location of ears	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0000356	HP:0000400	Macrotia	2	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000357	Abnormal location of ears	2	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0000356	HP:0000357	Abnormal location of ears	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0000356	HP:0000357	Abnormal location of ears	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0000356	HP:0000357	Abnormal location of ears	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome		91
HP:0000356	HP:0000357	Abnormal location of ears	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome		91
HP:0000356	HP:0000357	Abnormal location of ears	2	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0000356	HP:0000400	Macrotia	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	660
HP:0000356	HP:0000411	Protruding ear	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	660
HP:0000356	HP:0000357	Abnormal location of ears	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000356	HP:0000400	Macrotia	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0000356	HP:0000411	Protruding ear	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000356	HP:0000411	Protruding ear	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0000356	HP:0000357	Abnormal location of ears	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0000356	HP:0000400	Macrotia	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0000356	HP:0011039	Abnormal helix morphology	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0000356	HP:0000357	Abnormal location of ears	2	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2		196
HP:0000356	HP:0000357	Abnormal location of ears	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0000356	HP:0011039	Abnormal helix morphology	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0000356	HP:0000357	Abnormal location of ears	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000356	HP:0011039	Abnormal helix morphology	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000356	HP:0000357	Abnormal location of ears	2	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0000356	HP:0000400	Macrotia	2	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external 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:0000356	HP:0000357	Abnormal location of ears	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0000356	HP:0000411	Protruding ear	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	136
HP:0000356	HP:0000357	Abnormal location of ears	2	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome		16
HP:0000356	HP:0000357	Abnormal location of ears	2	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome		16
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome		8
HP:0000356	HP:0000357	Abnormal location of ears	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0000356	HP:0000357	Abnormal location of ears	2	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0000356	HP:0000357	Abnormal location of ears	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0000356	HP:0000411	Protruding ear	2	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.	6
HP:0000356	HP:0000357	Abnormal location of ears	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0000356	HP:0000357	Abnormal location of ears	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000356	HP:0000411	Protruding ear	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000356	HP:0000357	Abnormal location of ears	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0011039	Abnormal helix morphology	2	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	1
HP:0000356	HP:0000357	Abnormal location of ears	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0000356	HP:0000400	Macrotia	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000356	HP:0011039	Abnormal helix morphology	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0000356	HP:0000357	Abnormal location of ears	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0000356	HP:0000411	Protruding ear	2	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040283 - Occasional	44
HP:0000356	HP:0000357	Abnormal location of ears	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0000356	HP:0000357	Abnormal location of ears	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0000356	HP:0009901	Crumpled ear	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent	8
HP:0000356	HP:0009901	Crumpled ear	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0000356	HP:0011039	Abnormal helix morphology	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome		8
HP:0000356	HP:0000357	Abnormal location of ears	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000356	HP:0000357	Abnormal location of ears	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0000356	HP:0000411	Protruding ear	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0000356	HP:0000357	Abnormal location of ears	2	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant		3
HP:0000356	HP:0008572	External ear malformation	2	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0000356	HP:0000357	Abnormal location of ears	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0000356	HP:0000400	Macrotia	2	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000356	HP:0000357	Abnormal location of ears	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome		4
HP:0000356	HP:0000357	Abnormal location of ears	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0000356	HP:0011039	Abnormal helix morphology	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0000356	HP:0000357	Abnormal location of ears	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0000356	HP:0000357	Abnormal location of ears	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0000356	HP:0000357	Abnormal location of ears	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000356	HP:0000411	Protruding ear	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000356	HP:0000357	Abnormal location of ears	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0000356	HP:0008572	External ear malformation	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000356	HP:0000357	Abnormal location of ears	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000356	HP:0000357	Abnormal location of ears	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0000356	HP:0000357	Abnormal location of ears	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000356	HP:0008572	External ear malformation	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000356	HP:0000357	Abnormal location of ears	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0000356	HP:0000357	Abnormal location of ears	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0000356	HP:0000400	Macrotia	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent	93
HP:0000356	HP:0000357	Abnormal location of ears	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000356	HP:0000400	Macrotia	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000356	HP:0000400	Macrotia	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000356	HP:0000357	Abnormal location of ears	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000356	HP:0011039	Abnormal helix morphology	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000356	HP:0000357	Abnormal location of ears	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0000356	HP:0000400	Macrotia	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0000356	HP:0011039	Abnormal helix morphology	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0000356	HP:0000357	Abnormal location of ears	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000356	HP:0000357	Abnormal location of ears	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0000356	HP:0000400	Macrotia	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0000356	HP:0011039	Abnormal helix morphology	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0000356	HP:0000357	Abnormal location of ears	2	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0000356	HP:0011039	Abnormal helix morphology	2	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	178
HP:0000356	HP:0000357	Abnormal location of ears	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0000356	HP:0000357	Abnormal location of ears	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000357	Abnormal location of ears	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000356	HP:0000357	Abnormal location of ears	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000356	HP:0000411	Protruding ear	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000356	HP:0000357	Abnormal location of ears	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0000356	HP:0008572	External ear malformation	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0000356	HP:0000357	Abnormal location of ears	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000356	HP:0011039	Abnormal helix morphology	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000356	HP:0000357	Abnormal location of ears	2	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25		25
HP:0000356	HP:0000357	Abnormal location of ears	2	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0000356	HP:0000400	Macrotia	2	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0000356	HP:0000357	Abnormal location of ears	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000356	HP:0000378	Cupped ear	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0000356	HP:0000411	Protruding ear	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000356	HP:0000357	Abnormal location of ears	2	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0000356	HP:0000400	Macrotia	2	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0000356	HP:0000357	Abnormal location of ears	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0000356	HP:0000411	Protruding ear	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent	22
HP:0000356	HP:0000400	Macrotia	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0000356	HP:0000357	Abnormal location of ears	2	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8		2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8		2
HP:0000356	HP:0000357	Abnormal location of ears	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0000356	HP:0000357	Abnormal location of ears	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000356	HP:0000400	Macrotia	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000356	HP:0000400	Macrotia	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0000356	HP:0000378	Cupped ear	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0000356	HP:0000357	Abnormal location of ears	2	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome		228
HP:0000356	HP:0000357	Abnormal location of ears	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0000356	HP:0000411	Protruding ear	2	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	228
HP:0000356	HP:0011039	Abnormal helix morphology	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0000356	HP:0000357	Abnormal location of ears	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000356	HP:0000357	Abnormal location of ears	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0000356	HP:0000400	Macrotia	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0000356	HP:0000357	Abnormal location of ears	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0000356	HP:0000400	Macrotia	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.	74
HP:0000356	HP:0000357	Abnormal location of ears	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0000356	HP:0000357	Abnormal location of ears	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000356	HP:0000357	Abnormal location of ears	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0000356	HP:0000357	Abnormal location of ears	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000356	HP:0000357	Abnormal location of ears	2	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000356	HP:0000357	Abnormal location of ears	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0000356	HP:0000411	Protruding ear	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0000356	HP:0000357	Abnormal location of ears	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome		7
HP:0000356	HP:0000357	Abnormal location of ears	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0000356	HP:0000357	Abnormal location of ears	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000356	HP:0009901	Crumpled ear	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000356	HP:0000357	Abnormal location of ears	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000356	HP:0000357	Abnormal location of ears	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000400	Macrotia	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000411	Protruding ear	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000357	Abnormal location of ears	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000356	HP:0000400	Macrotia	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000356	HP:0000357	Abnormal location of ears	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0000356	HP:0000400	Macrotia	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000356	HP:0000357	Abnormal location of ears	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0000356	HP:0000400	Macrotia	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0000356	HP:0000357	Abnormal location of ears	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0000356	HP:0000357	Abnormal location of ears	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000356	HP:0000400	Macrotia	2	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101		7
HP:0000356	HP:0000400	Macrotia	2	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	3
HP:0000356	HP:0000357	Abnormal location of ears	2	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0000356	HP:0000357	Abnormal location of ears	2	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:0000356	HP:0000357	Abnormal location of ears	2	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome		69
HP:0000356	HP:0000357	Abnormal location of ears	2	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome		127
HP:0000356	HP:0000357	Abnormal location of ears	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0000356	HP:0000357	Abnormal location of ears	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0000356	HP:0000357	Abnormal location of ears	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0000356	HP:0000357	Abnormal location of ears	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0000356	HP:0000357	Abnormal location of ears	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000400	Macrotia	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000411	Protruding ear	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000356	HP:0000357	Abnormal location of ears	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0000356	HP:0000357	Abnormal location of ears	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0000356	HP:0000400	Macrotia	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0000356	HP:0000357	Abnormal location of ears	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000356	HP:0000357	Abnormal location of ears	2	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies		29
HP:0000356	HP:0000411	Protruding ear	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0000356	HP:0000400	Macrotia	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.	9
HP:0000356	HP:0000357	Abnormal location of ears	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000356	HP:0011039	Abnormal helix morphology	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000356	HP:0000357	Abnormal location of ears	2	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0000356	HP:0000357	Abnormal location of ears	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0000356	HP:0000357	Abnormal location of ears	2	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0000356	HP:0000357	Abnormal location of ears	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000356	HP:0000357	Abnormal location of ears	2	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5		25
HP:0000356	HP:0000357	Abnormal location of ears	2	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000356	HP:0410017	Otitis externa	2	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0000356	HP:0000357	Abnormal location of ears	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0000356	HP:0000357	Abnormal location of ears	2	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly		183
HP:0000356	HP:0000357	Abnormal location of ears	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0000356	HP:0000357	Abnormal location of ears	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0000356	HP:0000357	Abnormal location of ears	2	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria		150
HP:0000356	HP:0000357	Abnormal location of ears	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000356	HP:0000357	Abnormal location of ears	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0000356	HP:0000357	Abnormal location of ears	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0000356	HP:0000357	Abnormal location of ears	2	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A		166
HP:0000356	HP:0000411	Protruding ear	2	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	166
HP:0000356	HP:0100830	Round ear	2	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	166
HP:0000356	HP:0000357	Abnormal location of ears	2	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000356	HP:0000411	Protruding ear	2	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000356	HP:0000357	Abnormal location of ears	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0000356	HP:0000357	Abnormal location of ears	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000356	HP:0000357	Abnormal location of ears	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0000356	HP:0000357	Abnormal location of ears	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000356	HP:0000357	Abnormal location of ears	2	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0000356	HP:0000357	Abnormal location of ears	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000356	HP:0008572	External ear malformation	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0000356	HP:0000357	Abnormal location of ears	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0000356	HP:0011039	Abnormal helix morphology	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0000356	HP:0000357	Abnormal location of ears	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000356	HP:0000357	Abnormal location of ears	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0000356	HP:0000400	Macrotia	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0000356	HP:0000400	Macrotia	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0000356	HP:0000411	Protruding ear	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000356	HP:0000357	Abnormal location of ears	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000356	HP:0000357	Abnormal location of ears	2	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0000356	HP:0000400	Macrotia	2	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0000356	HP:0000357	Abnormal location of ears	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0000356	HP:0000411	Protruding ear	2	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	48
HP:0000356	HP:0100830	Round ear	2	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	48
HP:0000356	HP:0000357	Abnormal location of ears	2	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000356	HP:0000400	Macrotia	2	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000356	HP:0011039	Abnormal helix morphology	2	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000356	HP:0009894	Thickened ears	2	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	34
HP:0000356	HP:0000400	Macrotia	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0000356	HP:0000400	Macrotia	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0000356	HP:0000357	Abnormal location of ears	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000356	HP:0000400	Macrotia	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000356	HP:0000411	Protruding ear	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000356	HP:0000357	Abnormal location of ears	2	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		96
HP:0000356	HP:0000400	Macrotia	2	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0000356	HP:0000400	Macrotia	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent	39
HP:0000356	HP:0000411	Protruding ear	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0000356	HP:0011039	Abnormal helix morphology	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0000356	HP:0000411	Protruding ear	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0000356	HP:0000357	Abnormal location of ears	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0000356	HP:0000357	Abnormal location of ears	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0000356	HP:0000357	Abnormal location of ears	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0000356	HP:0000400	Macrotia	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040281 - Very frequent	4
HP:0000356	HP:0000411	Protruding ear	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0000356	HP:0000411	Protruding ear	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0000356	HP:0000357	Abnormal location of ears	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0000356	HP:0000357	Abnormal location of ears	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0000356	HP:0000357	Abnormal location of ears	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0000356	HP:0000400	Macrotia	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000356	HP:0000357	Abnormal location of ears	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0000356	HP:0000411	Protruding ear	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0000356	HP:0000357	Abnormal location of ears	2	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome		1952
HP:0000356	HP:0000357	Abnormal location of ears	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0000356	HP:0011039	Abnormal helix morphology	2	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	1952
HP:0000356	HP:0000357	Abnormal location of ears	2	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0000356	HP:0000357	Abnormal location of ears	2	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0000356	HP:0000357	Abnormal location of ears	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0000356	HP:0000357	Abnormal location of ears	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000356	HP:0011039	Abnormal helix morphology	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000356	HP:0000357	Abnormal location of ears	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000356	HP:0000400	Macrotia	2	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.	88
HP:0000356	HP:0000411	Protruding ear	2	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040282 - Frequent	88
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type		55
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7		55
HP:0000356	HP:0011039	Abnormal helix morphology	2	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	60
HP:0000356	HP:0000357	Abnormal location of ears	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000356	HP:0000400	Macrotia	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0000356	HP:0000357	Abnormal location of ears	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0000356	HP:0011039	Abnormal helix morphology	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0000356	HP:0000411	Protruding ear	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000356	HP:0000357	Abnormal location of ears	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0000356	HP:0000357	Abnormal location of ears	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0000356	HP:0000357	Abnormal location of ears	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0000356	HP:0000357	Abnormal location of ears	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0000356	HP:0000357	Abnormal location of ears	2	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome		85
HP:0000356	HP:0000357	Abnormal location of ears	2	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000356	HP:0000411	Protruding ear	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000356	HP:0011039	Abnormal helix morphology	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000356	HP:0000411	Protruding ear	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0000356	HP:0011039	Abnormal helix morphology	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0000356	HP:0000357	Abnormal location of ears	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0000356	HP:0011039	Abnormal helix morphology	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0000356	HP:0000357	Abnormal location of ears	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0000356	HP:0000357	Abnormal location of ears	2	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000356	HP:0000357	Abnormal location of ears	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000356	HP:0000400	Macrotia	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000356	HP:0000357	Abnormal location of ears	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0000356	HP:0000400	Macrotia	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	544
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000356	HP:0000411	Protruding ear	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000356	HP:0011039	Abnormal helix morphology	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000356	HP:0000357	Abnormal location of ears	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0000356	HP:0000357	Abnormal location of ears	2	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome		34
HP:0000356	HP:0000357	Abnormal location of ears	2	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome		34
HP:0000356	HP:0000357	Abnormal location of ears	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000356	HP:0000411	Protruding ear	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000356	HP:0020206	Simple ear	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000356	HP:0000357	Abnormal location of ears	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0000356	HP:0000411	Protruding ear	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000356	HP:0000357	Abnormal location of ears	2	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000356	HP:0000400	Macrotia	2	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent	5
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome		5
HP:0000356	HP:0000400	Macrotia	2	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent	1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome		1
HP:0000356	HP:0000357	Abnormal location of ears	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000356	HP:0009912	Abnormal tragus morphology	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0000356	HP:0000357	Abnormal location of ears	2	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0000356	HP:0000357	Abnormal location of ears	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0000356	HP:0000411	Protruding ear	2	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0000356	HP:0000411	Protruding ear	2	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:0000356	HP:0000357	Abnormal location of ears	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0000356	HP:0000357	Abnormal location of ears	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0000356	HP:0000411	Protruding ear	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0000356	HP:0000378	Cupped ear	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0000356	HP:0000400	Macrotia	2	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:0000356	HP:0000357	Abnormal location of ears	2	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0000356	HP:0000357	Abnormal location of ears	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0000356	HP:0000357	Abnormal location of ears	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0000356	HP:0000357	Abnormal location of ears	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0000356	HP:0000357	Abnormal location of ears	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0000356	HP:0000400	Macrotia	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0000356	HP:0000357	Abnormal location of ears	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	53
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0000356	HP:0000357	Abnormal location of ears	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0000356	HP:0000357	Abnormal location of ears	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	21
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0000356	HP:0000357	Abnormal location of ears	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	39
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0000356	HP:0000357	Abnormal location of ears	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0000356	HP:0000400	Macrotia	2	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0000356	HP:0000357	Abnormal location of ears	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000356	HP:0000357	Abnormal location of ears	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome		4
HP:0000356	HP:0000400	Macrotia	2	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:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	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:0000356	HP:0000357	Abnormal location of ears	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0000356	HP:0000400	Macrotia	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0000356	HP:0000411	Protruding ear	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.	4
HP:0000356	HP:0000357	Abnormal location of ears	2	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0000356	HP:0000357	Abnormal location of ears	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0000356	HP:0000400	Macrotia	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0000356	HP:0000411	Protruding ear	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent	24
HP:0000356	HP:0000357	Abnormal location of ears	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0000356	HP:0000400	Macrotia	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0000356	HP:0000357	Abnormal location of ears	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome		231
HP:0000356	HP:0011039	Abnormal helix morphology	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0000356	HP:0000357	Abnormal location of ears	2	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000356	HP:0000400	Macrotia	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000356	HP:0008572	External ear malformation	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0000356	HP:0000357	Abnormal location of ears	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0000356	HP:0000400	Macrotia	2	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	3
HP:0000356	HP:0000411	Protruding ear	2	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	3
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040283 - Occasional	3
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040282 - Frequent	3
HP:0000356	HP:0000357	Abnormal location of ears	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000356	HP:0000378	Cupped ear	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000356	HP:0000357	Abnormal location of ears	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000356	HP:0000357	Abnormal location of ears	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:0000356	HP:0008772	Aplasia/Hypoplasia of the external 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:0000356	HP:0011039	Abnormal helix morphology	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:0000356	HP:0000357	Abnormal location of ears	2	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000356	HP:0000357	Abnormal location of ears	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3		6
HP:0000356	HP:0000400	Macrotia	2	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0000356	HP:0000357	Abnormal location of ears	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	531
HP:0000356	HP:0000357	Abnormal location of ears	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0000356	HP:0000357	Abnormal location of ears	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0000356	HP:0000357	Abnormal location of ears	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000356	HP:0011039	Abnormal helix morphology	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000356	HP:0008572	External ear malformation	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	169
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)		75
HP:0000356	HP:0008572	External ear malformation	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	75
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0000356	HP:0008572	External ear malformation	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	4
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)		65
HP:0000356	HP:0008572	External ear malformation	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	65
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0000356	HP:0008572	External ear malformation	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	66
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0000356	HP:0008572	External ear malformation	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	46
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0000356	HP:0008572	External ear malformation	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	59
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0000356	HP:0008572	External ear malformation	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	62
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0000356	HP:0011039	Abnormal helix morphology	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0000356	HP:0008572	External ear malformation	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	82
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0000356	HP:0008572	External ear malformation	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	106
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0000356	HP:0008572	External ear malformation	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	47
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0000356	HP:0011039	Abnormal helix morphology	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B		99
HP:0000356	HP:0008572	External ear malformation	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	99
HP:0000356	HP:0000357	Abnormal location of ears	2	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0000356	HP:0008572	External ear malformation	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	98
HP:0000356	HP:0000400	Macrotia	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000356	HP:0000378	Cupped ear	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000356	HP:0011039	Abnormal helix morphology	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0000356	HP:0000378	Cupped ear	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0000356	HP:0011039	Abnormal helix morphology	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0000356	HP:0000357	Abnormal location of ears	2	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0000356	HP:0000400	Macrotia	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0000356	HP:0000400	Macrotia	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0000356	HP:0000400	Macrotia	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0000356	HP:0000400	Macrotia	2	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0000356	HP:0000357	Abnormal location of ears	2	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0000356	HP:0000357	Abnormal location of ears	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0000356	HP:0000378	Cupped ear	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.	36
HP:0000356	HP:0000411	Protruding ear	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0000356	HP:0000400	Macrotia	2	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0000356	HP:0000357	Abnormal location of ears	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0000356	HP:0000357	Abnormal location of ears	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0000356	HP:0011039	Abnormal helix morphology	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0000356	HP:0000357	Abnormal location of ears	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000356	HP:0011039	Abnormal helix morphology	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000356	HP:0000357	Abnormal location of ears	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0000356	HP:0009896	Abnormal antitragus morphology	2	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000356	HP:0000378	Cupped ear	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0000356	HP:0011039	Abnormal helix morphology	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0000356	HP:0011039	Abnormal helix morphology	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0000356	HP:0000357	Abnormal location of ears	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0000356	HP:0000400	Macrotia	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000356	HP:0009912	Abnormal tragus morphology	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000356	HP:0011039	Abnormal helix morphology	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000356	HP:0000357	Abnormal location of ears	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0000356	HP:0000378	Cupped ear	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000356	HP:0000400	Macrotia	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0000356	HP:0011039	Abnormal helix morphology	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0000356	HP:0000378	Cupped ear	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0000356	HP:0011039	Abnormal helix morphology	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000356	HP:0000357	Abnormal location of ears	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000356	HP:0011039	Abnormal helix morphology	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000356	HP:0000357	Abnormal location of ears	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0000356	HP:0000357	Abnormal location of ears	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0000356	HP:0000357	Abnormal location of ears	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000356	HP:0000357	Abnormal location of ears	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0000356	HP:0000378	Cupped ear	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0000356	HP:0011039	Abnormal helix morphology	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0000356	HP:0000378	Cupped ear	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0000356	HP:0011039	Abnormal helix morphology	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0000356	HP:0009894	Thickened ears	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0000356	HP:0000378	Cupped ear	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000356	HP:0011039	Abnormal helix morphology	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome		162
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome		162
HP:0000356	HP:0000411	Protruding ear	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0000356	HP:0008572	External ear malformation	2	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	43
HP:0000356	HP:0000400	Macrotia	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0000356	HP:0000357	Abnormal location of ears	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:0000356	HP:0000357	Abnormal location of ears	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0000356	HP:0000357	Abnormal location of ears	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0000356	HP:0000357	Abnormal location of ears	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0000356	HP:0000357	Abnormal location of ears	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0000356	HP:0008572	External ear malformation	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent	82
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0000356	HP:0011039	Abnormal helix morphology	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0000356	HP:0030022	Question mark ear	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0000356	HP:0000357	Abnormal location of ears	2	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0000356	HP:0011039	Abnormal helix morphology	2	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0000356	HP:0000357	Abnormal location of ears	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000356	HP:0000400	Macrotia	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0000356	HP:0000411	Protruding ear	2	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	11
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	11
HP:0000356	HP:0000357	Abnormal location of ears	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0000356	HP:0000357	Abnormal location of ears	2	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000356	HP:0000378	Cupped ear	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000356	HP:0000400	Macrotia	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0000356	HP:0000400	Macrotia	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0000356	HP:0000357	Abnormal location of ears	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0000356	HP:0009896	Abnormal antitragus morphology	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040281 - Very frequent	103
HP:0000356	HP:0000357	Abnormal location of ears	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0000356	HP:0000357	Abnormal location of ears	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000356	HP:0000357	Abnormal location of ears	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0000356	HP:0000411	Protruding ear	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type		2
HP:0000356	HP:0000357	Abnormal location of ears	2	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome		1129
HP:0000356	HP:0000357	Abnormal location of ears	2	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external 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:0000356	HP:0000400	Macrotia	2	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.	8
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3		38
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0000356	HP:0000357	Abnormal location of ears	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000356	HP:0000357	Abnormal location of ears	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000356	HP:0000357	Abnormal location of ears	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0000356	HP:0000411	Protruding ear	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	180
HP:0000356	HP:0000357	Abnormal location of ears	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0000356	HP:0000411	Protruding ear	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	33
HP:0000356	HP:0000357	Abnormal location of ears	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0000356	HP:0000411	Protruding ear	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	18
HP:0000356	HP:0000357	Abnormal location of ears	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external 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:0000356	HP:0000357	Abnormal location of ears	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0000356	HP:0000411	Protruding ear	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	213
HP:0000356	HP:0000357	Abnormal location of ears	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external 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:0000356	HP:0000357	Abnormal location of ears	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0000356	HP:0000411	Protruding ear	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	221
HP:0000356	HP:0020206	Simple ear	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000356	HP:0000357	Abnormal location of ears	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000356	HP:0000357	Abnormal location of ears	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0000356	HP:0000357	Abnormal location of ears	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000356	HP:0000378	Cupped ear	2	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000356	HP:0000411	Protruding ear	2	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000356	HP:0400005	Short ear	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0000356	HP:0000357	Abnormal location of ears	2	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0000356	HP:0000357	Abnormal location of ears	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0000356	HP:0000400	Macrotia	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent	9
HP:0000356	HP:0000357	Abnormal location of ears	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000356	HP:0011039	Abnormal helix morphology	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000356	HP:0000357	Abnormal location of ears	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000356	HP:0000411	Protruding ear	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000356	HP:0000400	Macrotia	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0000356	HP:0000400	Macrotia	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0000356	HP:0000357	Abnormal location of ears	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000356	HP:0000357	Abnormal location of ears	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000356	HP:0011039	Abnormal helix morphology	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000356	HP:0000357	Abnormal location of ears	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0000356	HP:0000378	Cupped ear	2	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent	28
HP:0000356	HP:0000378	Cupped ear	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000356	HP:0000400	Macrotia	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000356	HP:0000411	Protruding ear	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0000356	HP:0000378	Cupped ear	2	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040281 - Very frequent	28
HP:0000356	HP:0000411	Protruding ear	2	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040281 - Very frequent	28
HP:0000356	HP:0000378	Cupped ear	2	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent	28
HP:0000356	HP:0000400	Macrotia	2	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent	28
HP:0000356	HP:0000400	Macrotia	2	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040283 - Occasional	28
HP:0000356	HP:0000357	Abnormal location of ears	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000356	HP:0000357	Abnormal location of ears	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000356	HP:0000400	Macrotia	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000356	HP:0000357	Abnormal location of ears	2	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0000356	HP:0000357	Abnormal location of ears	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000356	HP:0000357	Abnormal location of ears	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000356	HP:0000357	Abnormal location of ears	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0000356	HP:0000357	Abnormal location of ears	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000356	HP:0000357	Abnormal location of ears	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000356	HP:0000357	Abnormal location of ears	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0000356	HP:0000357	Abnormal location of ears	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000356	HP:0000378	Cupped ear	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000356	HP:0000357	Abnormal location of ears	2	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0000356	HP:0000357	Abnormal location of ears	2	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0000356	HP:0000400	Macrotia	2	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0000356	HP:0000411	Protruding ear	2	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0000356	HP:0000357	Abnormal location of ears	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0000356	HP:0000357	Abnormal location of ears	2	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0000356	HP:0000400	Macrotia	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.	20
HP:0000356	HP:0100830	Round ear	2	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0000356	HP:0000357	Abnormal location of ears	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000356	HP:0000400	Macrotia	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000356	HP:0000357	Abnormal location of ears	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0000356	HP:0009894	Thickened ears	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent	665
HP:0000356	HP:0000400	Macrotia	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0000356	HP:0000400	Macrotia	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0000356	HP:0000400	Macrotia	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0000356	HP:0000357	Abnormal location of ears	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0000356	HP:0000357	Abnormal location of ears	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0000356	HP:0000400	Macrotia	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0000356	HP:0000357	Abnormal location of ears	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0000356	HP:0000357	Abnormal location of ears	2	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome		22
HP:0000356	HP:0000357	Abnormal location of ears	2	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia		58
HP:0000356	HP:0000357	Abnormal location of ears	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0000356	HP:0000411	Protruding ear	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0000356	HP:0000357	Abnormal location of ears	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0000356	HP:0011039	Abnormal helix morphology	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0000356	HP:0000357	Abnormal location of ears	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000356	HP:0000357	Abnormal location of ears	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0000356	HP:0000357	Abnormal location of ears	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0000356	HP:0000357	Abnormal location of ears	2	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47		1
HP:0000356	HP:0008572	External ear malformation	2	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:0000356	HP:0000357	Abnormal location of ears	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		53
HP:0000356	HP:0000357	Abnormal location of ears	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000356	HP:0000411	Protruding ear	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000356	HP:0000411	Protruding ear	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0000356	HP:0000357	Abnormal location of ears	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0000356	HP:0011039	Abnormal helix morphology	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0000356	HP:0000357	Abnormal location of ears	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10		11
HP:0000356	HP:0000357	Abnormal location of ears	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0000356	HP:0000400	Macrotia	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0000356	HP:0000411	Protruding ear	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent	11
HP:0000356	HP:0011039	Abnormal helix morphology	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0000356	HP:0000357	Abnormal location of ears	2	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0000356	HP:0000357	Abnormal location of ears	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000356	HP:0000378	Cupped ear	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000356	HP:0000400	Macrotia	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000356	HP:0000357	Abnormal location of ears	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0000356	HP:0000400	Macrotia	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0000356	HP:0000400	Macrotia	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0000356	HP:0000357	Abnormal location of ears	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000356	HP:0000357	Abnormal location of ears	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040283 - Occasional	90
HP:0000356	HP:0000400	Macrotia	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0000356	HP:0000357	Abnormal location of ears	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0000356	HP:0000400	Macrotia	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0000356	HP:0000357	Abnormal location of ears	2	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0000356	HP:0000400	Macrotia	2	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.	90
HP:0000356	HP:0000357	Abnormal location of ears	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040283 - Occasional	135
HP:0000356	HP:0000357	Abnormal location of ears	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0000356	HP:0009896	Abnormal antitragus morphology	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0000356	HP:0000357	Abnormal location of ears	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0000356	HP:0000400	Macrotia	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0000356	HP:0000357	Abnormal location of ears	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0000356	HP:0000400	Macrotia	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0000356	HP:0000357	Abnormal location of ears	2	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000356	HP:0000357	Abnormal location of ears	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	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:0000356	HP:0000357	Abnormal location of ears	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000356	HP:0000400	Macrotia	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0000356	HP:0000357	Abnormal location of ears	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0000356	HP:0008572	External ear malformation	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0000356	HP:0008572	External ear malformation	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0000356	HP:0000357	Abnormal location of ears	2	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000356	HP:0000357	Abnormal location of ears	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0000356	HP:0011039	Abnormal helix morphology	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0000356	HP:0000357	Abnormal location of ears	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000356	HP:0011039	Abnormal helix morphology	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000356	HP:0000357	Abnormal location of ears	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0000356	HP:0000357	Abnormal location of ears	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome		150
HP:0000356	HP:0000357	Abnormal location of ears	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000356	HP:0000357	Abnormal location of ears	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000356	HP:0000357	Abnormal location of ears	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0000356	HP:0000357	Abnormal location of ears	2	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0000356	HP:0000357	Abnormal location of ears	2	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome		9
HP:0000356	HP:0000357	Abnormal location of ears	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0000356	HP:0011039	Abnormal helix morphology	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0000356	HP:0000357	Abnormal location of ears	2	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14		365
HP:0000356	HP:0000411	Protruding ear	2	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent	365
HP:0000356	HP:0011039	Abnormal helix morphology	2	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14		365
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	68
HP:0000356	HP:0000357	Abnormal location of ears	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0000356	HP:0000357	Abnormal location of ears	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0000356	HP:0000357	Abnormal location of ears	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0000356	HP:0000400	Macrotia	2	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000356	HP:0000357	Abnormal location of ears	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		2
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		2
HP:0000356	HP:0000400	Macrotia	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000356	HP:0000357	Abnormal location of ears	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000356	HP:0011039	Abnormal helix morphology	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000356	HP:0000357	Abnormal location of ears	2	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type		334
HP:0000356	HP:0000357	Abnormal location of ears	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000356	HP:0000357	Abnormal location of ears	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000356	HP:0000357	Abnormal location of ears	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000356	HP:0000357	Abnormal location of ears	2	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral		572
HP:0000356	HP:0000357	Abnormal location of ears	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0008572	External ear malformation	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000356	HP:0000400	Macrotia	2	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.	1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000356	HP:0000357	Abnormal location of ears	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000356	HP:0000378	Cupped ear	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	HP:0040283 - Occasional	69
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000356	HP:0000357	Abnormal location of ears	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0000356	HP:0000357	Abnormal location of ears	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0000356	HP:0011039	Abnormal helix morphology	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0000356	HP:0000357	Abnormal location of ears	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0000356	HP:0000357	Abnormal location of ears	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0000356	HP:0000400	Macrotia	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0000356	HP:0000357	Abnormal location of ears	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0000356	HP:0000357	Abnormal location of ears	2	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0000356	HP:0000357	Abnormal location of ears	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0000356	HP:0000357	Abnormal location of ears	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0000356	HP:0000411	Protruding ear	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000356	HP:0000357	Abnormal location of ears	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0000356	HP:0009912	Abnormal tragus morphology	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040282 - Frequent	15
HP:0000356	HP:0000357	Abnormal location of ears	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0000356	HP:0000357	Abnormal location of ears	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0000356	HP:0000357	Abnormal location of ears	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0000356	HP:0000357	Abnormal location of ears	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0000356	HP:0000357	Abnormal location of ears	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0000356	HP:0000357	Abnormal location of ears	2	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0000356	HP:0000357	Abnormal location of ears	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0000356	HP:0000411	Protruding ear	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000356	HP:0000357	Abnormal location of ears	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0000356	HP:0000400	Macrotia	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent	10
HP:0000356	HP:0000411	Protruding ear	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0000356	HP:0000411	Protruding ear	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent	10
HP:0000356	HP:0000357	Abnormal location of ears	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0000356	HP:0000357	Abnormal location of ears	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000356	HP:0000357	Abnormal location of ears	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0000357	Abnormal location of ears	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0000356	HP:0000357	Abnormal location of ears	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000357	Abnormal location of ears	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0000357	Abnormal location of ears	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0000357	Abnormal location of ears	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0000356	HP:0000357	Abnormal location of ears	2	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0000356	HP:0000357	Abnormal location of ears	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000356	HP:0011039	Abnormal helix morphology	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000356	HP:0000411	Protruding ear	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent	65
HP:0000356	HP:0000411	Protruding ear	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000356	HP:0000357	Abnormal location of ears	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0000356	HP:0000357	Abnormal location of ears	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000356	HP:0011039	Abnormal helix morphology	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0000356	HP:0011039	Abnormal helix morphology	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0000356	HP:0000357	Abnormal location of ears	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0011039	Abnormal helix morphology	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0000356	HP:0000357	Abnormal location of ears	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000356	HP:0000357	Abnormal location of ears	2	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000356	HP:0000357	Abnormal location of ears	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000356	HP:0011039	Abnormal helix morphology	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000356	HP:0000357	Abnormal location of ears	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0000356	HP:0000357	Abnormal location of ears	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000356	HP:0000411	Protruding ear	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000411	Protruding ear	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0000356	HP:0000357	Abnormal location of ears	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0000356	HP:0008572	External ear malformation	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000356	HP:0009912	Abnormal tragus morphology	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000356	HP:0011039	Abnormal helix morphology	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000356	HP:0000394	Lop ear	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000356	HP:0000400	Macrotia	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000356	HP:0011039	Abnormal helix morphology	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000356	HP:0030676	Satyr ear	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000356	HP:0008572	External ear malformation	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000356	HP:0000357	Abnormal location of ears	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0000356	HP:0000357	Abnormal location of ears	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000356	HP:0000357	Abnormal location of ears	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome		34
HP:0000356	HP:0000357	Abnormal location of ears	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0000356	HP:0000357	Abnormal location of ears	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0000356	HP:0000357	Abnormal location of ears	2	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000356	HP:0000411	Protruding ear	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0000356	HP:0011039	Abnormal helix morphology	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000356	HP:0000357	Abnormal location of ears	2	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000356	HP:0000378	Cupped ear	2	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000356	HP:0011039	Abnormal helix morphology	2	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000356	HP:0000357	Abnormal location of ears	2	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000356	HP:0000357	Abnormal location of ears	2	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome		61
HP:0000356	HP:0011039	Abnormal helix morphology	2	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	2
HP:0000356	HP:0000357	Abnormal location of ears	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0011039	Abnormal helix morphology	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000356	HP:0008572	External ear malformation	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	16
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000356	HP:0011039	Abnormal helix morphology	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000356	HP:0000357	Abnormal location of ears	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0000356	HP:0000357	Abnormal location of ears	2	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0000356	HP:0000357	Abnormal location of ears	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000356	HP:0000400	Macrotia	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.	1
HP:0000356	HP:0000357	Abnormal location of ears	2	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome		143
HP:0000356	HP:0000357	Abnormal location of ears	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0000356	HP:0000357	Abnormal location of ears	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000356	HP:0000357	Abnormal location of ears	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0000356	HP:0011039	Abnormal helix morphology	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0000356	HP:0000357	Abnormal location of ears	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000356	HP:0000357	Abnormal location of ears	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0000356	HP:0000357	Abnormal location of ears	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000356	HP:0008605	Unilateral external ear deformity	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000356	HP:0009912	Abnormal tragus morphology	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000356	HP:0000357	Abnormal location of ears	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type		49
HP:0000356	HP:0000357	Abnormal location of ears	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent	49
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0000356	HP:0000357	Abnormal location of ears	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000356	HP:0000411	Protruding ear	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000356	HP:0000411	Protruding ear	2	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent	134
HP:0000356	HP:0020206	Simple ear	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000356	HP:0000400	Macrotia	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent	53
HP:0000356	HP:0000400	Macrotia	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000356	HP:0000411	Protruding ear	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.	53
HP:0000356	HP:0000357	Abnormal location of ears	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0000356	HP:0000400	Macrotia	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent	74
HP:0000356	HP:0000357	Abnormal location of ears	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000356	HP:0000357	Abnormal location of ears	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000356	HP:0000357	Abnormal location of ears	2	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome		40
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome		40
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000356	HP:0000378	Cupped ear	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0000356	HP:0000400	Macrotia	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0000356	HP:0000411	Protruding ear	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000356	HP:0011039	Abnormal helix morphology	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0000356	HP:0008572	External ear malformation	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	50
HP:0000356	HP:0000378	Cupped ear	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000356	HP:0000357	Abnormal location of ears	2	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia		2
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10
HP:0000356	HP:0008572	External ear malformation	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10
HP:0000356	HP:0000357	Abnormal location of ears	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000356	HP:0000357	Abnormal location of ears	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000356	HP:0000357	Abnormal location of ears	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0000356	HP:0000411	Protruding ear	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0000356	HP:0000357	Abnormal location of ears	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000356	HP:0000400	Macrotia	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0000356	HP:0000400	Macrotia	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0000356	HP:0011039	Abnormal helix morphology	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		4
HP:0000356	HP:0000411	Protruding ear	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0000356	HP:0011039	Abnormal helix morphology	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0000356	HP:0008608	Hypertrophic auricular cartilage	2	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0000356	HP:0010723	Cystic lesions of the pinnae	2	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0000356	HP:0011039	Abnormal helix morphology	2	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0000356	HP:0000400	Macrotia	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0000356	HP:0000400	Macrotia	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0000356	HP:0000400	Macrotia	2	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.	12
HP:0000356	HP:0000400	Macrotia	2	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:0000356	HP:0011039	Abnormal helix morphology	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0000356	HP:0000357	Abnormal location of ears	2	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0000356	HP:0000400	Macrotia	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent	93
HP:0000356	HP:0000400	Macrotia	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93
HP:0000356	HP:0008572	External ear malformation	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0000356	HP:0000357	Abnormal location of ears	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0000356	HP:0000357	Abnormal location of ears	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0000356	HP:0000357	Abnormal location of ears	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0000356	HP:0000357	Abnormal location of ears	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000356	HP:0000400	Macrotia	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000356	HP:0000357	Abnormal location of ears	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000356	HP:0020206	Simple ear	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000356	HP:0000357	Abnormal location of ears	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000356	HP:0000400	Macrotia	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0000356	HP:0000357	Abnormal location of ears	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000356	HP:0011039	Abnormal helix morphology	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000356	HP:0000357	Abnormal location of ears	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000356	HP:0000400	Macrotia	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0000356	HP:0000357	Abnormal location of ears	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000356	HP:0009912	Abnormal tragus morphology	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000356	HP:0000357	Abnormal location of ears	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000356	HP:0000400	Macrotia	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000356	HP:0000357	Abnormal location of ears	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0000356	HP:0000357	Abnormal location of ears	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0000356	HP:0000357	Abnormal location of ears	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000356	HP:0000411	Protruding ear	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000356	HP:0000357	Abnormal location of ears	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0000356	HP:0000378	Cupped ear	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0000356	HP:0011039	Abnormal helix morphology	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0000356	HP:0000357	Abnormal location of ears	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0000356	HP:0000400	Macrotia	2	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040283 - Occasional	94
HP:0000356	HP:0000357	Abnormal location of ears	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent	6
HP:0000356	HP:0000357	Abnormal location of ears	2	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0000356	HP:0000357	Abnormal location of ears	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0000356	HP:0000411	Protruding ear	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000356	HP:0000357	Abnormal location of ears	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000356	HP:0000411	Protruding ear	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000356	HP:0000357	Abnormal location of ears	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0000356	HP:0011039	Abnormal helix morphology	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0000356	HP:0000357	Abnormal location of ears	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000356	HP:0011039	Abnormal helix morphology	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000356	HP:0000357	Abnormal location of ears	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0000356	HP:0011039	Abnormal helix morphology	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040282 - Frequent	26
HP:0000356	HP:0000357	Abnormal location of ears	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0000356	HP:0000357	Abnormal location of ears	2	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0000356	HP:0000357	Abnormal location of ears	2	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome		11
HP:0000356	HP:0000357	Abnormal location of ears	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000356	HP:0000400	Macrotia	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000356	HP:0000357	Abnormal location of ears	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0000356	HP:0000357	Abnormal location of ears	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000356	HP:0000357	Abnormal location of ears	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0000356	HP:0000357	Abnormal location of ears	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0000356	HP:0011039	Abnormal helix morphology	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0000356	HP:0000411	Protruding ear	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0000356	HP:0000357	Abnormal location of ears	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000356	HP:0000357	Abnormal location of ears	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000356	HP:0000357	Abnormal location of ears	2	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0000356	HP:0011039	Abnormal helix morphology	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000356	HP:0000357	Abnormal location of ears	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000356	HP:0000411	Protruding ear	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000356	HP:0000357	Abnormal location of ears	2	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0000356	HP:0000357	Abnormal location of ears	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000356	HP:0011039	Abnormal helix morphology	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000356	HP:0000378	Cupped ear	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000356	HP:0000411	Protruding ear	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000356	HP:0000411	Protruding ear	2	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0000356	HP:0000357	Abnormal location of ears	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000356	HP:0000357	Abnormal location of ears	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000356	HP:0000357	Abnormal location of ears	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0000356	HP:0000357	Abnormal location of ears	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0000356	HP:0000400	Macrotia	2	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0000356	HP:0000400	Macrotia	2	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040281 - Very frequent	12
HP:0000356	HP:0000357	Abnormal location of ears	2	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch		14
HP:0000356	HP:0000357	Abnormal location of ears	2	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome		9
HP:0000356	HP:0000357	Abnormal location of ears	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000356	HP:0000357	Abnormal location of ears	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0000356	HP:0000357	Abnormal location of ears	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0000356	HP:0000400	Macrotia	2	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000356	HP:0011039	Abnormal helix morphology	2	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000356	HP:0000357	Abnormal location of ears	2	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome		71
HP:0000356	HP:0000357	Abnormal location of ears	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0000356	HP:0400004	Long ear	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0000356	HP:0000357	Abnormal location of ears	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0000356	HP:0000357	Abnormal location of ears	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0000356	HP:0011039	Abnormal helix morphology	2	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	4
HP:0000356	HP:0000400	Macrotia	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0000356	HP:0000357	Abnormal location of ears	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000356	HP:0000378	Cupped ear	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000356	HP:0011039	Abnormal helix morphology	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000356	HP:0000357	Abnormal location of ears	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0000356	HP:0000400	Macrotia	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000400	Macrotia	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0000356	HP:0000357	Abnormal location of ears	2	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy		108
HP:0000356	HP:0000400	Macrotia	2	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0000356	HP:0000357	Abnormal location of ears	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0000356	HP:0000357	Abnormal location of ears	2	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome		11
HP:0000356	HP:0000357	Abnormal location of ears	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000356	HP:0000400	Macrotia	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000356	HP:0000411	Protruding ear	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000356	HP:0009894	Thickened ears	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000356	HP:0011039	Abnormal helix morphology	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000356	HP:0000357	Abnormal location of ears	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:0000356	HP:0000411	Protruding ear	2	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:0000356	HP:0000400	Macrotia	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0000356	HP:0000357	Abnormal location of ears	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0000356	HP:0000357	Abnormal location of ears	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000356	HP:0000357	Abnormal location of ears	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000356	HP:0000400	Macrotia	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000356	HP:0000411	Protruding ear	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000356	HP:0000357	Abnormal location of ears	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000356	HP:0000411	Protruding ear	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000356	HP:0011039	Abnormal helix morphology	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000356	HP:0000357	Abnormal location of ears	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0000356	HP:0000400	Macrotia	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0000356	HP:0000400	Macrotia	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0000356	HP:0000357	Abnormal location of ears	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000356	HP:0000357	Abnormal location of ears	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0000356	HP:0000400	Macrotia	2	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:0000356	HP:0000357	Abnormal location of ears	2	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0000356	HP:0000357	Abnormal location of ears	2	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0000356	HP:0008572	External ear malformation	2	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0000356	HP:0000357	Abnormal location of ears	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0000356	HP:0000357	Abnormal location of ears	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0000356	HP:0000400	Macrotia	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0000356	HP:0000400	Macrotia	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0000356	HP:0000357	Abnormal location of ears	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0000356	HP:0000357	Abnormal location of ears	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000356	HP:0011039	Abnormal helix morphology	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0000356	HP:0000357	Abnormal location of ears	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0000356	HP:0000357	Abnormal location of ears	2	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0000356	HP:0000357	Abnormal location of ears	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000356	HP:0000378	Cupped ear	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000356	HP:0011039	Abnormal helix morphology	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000356	HP:0000400	Macrotia	2	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040281 - Very frequent	28
HP:0000356	HP:0000400	Macrotia	2	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked	.	28
HP:0000356	HP:0000411	Protruding ear	2	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked	.	28
HP:0000356	HP:0000411	Protruding ear	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0000356	HP:0000357	Abnormal location of ears	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0000356	HP:0011039	Abnormal helix morphology	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0000356	HP:0008572	External ear malformation	2	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	2
HP:0000356	HP:0000378	Cupped ear	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0000356	HP:0011039	Abnormal helix morphology	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0000356	HP:0011039	Abnormal helix morphology	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0000356	HP:0000357	Abnormal location of ears	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0000356	HP:0000357	Abnormal location of ears	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0000356	HP:0000357	Abnormal location of ears	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0000356	HP:0000357	Abnormal location of ears	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0000356	HP:0000357	Abnormal location of ears	2	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8		76
HP:0000356	HP:0000357	Abnormal location of ears	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0000356	HP:0000357	Abnormal location of ears	2	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV		31
HP:0000356	HP:0000357	Abnormal location of ears	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0000356	HP:0011039	Abnormal helix morphology	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0000356	HP:0000357	Abnormal location of ears	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0000356	HP:0000357	Abnormal location of ears	2	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9		12
HP:0000356	HP:0000400	Macrotia	2	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.	12
HP:0000356	HP:0000411	Protruding ear	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000356	HP:0000357	Abnormal location of ears	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0000356	HP:0000357	Abnormal location of ears	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000356	HP:0011039	Abnormal helix morphology	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000356	HP:0000357	Abnormal location of ears	2	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome		104
HP:0000356	HP:0000411	Protruding ear	2	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.	104
HP:0000356	HP:0000357	Abnormal location of ears	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000356	HP:0000357	Abnormal location of ears	2	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0000356	HP:0000357	Abnormal location of ears	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0000356	HP:0011039	Abnormal helix morphology	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000356	HP:0011039	Abnormal helix morphology	2	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	98
HP:0000356	HP:0000400	Macrotia	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0000356	HP:0000357	Abnormal location of ears	2	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000356	HP:0000357	Abnormal location of ears	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0000356	HP:0000357	Abnormal location of ears	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0000356	HP:0000357	Abnormal location of ears	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK		24
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0000356	HP:0000357	Abnormal location of ears	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000356	HP:0011039	Abnormal helix morphology	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000356	HP:0000411	Protruding ear	2	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	37
HP:0000356	HP:0100830	Round ear	2	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	37
HP:0000356	HP:0000411	Protruding ear	2	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	43
HP:0000356	HP:0100830	Round ear	2	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	43
HP:0000356	HP:0000400	Macrotia	2	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000356	HP:0000400	Macrotia	2	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	6
HP:0000356	HP:0000357	Abnormal location of ears	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0000356	HP:0000400	Macrotia	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0000356	HP:0000357	Abnormal location of ears	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000356	HP:0000357	Abnormal location of ears	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0000356	HP:0000400	Macrotia	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000356	HP:0000400	Macrotia	2	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000400	Macrotia	2	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000356	HP:0008572	External ear malformation	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0000356	HP:0000411	Protruding ear	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare	140
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000356	HP:0000357	Abnormal location of ears	2	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A		54
HP:0000356	HP:0000411	Protruding ear	2	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	54
HP:0000356	HP:0100830	Round ear	2	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	54
HP:0000356	HP:0000357	Abnormal location of ears	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0000356	HP:0000400	Macrotia	2	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000356	HP:0000357	Abnormal location of ears	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000411	Protruding ear	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0000356	HP:0000400	Macrotia	2	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome		158
HP:0000356	HP:0000357	Abnormal location of ears	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0000356	HP:0000357	Abnormal location of ears	2	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome		108
HP:0000356	HP:0000400	Macrotia	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.	8
HP:0000356	HP:0011039	Abnormal helix morphology	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000356	HP:0000357	Abnormal location of ears	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0000356	HP:0000357	Abnormal location of ears	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000356	HP:0000357	Abnormal location of ears	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0000356	HP:0000411	Protruding ear	2	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68		1
HP:0000356	HP:0000400	Macrotia	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0000356	HP:0000400	Macrotia	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent	171
HP:0000356	HP:0000411	Protruding ear	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent	171
HP:0000356	HP:0000357	Abnormal location of ears	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0000356	HP:0000411	Protruding ear	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	171
HP:0000356	HP:0000400	Macrotia	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0000356	HP:0000411	Protruding ear	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0000356	HP:0000411	Protruding ear	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0000356	HP:0000357	Abnormal location of ears	2	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0000356	HP:0000357	Abnormal location of ears	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital		111
HP:0000356	HP:0000357	Abnormal location of ears	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		1
HP:0000356	HP:0000357	Abnormal location of ears	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000356	HP:0000411	Protruding ear	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000356	HP:0000357	Abnormal location of ears	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000356	HP:0000357	Abnormal location of ears	2	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome		41
HP:0000356	HP:0000357	Abnormal location of ears	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39		11
HP:0000356	HP:0000400	Macrotia	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.	11
HP:0000356	HP:0000400	Macrotia	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0000356	HP:0000411	Protruding ear	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0000356	HP:0000357	Abnormal location of ears	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0000356	HP:0000357	Abnormal location of ears	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0000356	HP:0008572	External ear malformation	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0000356	HP:0000357	Abnormal location of ears	2	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0000356	HP:0000357	Abnormal location of ears	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0000356	HP:0000411	Protruding ear	2	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000356	HP:0000411	Protruding ear	2	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	14
HP:0000356	HP:0000411	Protruding ear	2	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	61
HP:0000356	HP:0000357	Abnormal location of ears	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0000356	HP:0000357	Abnormal location of ears	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0000356	HP:0008572	External ear malformation	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0000356	HP:0011039	Abnormal helix morphology	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0000356	HP:0011039	Abnormal helix morphology	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0000356	HP:0000357	Abnormal location of ears	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0000356	HP:0000378	Cupped ear	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0000356	HP:0011039	Abnormal helix morphology	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040283 - Occasional	7
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0000356	HP:0000357	Abnormal location of ears	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0000356	HP:0000357	Abnormal location of ears	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000356	HP:0000402	Stenosis of the external auditory canal	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000356	HP:0000413	Atresia of the external auditory canal	2	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040283 - Occasional	7
HP:0000356	HP:0400002	Extra concha fold	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000356	HP:0000357	Abnormal location of ears	2	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0000356	HP:0000357	Abnormal location of ears	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0000356	HP:0000411	Protruding ear	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000356	HP:0200047	Chondritis of pinna	2	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0000356	HP:0000357	Abnormal location of ears	2	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000356	HP:0000411	Protruding ear	2	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000356	HP:0000400	Macrotia	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0000356	HP:0008572	External ear malformation	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0000356	HP:0000357	Abnormal location of ears	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000356	HP:0000357	Abnormal location of ears	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000357	Abnormal location of ears	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0000356	HP:0000357	Abnormal location of ears	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0011039	Abnormal helix morphology	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000356	HP:0000357	Abnormal location of ears	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000356	HP:0000357	Abnormal location of ears	2	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria		135
HP:0000356	HP:0000357	Abnormal location of ears	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0000356	HP:0000357	Abnormal location of ears	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		23
HP:0000356	HP:0000357	Abnormal location of ears	2	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome		33
HP:0000356	HP:0000411	Protruding ear	2	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	33
HP:0000356	HP:0000357	Abnormal location of ears	2	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0000356	HP:0000357	Abnormal location of ears	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0000356	HP:0000357	Abnormal location of ears	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0000356	HP:0000357	Abnormal location of ears	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0000356	HP:0000357	Abnormal location of ears	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0000356	HP:0000357	Abnormal location of ears	2	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly		2
HP:0000356	HP:0000357	Abnormal location of ears	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000356	HP:0000357	Abnormal location of ears	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0000356	HP:0000357	Abnormal location of ears	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0000356	HP:0000357	Abnormal location of ears	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000356	HP:0000400	Macrotia	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000411	Protruding ear	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0011039	Abnormal helix morphology	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0000356	HP:0000357	Abnormal location of ears	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0000356	HP:0000357	Abnormal location of ears	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:0000356	HP:0000357	Abnormal location of ears	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0000356	HP:0000357	Abnormal location of ears	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0000356	HP:0000357	Abnormal location of ears	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0000356	HP:0000357	Abnormal location of ears	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0000356	HP:0000357	Abnormal location of ears	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0000356	HP:0000357	Abnormal location of ears	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000356	HP:0000357	Abnormal location of ears	2	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome		60
HP:0000356	HP:0000411	Protruding ear	2	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional	95
HP:0000356	HP:0000357	Abnormal location of ears	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0000356	HP:0020206	Simple ear	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0000356	HP:0000357	Abnormal location of ears	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000356	HP:0000400	Macrotia	2	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000356	HP:0000400	Macrotia	2	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent	14
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome		14
HP:0000356	HP:0000357	Abnormal location of ears	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0000356	HP:0000400	Macrotia	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0000356	HP:0000378	Cupped ear	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000356	HP:0000357	Abnormal location of ears	2	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0000356	HP:0000357	Abnormal location of ears	2	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0000356	HP:0000411	Protruding ear	2	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040283 - Occasional	4
HP:0000356	HP:0000357	Abnormal location of ears	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0000356	HP:0000357	Abnormal location of ears	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000356	HP:0000411	Protruding ear	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional	13
HP:0000356	HP:0000357	Abnormal location of ears	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0000356	HP:0400004	Long ear	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0000356	HP:0000357	Abnormal location of ears	2	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0000356	HP:0008572	External ear malformation	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0000356	HP:0000357	Abnormal location of ears	2	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0000356	HP:0000357	Abnormal location of ears	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0000356	HP:0009738	Abnormal antihelix morphology	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional	5
HP:0000356	HP:0011039	Abnormal helix morphology	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0000356	HP:0000357	Abnormal location of ears	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0000356	HP:0000400	Macrotia	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.	2
HP:0000356	HP:0000357	Abnormal location of ears	2	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome		14
HP:0000356	HP:0000357	Abnormal location of ears	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000356	HP:0000357	Abnormal location of ears	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000356	HP:0020206	Simple ear	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000356	HP:0000357	Abnormal location of ears	2	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q		16
HP:0000356	HP:0000357	Abnormal location of ears	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0000356	HP:0000400	Macrotia	2	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent	17
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome		17
HP:0000356	HP:0000357	Abnormal location of ears	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000356	HP:0000400	Macrotia	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000356	HP:0000357	Abnormal location of ears	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0000356	HP:0000357	Abnormal location of ears	2	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0000356	HP:0000357	Abnormal location of ears	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0000356	HP:0000357	Abnormal location of ears	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000356	HP:0000357	Abnormal location of ears	2	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome		10
HP:0000356	HP:0000411	Protruding ear	2	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	10
HP:0000356	HP:0000411	Protruding ear	2	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type	.	10
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000356	HP:0000378	Cupped ear	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0000356	HP:0000357	Abnormal location of ears	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000356	HP:0000357	Abnormal location of ears	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000356	HP:0000400	Macrotia	2	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0000356	HP:0000357	Abnormal location of ears	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0000356	HP:0000357	Abnormal location of ears	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000356	HP:0011039	Abnormal helix morphology	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000356	HP:0011039	Abnormal helix morphology	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0000356	HP:0000357	Abnormal location of ears	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0000356	HP:0000357	Abnormal location of ears	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0000356	HP:0000357	Abnormal location of ears	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000356	HP:0011039	Abnormal helix morphology	2	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0000356	HP:0000357	Abnormal location of ears	2	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0000356	HP:0000357	Abnormal location of ears	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000356	HP:0000378	Cupped ear	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000356	HP:0000363	Abnormal earlobe morphology	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0000356	HP:0000411	Protruding ear	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0000356	HP:0000357	Abnormal location of ears	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0000356	HP:0000357	Abnormal location of ears	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0000378	Cupped ear	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0000411	Protruding ear	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:3000022	Abnormality of cartilage of external ear	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0008772	Aplasia/Hypoplasia of the external ear	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0011039	Abnormal helix morphology	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0000400	Macrotia	2	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0000356	HP:0000357	Abnormal location of ears	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000356	HP:0000400	Macrotia	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000356	HP:0000400	Macrotia	2	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97		34
HP:0000356	HP:0000400	Macrotia	2	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0008572	External ear malformation	2	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0004461	Congenital earlobe sinuses	3	CL E G H
HP:0000356	HP:0011233	Antihelical shelf	3	CL E G H
HP:0000356	HP:0011248	Everted antitragus	3	CL E G H
HP:0000356	HP:0011249	Absent antitragus	3	CL E G H
HP:0000356	HP:0011250	Bifid antitragus	3	CL E G H
HP:0000356	HP:0011253	Type I cryptotia	3	CL E G H
HP:0000356	HP:0011254	Type II cryptotia	3	CL E G H
HP:0000356	HP:0011262	Crimped helix	3	CL E G H
HP:0000356	HP:0011263	Forward facing earlobe	3	CL E G H
HP:0000356	HP:0011264	Discontinuous ascending root of helix	3	CL E G H
HP:0000356	HP:0011269	Bifid tragus	3	CL E G H
HP:0000356	HP:0030788	Impacted cerumen	3	CL E G H
HP:0000356	HP:0030789	Excessive cerumen	3	CL E G H
HP:0000356	HP:0030790	Abnormal cerumen color	3	CL E G H
HP:0000356	HP:0031510	Linear earlobe crease	3	CL E G H
HP:0000356	HP:0031511	Diagonal earlobe crease	3	CL E G H
HP:0000356	HP:0040101	Cutaneous atresia of the external auditory canal	3	CL E G H
HP:0000356	HP:0040102	Osseous atresia of the external auditory canal	3	CL E G H
HP:0000356	HP:0040103	Cutaneous stenosis of the external auditory canal	3	CL E G H
HP:0000356	HP:0040104	Osseous stenosis of the external auditory canal	3	CL E G H
HP:0000356	HP:0100810	Pointed helix	3	CL E G H
HP:0000356	HP:0400003	Focal absence of the external ear	3	CL E G H
HP:0000356	HP:0008589	Hypoplastic helices	3	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0000356	HP:0009739	Hypoplasia of the antihelix	3	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0000356	HP:0005103	Calcification of the auricular cartilage	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0000356	HP:0008551	Microtia	3	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.	90
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent	34
HP:0000356	HP:0000369	Low-set ears	3	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0000356	HP:0000369	Low-set ears	3	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type		34
HP:0000356	HP:0009904	Prominent ear helix	3	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0000356	HP:0000369	Low-set ears	3	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0000356	HP:0000369	Low-set ears	3	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent	120
HP:0000356	HP:0000369	Low-set ears	3	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0000356	HP:0000369	Low-set ears	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0000356	HP:0000369	Low-set ears	3	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	96
HP:0000356	HP:0000369	Low-set ears	3	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	96
HP:0000356	HP:0000369	Low-set ears	3	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0000356	HP:0008544	Abnormally folded helix	3	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0000356	HP:0000369	Low-set ears	3	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0000356	HP:0000369	Low-set ears	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000356	HP:0008551	Microtia	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus	.	8
HP:0000356	HP:0000369	Low-set ears	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000391	Thickened helices	3	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0000356	HP:0000369	Low-set ears	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0000356	HP:0000369	Low-set ears	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0000356	HP:0000369	Low-set ears	3	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0000356	HP:0000369	Low-set ears	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0000356	HP:0008551	Microtia	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000356	HP:0000369	Low-set ears	3	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000356	HP:0000369	Low-set ears	3	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0000356	HP:0000369	Low-set ears	3	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent	118
HP:0000356	HP:0009904	Prominent ear helix	3	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent	59
HP:0000356	HP:0000369	Low-set ears	3	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000356	HP:0000391	Thickened helices	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0000356	HP:0000358	Posteriorly rotated ears	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:0000356	HP:0000369	Low-set ears	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:0000356	HP:0008551	Microtia	3	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0000356	HP:0008544	Abnormally folded helix	3	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000356	HP:0008589	Hypoplastic helices	3	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000356	HP:0000369	Low-set ears	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	127
HP:0000356	HP:0000369	Low-set ears	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:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0000356	HP:0009909	Uplifted earlobe	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:0000356	HP:0000369	Low-set ears	3	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0000356	HP:0009909	Uplifted earlobe	3	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0000356	HP:0000369	Low-set ears	3	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	175
HP:0000356	HP:0000369	Low-set ears	3	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0000356	HP:0000358	Posteriorly rotated ears	3	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0000356	HP:0000369	Low-set ears	3	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0000356	HP:0000369	Low-set ears	3	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0000356	HP:0000369	Low-set ears	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0000356	HP:0000369	Low-set ears	3	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0000356	HP:0000369	Low-set ears	3	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.	89
HP:0000356	HP:0000369	Low-set ears	3	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0000356	HP:0000369	Low-set ears	3	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000356	HP:0000369	Low-set ears	3	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0000356	HP:0000369	Low-set ears	3	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0000356	HP:0000369	Low-set ears	3	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0000356	HP:0000369	Low-set ears	3	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0000356	HP:0000369	Low-set ears	3	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0000356	HP:0000369	Low-set ears	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000356	HP:0002265	Large fleshy ears	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000356	HP:0000369	Low-set ears	3	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.	93
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000356	HP:0000369	Low-set ears	3	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000356	HP:0002265	Large fleshy ears	3	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0000356	HP:0000369	Low-set ears	3	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0000356	HP:0000369	Low-set ears	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0000356	HP:0000369	Low-set ears	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0000356	HP:0000369	Low-set ears	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0000356	HP:0000369	Low-set ears	3	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0000356	HP:0000369	Low-set ears	3	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent	132
HP:0000356	HP:0000358	Posteriorly rotated ears	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000356	HP:0000369	Low-set ears	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000356	HP:0008544	Abnormally folded helix	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000356	HP:0008551	Microtia	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000356	HP:0000358	Posteriorly rotated ears	3	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0000356	HP:0000369	Low-set ears	3	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0000356	HP:0008544	Abnormally folded helix	3	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000356	HP:0000369	Low-set ears	3	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000356	HP:0000369	Low-set ears	3	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0000356	HP:0000369	Low-set ears	3	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0000356	HP:0000358	Posteriorly rotated ears	3	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000356	HP:0000369	Low-set ears	3	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000356	HP:0000358	Posteriorly rotated ears	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000356	HP:0000369	Low-set ears	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000356	HP:0000369	Low-set ears	3	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0000356	HP:0000395	Prominent antihelix	3	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0000356	HP:0000369	Low-set ears	3	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000356	HP:0000369	Low-set ears	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000356	HP:0000369	Low-set ears	3	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000356	HP:0000369	Low-set ears	3	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	62
HP:0000356	HP:0000369	Low-set ears	3	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0000356	HP:0000369	Low-set ears	3	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0000356	HP:0000369	Low-set ears	3	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0000356	HP:0000369	Low-set ears	3	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000369	Low-set ears	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0008544	Abnormally folded helix	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0000356	HP:0000369	Low-set ears	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000356	HP:0010722	Asymmetry of the ears	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0000356	HP:0000369	Low-set ears	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000356	HP:0000369	Low-set ears	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0000356	HP:0000369	Low-set ears	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0000356	HP:0008544	Abnormally folded helix	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000356	HP:0000369	Low-set ears	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000356	HP:0000369	Low-set ears	3	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent	4
HP:0000356	HP:0000369	Low-set ears	3	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0000356	HP:0000369	Low-set ears	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0000356	HP:0000369	Low-set ears	3	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000356	HP:0000369	Low-set ears	3	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0000356	HP:0000369	Low-set ears	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0000356	HP:0000369	Low-set ears	3	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0000356	HP:0000369	Low-set ears	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0000356	HP:0000369	Low-set ears	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0000356	HP:0000369	Low-set ears	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0000356	HP:0000369	Low-set ears	3	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0000356	HP:0000369	Low-set ears	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0000356	HP:0002265	Large fleshy ears	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	5
HP:0000356	HP:0000369	Low-set ears	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0000356	HP:0000369	Low-set ears	3	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome		168
HP:0000356	HP:0000369	Low-set ears	3	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0000356	HP:0000369	Low-set ears	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0000356	HP:0008551	Microtia	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000356	HP:0000369	Low-set ears	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000356	HP:0008551	Microtia	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000356	HP:0000369	Low-set ears	3	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent	61
HP:0000356	HP:0000369	Low-set ears	3	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0000356	HP:0000358	Posteriorly rotated ears	3	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	43
HP:0000356	HP:0000369	Low-set ears	3	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	43
HP:0000356	HP:0000358	Posteriorly rotated ears	3	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0000356	HP:0000369	Low-set ears	3	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0000356	HP:0000358	Posteriorly rotated ears	3	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome		38
HP:0000356	HP:0000369	Low-set ears	3	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome		38
HP:0000356	HP:0000369	Low-set ears	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:0000356	HP:0008551	Microtia	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:0000356	HP:0008593	Prominent antitragus	3	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:0000356	HP:0000358	Posteriorly rotated ears	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000356	HP:0000369	Low-set ears	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000356	HP:0008551	Microtia	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000356	HP:0000358	Posteriorly rotated ears	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000356	HP:0000369	Low-set ears	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000356	HP:0008551	Microtia	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000356	HP:0000369	Low-set ears	3	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0000356	HP:0000369	Low-set ears	3	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000356	HP:0000358	Posteriorly rotated ears	3	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	17
HP:0000356	HP:0000369	Low-set ears	3	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	17
HP:0000356	HP:0000369	Low-set ears	3	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	28
HP:0000356	HP:0000358	Posteriorly rotated ears	3	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0000356	HP:0000369	Low-set ears	3	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0000356	HP:0000369	Low-set ears	3	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	34
HP:0000356	HP:0000358	Posteriorly rotated ears	3	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0000356	HP:0000369	Low-set ears	3	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0000356	HP:0000369	Low-set ears	3	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0000356	HP:0000369	Low-set ears	3	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0000356	HP:0000369	Low-set ears	3	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0000356	HP:0000369	Low-set ears	3	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0000356	HP:0000369	Low-set ears	3	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0000356	HP:0000369	Low-set ears	3	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0000356	HP:0000369	Low-set ears	3	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0000356	HP:0000369	Low-set ears	3	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0000356	HP:0000369	Low-set ears	3	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0000356	HP:0000369	Low-set ears	3	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0000356	HP:0008544	Abnormally folded helix	3	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin		11
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000356	HP:0000369	Low-set ears	3	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000356	HP:0000369	Low-set ears	3	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0000356	HP:0008544	Abnormally folded helix	3	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0000356	HP:0040080	Anteverted ears	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0000356	HP:0010722	Asymmetry of the ears	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0000356	HP:0008544	Abnormally folded helix	3	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0000369	Low-set ears	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0000395	Prominent antihelix	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0008544	Abnormally folded helix	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0009748	Large earlobe	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000356	HP:0000369	Low-set ears	3	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000356	HP:0000391	Thickened helices	3	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional	13
HP:0000356	HP:0008551	Microtia	3	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional	13
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0000356	HP:0000369	Low-set ears	3	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000356	HP:0000369	Low-set ears	3	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000356	HP:0009909	Uplifted earlobe	3	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6	.	38
HP:0000356	HP:0000369	Low-set ears	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0000356	HP:0000369	Low-set ears	3	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0000356	HP:0008551	Microtia	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0000356	HP:0000369	Low-set ears	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0000356	HP:0000391	Thickened helices	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0000356	HP:0000369	Low-set ears	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000356	HP:0009748	Large earlobe	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000356	HP:0009908	Anterior creases of earlobe	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0000356	HP:0000369	Low-set ears	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0000356	HP:0000369	Low-set ears	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000356	HP:0000369	Low-set ears	3	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000356	HP:0000391	Thickened helices	3	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000356	HP:0009748	Large earlobe	3	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0000356	HP:0000369	Low-set ears	3	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0000356	HP:0000369	Low-set ears	3	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000356	HP:0000369	Low-set ears	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000356	HP:0000369	Low-set ears	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0000356	HP:0000369	Low-set ears	3	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0000356	HP:0000369	Low-set ears	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0000356	HP:0000369	Low-set ears	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0000356	HP:0000369	Low-set ears	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000356	HP:0000369	Low-set ears	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000356	HP:0000358	Posteriorly rotated ears	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0000356	HP:0000369	Low-set ears	3	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040282 - Frequent	13
HP:0000356	HP:0000358	Posteriorly rotated ears	3	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0000356	HP:0000369	Low-set ears	3	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0000356	HP:0000358	Posteriorly rotated ears	3	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000356	HP:0000369	Low-set ears	3	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000356	HP:0000369	Low-set ears	3	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000356	HP:0040080	Anteverted ears	3	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0000356	HP:0000369	Low-set ears	3	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.	1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0000356	HP:0000369	Low-set ears	3	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0000356	HP:0000369	Low-set ears	3	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000356	HP:0000369	Low-set ears	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000356	HP:0008551	Microtia	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0000356	HP:0000369	Low-set ears	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0000356	HP:0000369	Low-set ears	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0000356	HP:0000391	Thickened helices	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0000356	HP:0000369	Low-set ears	3	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0000356	HP:0000369	Low-set ears	3	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0000356	HP:0000369	Low-set ears	3	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0000356	HP:0000369	Low-set ears	3	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0000356	HP:0000369	Low-set ears	3	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0000356	HP:0000369	Low-set ears	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000356	HP:0000369	Low-set ears	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0000356	HP:0000369	Low-set ears	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0000356	HP:0000369	Low-set ears	3	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0000356	HP:0000369	Low-set ears	3	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	HP:0040284 - Very rare	7
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0000356	HP:0000369	Low-set ears	3	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0000356	HP:0000369	Low-set ears	3	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0000356	HP:0100720	Hypoplasia of the ear cartilage	3	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent	83
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0000356	HP:0000369	Low-set ears	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000356	HP:0000369	Low-set ears	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000356	HP:0000369	Low-set ears	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000356	HP:0009909	Uplifted earlobe	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0000356	HP:0000369	Low-set ears	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0000356	HP:0008551	Microtia	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0000356	HP:0009892	Anotia	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	9
HP:0000356	HP:0000369	Low-set ears	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000356	HP:0008551	Microtia	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0000356	HP:0000369	Low-set ears	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0000356	HP:0008551	Microtia	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0000356	HP:0009892	Anotia	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	31
HP:0000356	HP:0000369	Low-set ears	3	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0000356	HP:0008551	Microtia	3	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0000356	HP:0000369	Low-set ears	3	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	4
HP:0000356	HP:0000369	Low-set ears	3	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0000356	HP:0009748	Large earlobe	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000356	HP:0009907	Attached earlobe	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000356	HP:0000369	Low-set ears	3	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000356	HP:0000369	Low-set ears	3	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000356	HP:0000391	Thickened helices	3	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000356	HP:0000369	Low-set ears	3	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0000356	HP:0000369	Low-set ears	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0000356	HP:0008544	Abnormally folded helix	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000356	HP:0008523	Posterior helix pit	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0000356	HP:0000369	Low-set ears	3	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	114
HP:0000356	HP:0000369	Low-set ears	3	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0000356	HP:0000369	Low-set ears	3	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	114
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0000356	HP:0000369	Low-set ears	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0000356	HP:0008551	Microtia	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0000356	HP:0009892	Anotia	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	50
HP:0000356	HP:0000369	Low-set ears	3	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0000356	HP:0008551	Microtia	3	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome		20
HP:0000356	HP:0000369	Low-set ears	3	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0000356	HP:0008551	Microtia	3	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6		161
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome		161
HP:0000356	HP:0000369	Low-set ears	3	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.	161
HP:0000356	HP:0000369	Low-set ears	3	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	5
HP:0000356	HP:0000369	Low-set ears	3	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	7
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0000356	HP:0000369	Low-set ears	3	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome		146
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0000356	HP:0000369	Low-set ears	3	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0000356	HP:0000369	Low-set ears	3	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0000356	HP:0000369	Low-set ears	3	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0000356	HP:0000369	Low-set ears	3	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	90
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0000356	HP:0000369	Low-set ears	3	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0000356	HP:0000369	Low-set ears	3	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0000356	HP:0000369	Low-set ears	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0000356	HP:0000369	Low-set ears	3	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000356	HP:0000369	Low-set ears	3	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000356	HP:0000369	Low-set ears	3	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0000356	HP:0000369	Low-set ears	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	65
HP:0000356	HP:0000369	Low-set ears	3	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0000356	HP:0000369	Low-set ears	3	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000356	HP:0000369	Low-set ears	3	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000356	HP:0008551	Microtia	3	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000356	HP:0000369	Low-set ears	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000356	HP:0000369	Low-set ears	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000356	HP:0008544	Abnormally folded helix	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000356	HP:0008551	Microtia	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0000356	HP:0008551	Microtia	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0000356	HP:0000369	Low-set ears	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0000356	HP:0000369	Low-set ears	3	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0000356	HP:0000369	Low-set ears	3	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0000356	HP:0000369	Low-set ears	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0000356	HP:0000369	Low-set ears	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0000356	HP:0000369	Low-set ears	3	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0000356	HP:0000369	Low-set ears	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0000356	HP:0000369	Low-set ears	3	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0000356	HP:0000369	Low-set ears	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:0000356	HP:0008551	Microtia	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:0000356	HP:0008593	Prominent antitragus	3	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:0000356	HP:0008551	Microtia	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0000356	HP:0000369	Low-set ears	3	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0000356	HP:0000369	Low-set ears	3	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000356	HP:0008544	Abnormally folded helix	3	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000356	HP:0000369	Low-set ears	3	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000356	HP:0000369	Low-set ears	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000356	HP:0008544	Abnormally folded helix	3	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome		4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0000356	HP:0008551	Microtia	3	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0000356	HP:0000369	Low-set ears	3	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0000356	HP:0000369	Low-set ears	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:0000356	HP:0000369	Low-set ears	3	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000356	HP:0000369	Low-set ears	3	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0000356	HP:0000358	Posteriorly rotated ears	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0000356	HP:0000369	Low-set ears	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0000356	HP:0008551	Microtia	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional	52
HP:0000356	HP:0000358	Posteriorly rotated ears	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000356	HP:0000369	Low-set ears	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000356	HP:0008551	Microtia	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0000356	HP:0000358	Posteriorly rotated ears	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040282 - Frequent	79
HP:0000356	HP:0000369	Low-set ears	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040282 - Frequent	79
HP:0000356	HP:0000369	Low-set ears	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0000356	HP:0000369	Low-set ears	3	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	215
HP:0000356	HP:0000369	Low-set ears	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000356	HP:0000369	Low-set ears	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0000356	HP:0000369	Low-set ears	3	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	222
HP:0000356	HP:0000358	Posteriorly rotated ears	3	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0000356	HP:0000369	Low-set ears	3	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.	6
HP:0000356	HP:0000369	Low-set ears	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	6
HP:0000356	HP:0000369	Low-set ears	3	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent	284
HP:0000356	HP:0000369	Low-set ears	3	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0000356	HP:0000358	Posteriorly rotated ears	3	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0000356	HP:0008544	Abnormally folded helix	3	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0000356	HP:0000358	Posteriorly rotated ears	3	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	193
HP:0000356	HP:0000369	Low-set ears	3	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	193
HP:0000356	HP:0000369	Low-set ears	3	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	3
HP:0000356	HP:0002265	Large fleshy ears	3	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0000356	HP:0000369	Low-set ears	3	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	9
HP:0000356	HP:0002265	Large fleshy ears	3	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0000356	HP:0000369	Low-set ears	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0000356	HP:0008544	Abnormally folded helix	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000356	HP:0000358	Posteriorly rotated ears	3	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional	6
HP:0000356	HP:0011265	Cleft earlobe	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0000356	HP:0000369	Low-set ears	3	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000356	HP:0000369	Low-set ears	3	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000356	HP:0000369	Low-set ears	3	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0000356	HP:0008551	Microtia	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0008528	Long hairs growing from helix of pinna	3	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional	72
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0000356	HP:0000369	Low-set ears	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0000356	HP:0008544	Abnormally folded helix	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0000356	HP:0000369	Low-set ears	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0008544	Abnormally folded helix	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0011243	Abnormality of inferior crus of antihelix	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0000369	Low-set ears	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000356	HP:0000369	Low-set ears	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent	291
HP:0000356	HP:0000369	Low-set ears	3	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0000356	HP:0000369	Low-set ears	3	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0000356	HP:0008551	Microtia	3	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000369	Low-set ears	3	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000356	HP:0000369	Low-set ears	3	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000356	HP:0000369	Low-set ears	3	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0000356	HP:0000369	Low-set ears	3	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	57
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0000356	HP:0000369	Low-set ears	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0000356	HP:0008544	Abnormally folded helix	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0000356	HP:0000369	Low-set ears	3	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000369	Low-set ears	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0008551	Microtia	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0000356	HP:0000369	Low-set ears	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000356	HP:0000369	Low-set ears	3	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000356	HP:0000358	Posteriorly rotated ears	3	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0000356	HP:0000369	Low-set ears	3	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0000356	HP:0000369	Low-set ears	3	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.	159
HP:0000356	HP:0000369	Low-set ears	3	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0000356	HP:0000369	Low-set ears	3	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0000356	HP:0000369	Low-set ears	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0000356	HP:0008544	Abnormally folded helix	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000356	HP:0008551	Microtia	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0008544	Abnormally folded helix	3	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0000356	HP:0008551	Microtia	3	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	108
HP:0000356	HP:0000369	Low-set ears	3	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	108
HP:0000356	HP:0008551	Microtia	3	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent	27
HP:0000356	HP:0008551	Microtia	3	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000356	HP:0000369	Low-set ears	3	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.	5
HP:0000356	HP:0000369	Low-set ears	3	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000356	HP:0000369	Low-set ears	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000356	HP:0100720	Hypoplasia of the ear cartilage	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000356	HP:0000369	Low-set ears	3	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0000356	HP:0000369	Low-set ears	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000356	HP:0008544	Abnormally folded helix	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000356	HP:0000369	Low-set ears	3	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000356	HP:0000369	Low-set ears	3	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent	72
HP:0000356	HP:0009748	Large earlobe	3	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent	72
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000356	HP:0000369	Low-set ears	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000356	HP:0000369	Low-set ears	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0000356	HP:0000369	Low-set ears	3	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0000356	HP:0000369	Low-set ears	3	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0000356	HP:0008551	Microtia	3	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0000356	HP:0000369	Low-set ears	3	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000356	HP:0000369	Low-set ears	3	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0000356	HP:0000369	Low-set ears	3	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0000356	HP:0000369	Low-set ears	3	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0000356	HP:0000391	Thickened helices	3	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0000356	HP:0000358	Posteriorly rotated ears	3	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:0000356	HP:0008551	Microtia	3	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:0000356	HP:0000358	Posteriorly rotated ears	3	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000356	HP:0000369	Low-set ears	3	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000356	HP:0000369	Low-set ears	3	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000356	HP:0000369	Low-set ears	3	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	79
HP:0000356	HP:0000369	Low-set ears	3	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0000356	HP:0000369	Low-set ears	3	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0000356	HP:0009748	Large earlobe	3	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:0000356	HP:0009904	Prominent ear helix	3	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:0000356	HP:0000358	Posteriorly rotated ears	3	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	91
HP:0000356	HP:0000369	Low-set ears	3	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000356	HP:0000369	Low-set ears	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000356	HP:0000369	Low-set ears	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0000356	HP:0000369	Low-set ears	3	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0000356	HP:0000369	Low-set ears	3	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000356	HP:0009748	Large earlobe	3	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0000356	HP:0000369	Low-set ears	3	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0000356	HP:0000369	Low-set ears	3	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	HP:0040283 - Occasional	108
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0000356	HP:0000369	Low-set ears	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000356	HP:0000369	Low-set ears	3	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000356	HP:0000358	Posteriorly rotated ears	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0000356	HP:0000369	Low-set ears	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0000356	HP:0000369	Low-set ears	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000356	HP:0000369	Low-set ears	3	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.	7
HP:0000356	HP:0000391	Thickened helices	3	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000356	HP:0000369	Low-set ears	3	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare	4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000356	HP:0000369	Low-set ears	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000356	HP:0008544	Abnormally folded helix	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000356	HP:0000369	Low-set ears	3	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0000356	HP:0000369	Low-set ears	3	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0000356	HP:0000369	Low-set ears	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0000356	HP:0000369	Low-set ears	3	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000356	HP:0000391	Thickened helices	3	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000356	HP:0000358	Posteriorly rotated ears	3	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0000356	HP:0000369	Low-set ears	3	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0000356	HP:0009902	Cleft helix	3	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent	6
HP:0000356	HP:0000369	Low-set ears	3	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000356	HP:0008551	Microtia	3	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000356	HP:0000369	Low-set ears	3	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0000356	HP:0000369	Low-set ears	3	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0000356	HP:0000369	Low-set ears	3	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0000356	HP:0000369	Low-set ears	3	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0000356	HP:0000369	Low-set ears	3	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0000356	HP:0000369	Low-set ears	3	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000356	HP:0008544	Abnormally folded helix	3	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0000356	HP:0008551	Microtia	3	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000356	HP:0000369	Low-set ears	3	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0000356	HP:0008544	Abnormally folded helix	3	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0000356	HP:0008551	Microtia	3	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0000356	HP:0009748	Large earlobe	3	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent	48
HP:0000356	HP:0009913	Aplasia/Hypoplasia of the tragus	3	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0000356	HP:0009909	Uplifted earlobe	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0000356	HP:0009748	Large earlobe	3	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent	8
HP:0000356	HP:0000358	Posteriorly rotated ears	3	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000356	HP:0000369	Low-set ears	3	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000356	HP:0008551	Microtia	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000356	HP:0000369	Low-set ears	3	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000356	HP:0000369	Low-set ears	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000356	HP:0009748	Large earlobe	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000356	HP:0005103	Calcification of the auricular cartilage	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000356	HP:0000369	Low-set ears	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000356	HP:0000358	Posteriorly rotated ears	3	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0000356	HP:0008523	Posterior helix pit	3	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0000356	HP:0000369	Low-set ears	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent	250
HP:0000356	HP:0000369	Low-set ears	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0000356	HP:0000369	Low-set ears	3	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0000356	HP:0000369	Low-set ears	3	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.	158
HP:0000356	HP:0000369	Low-set ears	3	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.	83
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0000356	HP:0000369	Low-set ears	3	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000356	HP:0000369	Low-set ears	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0000356	HP:0000395	Prominent antihelix	3	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.	209
HP:0000356	HP:0000395	Prominent antihelix	3	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.	137
HP:0000356	HP:0000369	Low-set ears	3	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0000356	HP:0000369	Low-set ears	3	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000356	HP:0000358	Posteriorly rotated ears	3	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000356	HP:0000369	Low-set ears	3	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000356	HP:0000369	Low-set ears	3	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0000356	HP:0000369	Low-set ears	3	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0000356	HP:0000369	Low-set ears	3	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0000356	HP:0008551	Microtia	3	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0000356	HP:0008551	Microtia	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000356	HP:0000358	Posteriorly rotated ears	3	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0000356	HP:0000369	Low-set ears	3	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000356	HP:0000369	Low-set ears	3	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent	35
HP:0000356	HP:0000369	Low-set ears	3	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent	35
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0000356	HP:0000369	Low-set ears	3	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000356	HP:0000369	Low-set ears	3	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000356	HP:0008544	Abnormally folded helix	3	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000356	HP:0008551	Microtia	3	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0000356	HP:0009892	Anotia	3	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0000356	HP:0000369	Low-set ears	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000356	HP:0008551	Microtia	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000356	HP:0000369	Low-set ears	3	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000356	HP:0008551	Microtia	3	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0000356	HP:0009892	Anotia	3	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000356	HP:0008551	Microtia	3	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent	114
HP:0000356	HP:0008551	Microtia	3	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0000356	HP:0000369	Low-set ears	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0000356	HP:0008551	Microtia	3	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000356	HP:0000369	Low-set ears	3	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0000356	HP:0000369	Low-set ears	3	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent	1361
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	1361
HP:0000356	HP:0000369	Low-set ears	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	1361
HP:0000356	HP:0000391	Thickened helices	3	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0000356	HP:0008544	Abnormally folded helix	3	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent	655
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0000356	HP:0000369	Low-set ears	3	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0000356	HP:0008551	Microtia	3	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000356	HP:0000369	Low-set ears	3	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0000356	HP:0000369	Low-set ears	3	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0000356	HP:0009748	Large earlobe	3	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0000356	HP:0000369	Low-set ears	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0000356	HP:0008551	Microtia	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0000356	HP:0000369	Low-set ears	3	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	2
HP:0000356	HP:0008551	Microtia	3	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040281 - Very frequent	18
HP:0000356	HP:0040080	Anteverted ears	3	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.	18
HP:0000356	HP:0008551	Microtia	3	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia		18
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome		172
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0000356	HP:0000369	Low-set ears	3	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome		172
HP:0000356	HP:0000369	Low-set ears	3	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0000356	HP:0000369	Low-set ears	3	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0000356	HP:0000369	Low-set ears	3	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040282 - Frequent	172
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000356	HP:0000369	Low-set ears	3	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000356	HP:0000369	Low-set ears	3	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.	175
HP:0000356	HP:0000391	Thickened helices	3	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional	175
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0000356	HP:0000369	Low-set ears	3	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0000356	HP:0008544	Abnormally folded helix	3	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0000356	HP:0000369	Low-set ears	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0000356	HP:0008551	Microtia	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0000356	HP:0000369	Low-set ears	3	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040282 - Frequent	175
HP:0000356	HP:0000369	Low-set ears	3	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent	175
HP:0000356	HP:0000369	Low-set ears	3	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040282 - Frequent	175
HP:0000356	HP:0000369	Low-set ears	3	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000356	HP:0000369	Low-set ears	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	175
HP:0000356	HP:0008551	Microtia	3	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000356	HP:0008551	Microtia	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0000356	HP:0000369	Low-set ears	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0000356	HP:0008551	Microtia	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0000356	HP:0000369	Low-set ears	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	145
HP:0000356	HP:0008551	Microtia	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000356	HP:0000369	Low-set ears	3	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000356	HP:0000369	Low-set ears	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000356	HP:0000369	Low-set ears	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000356	HP:0000395	Prominent antihelix	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000356	HP:0008551	Microtia	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0000356	HP:0008551	Microtia	3	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	157
HP:0000356	HP:0000369	Low-set ears	3	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	157
HP:0000356	HP:0000369	Low-set ears	3	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0000356	HP:0008551	Microtia	3	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	184
HP:0000356	HP:0000369	Low-set ears	3	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	184
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0000356	HP:0000369	Low-set ears	3	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0000356	HP:0011245	Abnormality of superior crus of antihelix	3	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2		493
HP:0000356	HP:0000369	Low-set ears	3	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0000356	HP:0000369	Low-set ears	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000356	HP:0000369	Low-set ears	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000356	HP:0000369	Low-set ears	3	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0000356	HP:0000369	Low-set ears	3	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0000356	HP:0000369	Low-set ears	3	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0000356	HP:0008544	Abnormally folded helix	3	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0000356	HP:0000369	Low-set ears	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000356	HP:0000369	Low-set ears	3	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent	92
HP:0000356	HP:0008589	Hypoplastic helices	3	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional	184
HP:0000356	HP:0008544	Abnormally folded helix	3	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech		143
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0000356	HP:0000369	Low-set ears	3	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0000356	HP:0000369	Low-set ears	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000356	HP:0008589	Hypoplastic helices	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000356	HP:0000369	Low-set ears	3	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000356	HP:0008544	Abnormally folded helix	3	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0000356	HP:0000369	Low-set ears	3	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.	1
HP:0000356	HP:0000369	Low-set ears	3	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.	1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000369	Low-set ears	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000356	HP:0000369	Low-set ears	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000356	HP:0008551	Microtia	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0000356	HP:0000369	Low-set ears	3	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000356	HP:0010722	Asymmetry of the ears	3	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000356	HP:0000369	Low-set ears	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000356	HP:0000369	Low-set ears	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0000356	HP:0008551	Microtia	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0000356	HP:0008551	Microtia	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0000356	HP:0000369	Low-set ears	3	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000356	HP:0000369	Low-set ears	3	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000356	HP:0000369	Low-set ears	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000356	HP:0008551	Microtia	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000356	HP:0000391	Thickened helices	3	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000356	HP:0011261	Darwin tubercle of helix	3	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000356	HP:0000369	Low-set ears	3	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	1
HP:0000356	HP:0000369	Low-set ears	3	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000356	HP:0009748	Large earlobe	3	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000356	HP:0000369	Low-set ears	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000356	HP:0000369	Low-set ears	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000356	HP:0000369	Low-set ears	3	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0000356	HP:0000369	Low-set ears	3	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0000356	HP:0000369	Low-set ears	3	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1		45
HP:0000356	HP:0000369	Low-set ears	3	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1		45
HP:0000356	HP:0000395	Prominent antihelix	3	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	.	173
HP:0000356	HP:0009913	Aplasia/Hypoplasia of the tragus	3	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0000356	HP:0000369	Low-set ears	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000356	HP:0008551	Microtia	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000356	HP:0008551	Microtia	3	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0000356	HP:0000369	Low-set ears	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.	143
HP:0000356	HP:0000369	Low-set ears	3	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0000356	HP:0000369	Low-set ears	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0000356	HP:0008551	Microtia	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0000356	HP:0009892	Anotia	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000356	HP:0008551	Microtia	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0000356	HP:0000369	Low-set ears	3	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0009902	Cleft helix	3	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000356	HP:0000369	Low-set ears	3	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000356	HP:0008544	Abnormally folded helix	3	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000356	HP:0008589	Hypoplastic helices	3	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000356	HP:0009902	Cleft helix	3	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000356	HP:0008544	Abnormally folded helix	3	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome		12
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000356	HP:0008544	Abnormally folded helix	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000356	HP:0000369	Low-set ears	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000356	HP:0000369	Low-set ears	3	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0000356	HP:0000369	Low-set ears	3	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0000356	HP:0000369	Low-set ears	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0000356	HP:0000369	Low-set ears	3	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000356	HP:0000369	Low-set ears	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0000356	HP:0008544	Abnormally folded helix	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000356	HP:0000369	Low-set ears	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000356	HP:0008523	Posterior helix pit	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000356	HP:0009908	Anterior creases of earlobe	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000356	HP:0000369	Low-set ears	3	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000356	HP:0000369	Low-set ears	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000356	HP:0008523	Posterior helix pit	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000356	HP:0009908	Anterior creases of earlobe	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent	99
HP:0000356	HP:0000369	Low-set ears	3	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent	99
HP:0000356	HP:0000369	Low-set ears	3	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0000356	HP:0000369	Low-set ears	3	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0000356	HP:0000369	Low-set ears	3	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0000356	HP:0000369	Low-set ears	3	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0000356	HP:0009909	Uplifted earlobe	3	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0000356	HP:0000369	Low-set ears	3	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0000356	HP:0000369	Low-set ears	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0000356	HP:0008523	Posterior helix pit	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000356	HP:0000358	Posteriorly rotated ears	3	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000356	HP:0000369	Low-set ears	3	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000356	HP:0000369	Low-set ears	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000356	HP:0000369	Low-set ears	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000356	HP:0000391	Thickened helices	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000356	HP:0000358	Posteriorly rotated ears	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000356	HP:0000369	Low-set ears	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0000356	HP:0000369	Low-set ears	3	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0000356	HP:0000369	Low-set ears	3	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0000356	HP:0011265	Cleft earlobe	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0000356	HP:0000369	Low-set ears	3	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0000356	HP:0000369	Low-set ears	3	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000356	HP:0000369	Low-set ears	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000356	HP:0008551	Microtia	3	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	37
HP:0000356	HP:0000369	Low-set ears	3	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000356	HP:0000369	Low-set ears	3	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	6
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0000356	HP:0000369	Low-set ears	3	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0000356	HP:0000369	Low-set ears	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0000356	HP:0000369	Low-set ears	3	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0000356	HP:0000369	Low-set ears	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0000356	HP:0008544	Abnormally folded helix	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000356	HP:0008551	Microtia	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0000356	HP:0009907	Attached earlobe	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0000356	HP:0000369	Low-set ears	3	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	2
HP:0000356	HP:0040080	Anteverted ears	3	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.	2
HP:0000356	HP:0000369	Low-set ears	3	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000356	HP:0000369	Low-set ears	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000356	HP:0008551	Microtia	3	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0000356	HP:0008551	Microtia	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040283 - Occasional	11
HP:0000356	HP:0008551	Microtia	3	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040280 - Obligate	21
HP:0000356	HP:0008589	Hypoplastic helices	3	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent	21
HP:0000356	HP:0009892	Anotia	3	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent	21
HP:0000356	HP:0008544	Abnormally folded helix	3	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000356	HP:0008551	Microtia	3	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000356	HP:0031228	Abnormal incisura morphology	3	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional	2
HP:0000356	HP:0000369	Low-set ears	3	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0000356	HP:0000369	Low-set ears	3	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0000356	HP:0000369	Low-set ears	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000356	HP:0000369	Low-set ears	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0000356	HP:0009748	Large earlobe	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040283 - Occasional	113
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000356	HP:0000369	Low-set ears	3	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000356	HP:0009907	Attached earlobe	3	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000356	HP:0000369	Low-set ears	3	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0000356	HP:0008551	Microtia	3	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0000356	HP:0000369	Low-set ears	3	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0000356	HP:0008551	Microtia	3	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000356	HP:0000369	Low-set ears	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000356	HP:0008551	Microtia	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.	345
HP:0000356	HP:0000369	Low-set ears	3	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000356	HP:0000369	Low-set ears	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000356	HP:0008544	Abnormally folded helix	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000356	HP:0000369	Low-set ears	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0000356	HP:0008544	Abnormally folded helix	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000356	HP:0000369	Low-set ears	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000356	HP:0000358	Posteriorly rotated ears	3	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0000356	HP:0000369	Low-set ears	3	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	31
HP:0000356	HP:0000369	Low-set ears	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0000356	HP:0000369	Low-set ears	3	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	31
HP:0000356	HP:0000369	Low-set ears	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0000356	HP:0000369	Low-set ears	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0000356	HP:0000358	Posteriorly rotated ears	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000356	HP:0000369	Low-set ears	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000356	HP:0000358	Posteriorly rotated ears	3	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome		48
HP:0000356	HP:0000369	Low-set ears	3	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome		48
HP:0000356	HP:0000358	Posteriorly rotated ears	3	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome		3
HP:0000356	HP:0000369	Low-set ears	3	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome		3
HP:0000356	HP:0000369	Low-set ears	3	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0000356	HP:0000369	Low-set ears	3	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent	5
HP:0000356	HP:0000369	Low-set ears	3	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000356	HP:0000369	Low-set ears	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0000356	HP:0008523	Posterior helix pit	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0000356	HP:0000369	Low-set ears	3	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.	9
HP:0000356	HP:0000369	Low-set ears	3	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	9
HP:0000356	HP:0009909	Uplifted earlobe	3	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21	.	42
HP:0000356	HP:0000358	Posteriorly rotated ears	3	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000356	HP:0000369	Low-set ears	3	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000356	HP:0000369	Low-set ears	3	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	111
HP:0000356	HP:0000369	Low-set ears	3	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0000356	HP:0000369	Low-set ears	3	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0000356	HP:0000358	Posteriorly rotated ears	3	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0000356	HP:0000369	Low-set ears	3	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0000356	HP:0000358	Posteriorly rotated ears	3	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0000356	HP:0000369	Low-set ears	3	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0000356	HP:0000369	Low-set ears	3	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0000356	HP:0000369	Low-set ears	3	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0000356	HP:0000369	Low-set ears	3	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000356	HP:0000369	Low-set ears	3	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000356	HP:0000369	Low-set ears	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000356	HP:0008551	Microtia	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000356	HP:0000369	Low-set ears	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000356	HP:0000369	Low-set ears	3	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0000356	HP:0000369	Low-set ears	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000356	HP:0000369	Low-set ears	3	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0000356	HP:0000369	Low-set ears	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0000356	HP:0008551	Microtia	3	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0000356	HP:0000369	Low-set ears	3	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	4
HP:0000356	HP:0000369	Low-set ears	3	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0000356	HP:0008551	Microtia	3	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0000356	HP:0000369	Low-set ears	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000356	HP:0000369	Low-set ears	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0000356	HP:0008544	Abnormally folded helix	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000356	HP:0040080	Anteverted ears	3	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000356	HP:0008544	Abnormally folded helix	3	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000356	HP:0000369	Low-set ears	3	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.	34
HP:0000356	HP:0000369	Low-set ears	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0000395	Prominent antihelix	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0040080	Anteverted ears	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0008593	Prominent antitragus	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0009913	Aplasia/Hypoplasia of the tragus	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0000356	HP:0000369	Low-set ears	3	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0000356	HP:0000369	Low-set ears	3	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0000356	HP:0000369	Low-set ears	3	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent	141
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0000356	HP:0000369	Low-set ears	3	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0000356	HP:0000369	Low-set ears	3	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000356	HP:0000369	Low-set ears	3	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	10
HP:0000356	HP:0000369	Low-set ears	3	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000356	HP:0008551	Microtia	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0000356	HP:0002265	Large fleshy ears	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	13
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0000356	HP:0000369	Low-set ears	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0000356	HP:0000369	Low-set ears	3	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0000356	HP:0000369	Low-set ears	3	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0000356	HP:0000369	Low-set ears	3	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0000356	HP:0000369	Low-set ears	3	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000356	HP:0002265	Large fleshy ears	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	7
HP:0000356	HP:0008523	Posterior helix pit	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0000356	HP:0008523	Posterior helix pit	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0000356	HP:0008551	Microtia	3	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0000356	HP:0008551	Microtia	3	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent	11
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0000356	HP:0009913	Aplasia/Hypoplasia of the tragus	3	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000356	HP:0009913	Aplasia/Hypoplasia of the tragus	3	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0000356	HP:0011251	Underdeveloped antitragus	3	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0000356	HP:0011251	Underdeveloped antitragus	3	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent	11
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000356	HP:0000369	Low-set ears	3	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0000356	HP:0000369	Low-set ears	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000356	HP:0000369	Low-set ears	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000356	HP:0000369	Low-set ears	3	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	24
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0000356	HP:0000369	Low-set ears	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0000356	HP:0008544	Abnormally folded helix	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0000356	HP:0000369	Low-set ears	3	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0000356	HP:0000369	Low-set ears	3	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0000356	HP:0000369	Low-set ears	3	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000356	HP:0000369	Low-set ears	3	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000356	HP:0000369	Low-set ears	3	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	HP:0040283 - Occasional	9
HP:0000356	HP:0000369	Low-set ears	3	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000356	HP:0008551	Microtia	3	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000356	HP:0000369	Low-set ears	3	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0000356	HP:0000369	Low-set ears	3	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0000356	HP:0000369	Low-set ears	3	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	167
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0000356	HP:0000369	Low-set ears	3	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0000356	HP:0000369	Low-set ears	3	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000356	HP:0000369	Low-set ears	3	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	28
HP:0000356	HP:0000369	Low-set ears	3	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	13
HP:0000356	HP:0000369	Low-set ears	3	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	13
HP:0000356	HP:0000369	Low-set ears	3	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0000356	HP:0000369	Low-set ears	3	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000356	HP:0009909	Uplifted earlobe	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0000356	HP:0000369	Low-set ears	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0000356	HP:0000369	Low-set ears	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0000356	HP:0000391	Thickened helices	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2	.	196
HP:0000356	HP:0000369	Low-set ears	3	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2	.	196
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0000356	HP:0000369	Low-set ears	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0000356	HP:0000391	Thickened helices	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0000356	HP:0000358	Posteriorly rotated ears	3	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000356	HP:0000369	Low-set ears	3	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000356	HP:0000391	Thickened helices	3	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000356	HP:0000369	Low-set ears	3	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.	5
HP:0000356	HP:0100720	Hypoplasia of the ear cartilage	3	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000369	Low-set ears	3	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0000356	HP:0008551	Microtia	3	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0000356	HP:0000358	Posteriorly rotated ears	3	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	136
HP:0000356	HP:0000369	Low-set ears	3	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	136
HP:0000356	HP:0000369	Low-set ears	3	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.	16
HP:0000356	HP:0000369	Low-set ears	3	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0000356	HP:0008551	Microtia	3	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	8
HP:0000356	HP:0000369	Low-set ears	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0000356	HP:0000369	Low-set ears	3	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0000369	Low-set ears	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000356	HP:0008551	Microtia	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0000356	HP:0000369	Low-set ears	3	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0000356	HP:0000369	Low-set ears	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0000356	HP:0000358	Posteriorly rotated ears	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000356	HP:0000369	Low-set ears	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000356	HP:0000358	Posteriorly rotated ears	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0000356	HP:0008551	Microtia	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0000356	HP:0009904	Prominent ear helix	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0000356	HP:0000369	Low-set ears	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0000356	HP:0000369	Low-set ears	3	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	11
HP:0000356	HP:0000369	Low-set ears	3	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0000356	HP:0008544	Abnormally folded helix	3	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome		8
HP:0000356	HP:0000358	Posteriorly rotated ears	3	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000356	HP:0000358	Posteriorly rotated ears	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent	289
HP:0000356	HP:0000369	Low-set ears	3	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000356	HP:0000369	Low-set ears	3	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant	.	3
HP:0000356	HP:0000369	Low-set ears	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000358	Posteriorly rotated ears	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000369	Low-set ears	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0008551	Microtia	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000358	Posteriorly rotated ears	3	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome		4
HP:0000356	HP:0000369	Low-set ears	3	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome		4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0000356	HP:0000369	Low-set ears	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0000356	HP:0000391	Thickened helices	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0000356	HP:0000369	Low-set ears	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0000356	HP:0000358	Posteriorly rotated ears	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0000356	HP:0000369	Low-set ears	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000356	HP:0000369	Low-set ears	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000356	HP:0000369	Low-set ears	3	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0000356	HP:0000369	Low-set ears	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0000356	HP:0000369	Low-set ears	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0000356	HP:0008551	Microtia	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000356	HP:0000369	Low-set ears	3	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.	21
HP:0000356	HP:0008551	Microtia	3	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000356	HP:0000369	Low-set ears	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0000356	HP:0000369	Low-set ears	3	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent	93
HP:0000356	HP:0000369	Low-set ears	3	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000356	HP:0008551	Microtia	3	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000356	HP:0011265	Cleft earlobe	3	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000356	HP:0008551	Microtia	3	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000356	HP:0030026	Squared superior portion of helix	3	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0000356	HP:0000369	Low-set ears	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0000356	HP:0000391	Thickened helices	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0000356	HP:0000369	Low-set ears	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0000356	HP:0000369	Low-set ears	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0000356	HP:0000391	Thickened helices	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0000356	HP:0000369	Low-set ears	3	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0000356	HP:0000369	Low-set ears	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0000356	HP:0000369	Low-set ears	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000356	HP:0000369	Low-set ears	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000356	HP:0000369	Low-set ears	3	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0000356	HP:0000369	Low-set ears	3	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0000356	HP:0000369	Low-set ears	3	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0000356	HP:0008544	Abnormally folded helix	3	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000356	HP:0008551	Microtia	3	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0000356	HP:0009909	Uplifted earlobe	3	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000356	HP:0000369	Low-set ears	3	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.	25
HP:0000356	HP:0000369	Low-set ears	3	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	21
HP:0000356	HP:0002265	Large fleshy ears	3	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0000356	HP:0000369	Low-set ears	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0000356	HP:0008551	Microtia	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0000356	HP:0000369	Low-set ears	3	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent	22
HP:0000356	HP:0000369	Low-set ears	3	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.	2
HP:0000356	HP:0008551	Microtia	3	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.	2
HP:0000356	HP:0000369	Low-set ears	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0000356	HP:0000369	Low-set ears	3	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.	950
HP:0000356	HP:0008551	Microtia	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000356	HP:0000369	Low-set ears	3	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	228
HP:0000356	HP:0000369	Low-set ears	3	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0000356	HP:0008544	Abnormally folded helix	3	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000356	HP:0000369	Low-set ears	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000356	HP:0008551	Microtia	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000356	HP:0008551	Microtia	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000356	HP:0000369	Low-set ears	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent	74
HP:0000356	HP:0000369	Low-set ears	3	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0000356	HP:0000369	Low-set ears	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0000356	HP:0000369	Low-set ears	3	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000356	HP:0000369	Low-set ears	3	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0000356	HP:0000358	Posteriorly rotated ears	3	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:0000356	HP:0008551	Microtia	3	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:0000356	HP:0000358	Posteriorly rotated ears	3	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000356	HP:0000369	Low-set ears	3	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0000356	HP:0000369	Low-set ears	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0000356	HP:0000369	Low-set ears	3	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0000356	HP:0000369	Low-set ears	3	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000356	HP:0000369	Low-set ears	3	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000356	HP:0000369	Low-set ears	3	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000356	HP:0000358	Posteriorly rotated ears	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000356	HP:0000369	Low-set ears	3	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000356	HP:0000369	Low-set ears	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0000356	HP:0000395	Prominent antihelix	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000356	HP:0005103	Calcification of the auricular cartilage	3	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0000356	HP:0000369	Low-set ears	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000356	HP:0000369	Low-set ears	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000356	HP:0000369	Low-set ears	3	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.	91
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome		69
HP:0000356	HP:0000369	Low-set ears	3	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome		69
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome		127
HP:0000356	HP:0000369	Low-set ears	3	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome		127
HP:0000356	HP:0000369	Low-set ears	3	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	127
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0000356	HP:0000369	Low-set ears	3	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0000356	HP:0000369	Low-set ears	3	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0000356	HP:0000369	Low-set ears	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000356	HP:0009748	Large earlobe	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare	101
HP:0000356	HP:0000369	Low-set ears	3	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000369	Low-set ears	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0008551	Microtia	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000356	HP:0000369	Low-set ears	3	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000369	Low-set ears	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000391	Thickened helices	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000356	HP:0000369	Low-set ears	3	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000356	HP:0000369	Low-set ears	3	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0000356	HP:0000369	Low-set ears	3	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0000356	HP:0000369	Low-set ears	3	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0000356	HP:0000369	Low-set ears	3	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0000356	HP:0000369	Low-set ears	3	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000356	HP:0000369	Low-set ears	3	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000356	HP:0000369	Low-set ears	3	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000356	HP:0008551	Microtia	3	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0000356	HP:0000369	Low-set ears	3	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	183
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	72
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria		150
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000356	HP:0000369	Low-set ears	3	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria		150
HP:0000356	HP:0000369	Low-set ears	3	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000356	HP:0000369	Low-set ears	3	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000356	HP:0000369	Low-set ears	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A		166
HP:0000356	HP:0000369	Low-set ears	3	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A		166
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000356	HP:0000369	Low-set ears	3	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000356	HP:0000369	Low-set ears	3	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0000356	HP:0000369	Low-set ears	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0000356	HP:0000358	Posteriorly rotated ears	3	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0000356	HP:0000369	Low-set ears	3	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000356	HP:0000369	Low-set ears	3	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000356	HP:0000369	Low-set ears	3	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000356	HP:0000369	Low-set ears	3	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0000356	HP:0008544	Abnormally folded helix	3	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0000356	HP:0000369	Low-set ears	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0000356	HP:0000369	Low-set ears	3	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000356	HP:0000369	Low-set ears	3	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000356	HP:0000369	Low-set ears	3	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0000356	HP:0000369	Low-set ears	3	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0000356	HP:0000369	Low-set ears	3	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000356	HP:0002265	Large fleshy ears	3	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000356	HP:0008544	Abnormally folded helix	3	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000356	HP:0000369	Low-set ears	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000356	HP:0000369	Low-set ears	3	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	96
HP:0000356	HP:0011265	Cleft earlobe	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0000356	HP:0000369	Low-set ears	3	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	745
HP:0000356	HP:0000369	Low-set ears	3	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0000356	HP:0000369	Low-set ears	3	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	745
HP:0000356	HP:0000369	Low-set ears	3	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000356	HP:0000369	Low-set ears	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000356	HP:0008551	Microtia	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000369	Low-set ears	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent	43
HP:0000356	HP:0000369	Low-set ears	3	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0000356	HP:0000369	Low-set ears	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome		1952
HP:0000356	HP:0000369	Low-set ears	3	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome		1952
HP:0000356	HP:0000369	Low-set ears	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0000356	HP:0000369	Low-set ears	3	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0000356	HP:0000369	Low-set ears	3	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0000356	HP:0000369	Low-set ears	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent	40
HP:0000356	HP:0008551	Microtia	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0000356	HP:0000369	Low-set ears	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000356	HP:0008544	Abnormally folded helix	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000356	HP:0000369	Low-set ears	3	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000356	HP:0008551	Microtia	3	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0000356	HP:0008551	Microtia	3	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000356	HP:0000369	Low-set ears	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000356	HP:0000369	Low-set ears	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000356	HP:0031228	Abnormal incisura morphology	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0000356	HP:0000369	Low-set ears	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000356	HP:0000369	Low-set ears	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0000356	HP:0009748	Large earlobe	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0000356	HP:0000369	Low-set ears	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0000356	HP:0000369	Low-set ears	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome		85
HP:0000356	HP:0000369	Low-set ears	3	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome		85
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0000356	HP:0000369	Low-set ears	3	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0000356	HP:0000395	Prominent antihelix	3	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000356	HP:0009909	Uplifted earlobe	3	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000356	HP:0011261	Darwin tubercle of helix	3	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0000356	HP:0000369	Low-set ears	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0000356	HP:0000391	Thickened helices	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0000356	HP:0000369	Low-set ears	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000356	HP:0000369	Low-set ears	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0000356	HP:0000369	Low-set ears	3	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000356	HP:0009907	Attached earlobe	3	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0000356	HP:0000369	Low-set ears	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0000356	HP:0008551	Microtia	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000356	HP:0000369	Low-set ears	3	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0000356	HP:0000369	Low-set ears	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0000356	HP:0000369	Low-set ears	3	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000356	HP:0100720	Hypoplasia of the ear cartilage	3	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent	5
HP:0000356	HP:0100720	Hypoplasia of the ear cartilage	3	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000369	Low-set ears	3	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000356	HP:0009913	Aplasia/Hypoplasia of the tragus	3	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000356	HP:0011236	Angulated antihelix	3	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0000356	HP:0000369	Low-set ears	3	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0000356	HP:0000369	Low-set ears	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0000356	HP:0000369	Low-set ears	3	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0000356	HP:0000369	Low-set ears	3	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0000356	HP:0000358	Posteriorly rotated ears	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0000356	HP:0000369	Low-set ears	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0000356	HP:0000369	Low-set ears	3	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0000356	HP:0000369	Low-set ears	3	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0000356	HP:0000358	Posteriorly rotated ears	3	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0000356	HP:0000369	Low-set ears	3	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0000356	HP:0000358	Posteriorly rotated ears	3	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0000356	HP:0000369	Low-set ears	3	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0000356	HP:0000369	Low-set ears	3	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0000356	HP:0000369	Low-set ears	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0000356	HP:0008551	Microtia	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0000356	HP:0009892	Anotia	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	53
HP:0000356	HP:0000369	Low-set ears	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000356	HP:0008551	Microtia	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0000356	HP:0000369	Low-set ears	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0000356	HP:0008551	Microtia	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0000356	HP:0009892	Anotia	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	21
HP:0000356	HP:0008551	Microtia	3	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0000356	HP:0000369	Low-set ears	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0000356	HP:0008551	Microtia	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0000356	HP:0009892	Anotia	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	39
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000356	HP:0000369	Low-set ears	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000356	HP:0008551	Microtia	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000356	HP:0100720	Hypoplasia of the ear cartilage	3	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000369	Low-set ears	3	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000356	HP:0000369	Low-set ears	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000356	HP:0009748	Large earlobe	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000356	HP:0000369	Low-set ears	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:0000356	HP:0000369	Low-set ears	3	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.	4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0000356	HP:0000369	Low-set ears	3	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0000356	HP:0100663	Synotia	3	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0000356	HP:0000369	Low-set ears	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent	24
HP:0000356	HP:0000369	Low-set ears	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0000356	HP:0000369	Low-set ears	3	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040282 - Frequent	231
HP:0000356	HP:0008589	Hypoplastic helices	3	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0000356	HP:0000369	Low-set ears	3	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000356	HP:0008551	Microtia	3	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	.
HP:0000356	HP:0000369	Low-set ears	3	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0000356	HP:0008551	Microtia	3	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0000356	HP:0000369	Low-set ears	3	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000356	HP:0000369	Low-set ears	3	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000356	HP:0000369	Low-set ears	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:0000356	HP:0000391	Thickened helices	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:0000356	HP:0040080	Anteverted ears	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:0000356	HP:0008551	Microtia	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:0000356	HP:0008589	Hypoplastic helices	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:0000356	HP:0000369	Low-set ears	3	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000356	HP:0000369	Low-set ears	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000356	HP:0008551	Microtia	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000356	HP:0000369	Low-set ears	3	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0000356	HP:0000369	Low-set ears	3	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent	531
HP:0000356	HP:0008551	Microtia	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome		531
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0000356	HP:0000369	Low-set ears	3	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000369	Low-set ears	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0008551	Microtia	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000369	Low-set ears	3	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0000356	HP:0000369	Low-set ears	3	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000356	HP:0000369	Low-set ears	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0000356	HP:0000369	Low-set ears	3	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0000356	HP:0000369	Low-set ears	3	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.	75
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0000356	HP:0000369	Low-set ears	3	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0000356	HP:0000369	Low-set ears	3	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0000356	HP:0000369	Low-set ears	3	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.	65
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0000356	HP:0000369	Low-set ears	3	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0000356	HP:0000369	Low-set ears	3	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0000356	HP:0000369	Low-set ears	3	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0000356	HP:0000369	Low-set ears	3	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0000356	HP:0000369	Low-set ears	3	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0000356	HP:0000369	Low-set ears	3	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0000356	HP:0000369	Low-set ears	3	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.	106
HP:0000356	HP:0000369	Low-set ears	3	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.	106
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0000356	HP:0000369	Low-set ears	3	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0000356	HP:0000369	Low-set ears	3	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0000356	HP:0000369	Low-set ears	3	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0000356	HP:0000369	Low-set ears	3	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.	99
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0000356	HP:0000369	Low-set ears	3	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0000356	HP:0000395	Prominent antihelix	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000356	HP:0000391	Thickened helices	3	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000356	HP:0000391	Thickened helices	3	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0000356	HP:0000369	Low-set ears	3	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0000356	HP:0009748	Large earlobe	3	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.	86
HP:0000356	HP:0000369	Low-set ears	3	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.	86
HP:0000356	HP:0000369	Low-set ears	3	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0000356	HP:0000369	Low-set ears	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0000356	HP:0000369	Low-set ears	3	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0000356	HP:0008544	Abnormally folded helix	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000356	HP:0000369	Low-set ears	3	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000356	HP:0008544	Abnormally folded helix	3	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000356	HP:0009909	Uplifted earlobe	3	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0000356	HP:0000369	Low-set ears	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0000356	HP:0008551	Microtia	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0000356	HP:0008593	Prominent antitragus	3	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000356	HP:0000391	Thickened helices	3	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0000356	HP:0008544	Abnormally folded helix	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0000356	HP:0000369	Low-set ears	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0000356	HP:0002265	Large fleshy ears	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000356	HP:0008544	Abnormally folded helix	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000356	HP:0008551	Microtia	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000356	HP:0011245	Abnormality of superior crus of antihelix	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000356	HP:0011271	Prominent tragus	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000356	HP:0000369	Low-set ears	3	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000356	HP:0002265	Large fleshy ears	3	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000356	HP:0008544	Abnormally folded helix	3	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0000356	HP:0000391	Thickened helices	3	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0000356	HP:0009909	Uplifted earlobe	3	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000356	HP:0000391	Thickened helices	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000356	HP:0000369	Low-set ears	3	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0000356	HP:0000369	Low-set ears	3	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000356	HP:0000369	Low-set ears	3	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0000356	HP:0000391	Thickened helices	3	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0000356	HP:0000391	Thickened helices	3	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0000356	HP:0009748	Large earlobe	3	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0000356	HP:0000391	Thickened helices	3	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000356	HP:0008551	Microtia	3	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional	162
HP:0000356	HP:0009748	Large earlobe	3	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0000356	HP:0000369	Low-set ears	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:0000356	HP:0000369	Low-set ears	3	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare	563
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.	3
HP:0000356	HP:0000369	Low-set ears	3	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.	3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0000356	HP:0000369	Low-set ears	3	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0000356	HP:0000369	Low-set ears	3	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0000356	HP:0000369	Low-set ears	3	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0000356	HP:0009902	Cleft helix	3	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040281 - Very frequent	82
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0000356	HP:0000369	Low-set ears	3	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0000356	HP:0008544	Abnormally folded helix	3	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0000356	HP:0008589	Hypoplastic helices	3	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0000356	HP:0009902	Cleft helix	3	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0000356	HP:0000369	Low-set ears	3	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000356	HP:0008551	Microtia	3	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.	759
HP:0000356	HP:0008551	Microtia	3	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome		11
HP:0000356	HP:0000369	Low-set ears	3	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0000356	HP:0000369	Low-set ears	3	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0000356	HP:0009748	Large earlobe	3	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0000356	HP:0000369	Low-set ears	3	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0000356	HP:0000358	Posteriorly rotated ears	3	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0000356	HP:0000369	Low-set ears	3	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0000356	HP:0008551	Microtia	3	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0000356	HP:0000358	Posteriorly rotated ears	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0000356	HP:0000358	Posteriorly rotated ears	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0000356	HP:0000369	Low-set ears	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0000356	HP:0008551	Microtia	3	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0000356	HP:0008551	Microtia	3	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent	2
HP:0000356	HP:0000369	Low-set ears	3	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	1129
HP:0000356	HP:0000358	Posteriorly rotated ears	3	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.	1129
HP:0000356	HP:0000369	Low-set ears	3	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.	1129
HP:0000356	HP:0008551	Microtia	3	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.	1129
HP:0000356	HP:0008551	Microtia	3	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.	8
HP:0000356	HP:0009892	Anotia	3	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.	8
HP:0000356	HP:0008551	Microtia	3	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000356	HP:0008551	Microtia	3	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.	38
HP:0000356	HP:0008551	Microtia	3	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0000356	HP:0008551	Microtia	3	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2	.	31
HP:0000356	HP:0009892	Anotia	3	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000356	HP:0008551	Microtia	3	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0000356	HP:0000358	Posteriorly rotated ears	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0000356	HP:0000358	Posteriorly rotated ears	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000356	HP:0000369	Low-set ears	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0000356	HP:0000369	Low-set ears	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000356	HP:0000358	Posteriorly rotated ears	3	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	180
HP:0000356	HP:0000369	Low-set ears	3	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	180
HP:0000356	HP:0000358	Posteriorly rotated ears	3	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	33
HP:0000356	HP:0000369	Low-set ears	3	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	33
HP:0000356	HP:0000358	Posteriorly rotated ears	3	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	18
HP:0000356	HP:0000369	Low-set ears	3	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	18
HP:0000356	HP:0000369	Low-set ears	3	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0000356	HP:0008551	Microtia	3	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0000356	HP:0000358	Posteriorly rotated ears	3	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	213
HP:0000356	HP:0000369	Low-set ears	3	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	213
HP:0000356	HP:0000369	Low-set ears	3	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0000356	HP:0008551	Microtia	3	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0000356	HP:0000358	Posteriorly rotated ears	3	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	221
HP:0000356	HP:0000369	Low-set ears	3	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	221
HP:0000356	HP:0000369	Low-set ears	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000356	HP:0000369	Low-set ears	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0000356	HP:0000369	Low-set ears	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000356	HP:0000369	Low-set ears	3	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0000356	HP:0000369	Low-set ears	3	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0000356	HP:0000369	Low-set ears	3	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000356	HP:0000369	Low-set ears	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000356	HP:0000391	Thickened helices	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000356	HP:0008544	Abnormally folded helix	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000356	HP:0000369	Low-set ears	3	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000356	HP:0000369	Low-set ears	3	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000356	HP:0000369	Low-set ears	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000356	HP:0008544	Abnormally folded helix	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000356	HP:0000369	Low-set ears	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional	10
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000356	HP:0000369	Low-set ears	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000356	HP:0008551	Microtia	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0000356	HP:0000369	Low-set ears	3	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0000356	HP:0000369	Low-set ears	3	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0000356	HP:0000369	Low-set ears	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000356	HP:0008551	Microtia	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000369	Low-set ears	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0008551	Microtia	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000369	Low-set ears	3	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0000356	HP:0000369	Low-set ears	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000356	HP:0000369	Low-set ears	3	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000356	HP:0000369	Low-set ears	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:0000356	HP:0000369	Low-set ears	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000356	HP:0009908	Anterior creases of earlobe	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0000356	HP:0000369	Low-set ears	3	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0000356	HP:0100663	Synotia	3	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0000356	HP:0000369	Low-set ears	3	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0000356	HP:0100663	Synotia	3	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4
HP:0000356	HP:0000369	Low-set ears	3	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0000356	HP:0000369	Low-set ears	3	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.	27
HP:0000356	HP:0008551	Microtia	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0000356	HP:0000369	Low-set ears	3	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000356	HP:0000369	Low-set ears	3	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0000356	HP:0000369	Low-set ears	3	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0000356	HP:0000369	Low-set ears	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0000356	HP:0000369	Low-set ears	3	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0000356	HP:0000369	Low-set ears	3	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040281 - Very frequent	22
HP:0000356	HP:0000369	Low-set ears	3	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0000356	HP:0000369	Low-set ears	3	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0000356	HP:0000369	Low-set ears	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0000356	HP:0000391	Thickened helices	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0000356	HP:0000369	Low-set ears	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0000356	HP:0000369	Low-set ears	3	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0000356	HP:0010722	Asymmetry of the ears	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0000356	HP:0000369	Low-set ears	3	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.	1
HP:0000356	HP:0000369	Low-set ears	3	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:0000356	HP:0000369	Low-set ears	3	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0000356	HP:0009904	Prominent ear helix	3	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0000356	HP:0000369	Low-set ears	3	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0000356	HP:0000369	Low-set ears	3	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent	11
HP:0000356	HP:0008544	Abnormally folded helix	3	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0000356	HP:0000358	Posteriorly rotated ears	3	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0000356	HP:0000369	Low-set ears	3	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0000356	HP:0000369	Low-set ears	3	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0000356	HP:0000369	Low-set ears	3	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0000356	HP:0000369	Low-set ears	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0000356	HP:0000369	Low-set ears	3	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0000356	HP:0000369	Low-set ears	3	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0000356	HP:0000369	Low-set ears	3	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0000356	HP:0000369	Low-set ears	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0000356	HP:0000369	Low-set ears	3	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0000356	HP:0008593	Prominent antitragus	3	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0000356	HP:0000369	Low-set ears	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0000356	HP:0010722	Asymmetry of the ears	3	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0000356	HP:0000369	Low-set ears	3	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000356	HP:0000369	Low-set ears	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000356	HP:0000369	Low-set ears	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000356	HP:0000369	Low-set ears	3	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0000356	HP:0000369	Low-set ears	3	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0000356	HP:0000369	Low-set ears	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0000356	HP:0000391	Thickened helices	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0000356	HP:0000369	Low-set ears	3	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000356	HP:0000391	Thickened helices	3	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0000356	HP:0000369	Low-set ears	3	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome		150
HP:0000356	HP:0000369	Low-set ears	3	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome		150
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000356	HP:0000369	Low-set ears	3	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000356	HP:0000369	Low-set ears	3	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	73
HP:0000356	HP:0000369	Low-set ears	3	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0000356	HP:0000369	Low-set ears	3	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	9
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0000356	HP:0000369	Low-set ears	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0000356	HP:0000391	Thickened helices	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0000356	HP:0000369	Low-set ears	3	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent	365
HP:0000356	HP:0000391	Thickened helices	3	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040281 - Very frequent	365
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome		68
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000356	HP:0000369	Low-set ears	3	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000356	HP:0000369	Low-set ears	3	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0000356	HP:0000395	Prominent antihelix	3	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000356	HP:0000395	Prominent antihelix	3	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000356	HP:0008551	Microtia	3	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0000356	HP:0000369	Low-set ears	3	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0000356	HP:0000369	Low-set ears	3	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0009907	Attached earlobe	3	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0000356	HP:0000369	Low-set ears	3	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0000356	HP:0000395	Prominent antihelix	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000356	HP:0008544	Abnormally folded helix	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000356	HP:0000369	Low-set ears	3	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	334
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000356	HP:0000369	Low-set ears	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000356	HP:0008551	Microtia	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000356	HP:0000369	Low-set ears	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000356	HP:0000369	Low-set ears	3	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000356	HP:0000369	Low-set ears	3	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	572
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000356	HP:0008551	Microtia	3	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000356	HP:0000369	Low-set ears	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000356	HP:0008551	Microtia	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0000356	HP:0000369	Low-set ears	3	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0000356	HP:0000369	Low-set ears	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0000356	HP:0000391	Thickened helices	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0000356	HP:0000369	Low-set ears	3	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0000356	HP:0000369	Low-set ears	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0000356	HP:0000369	Low-set ears	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0000356	HP:0000369	Low-set ears	3	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.	33
HP:0000356	HP:0000369	Low-set ears	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0000356	HP:0000369	Low-set ears	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0000356	HP:0000369	Low-set ears	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0000356	HP:0000369	Low-set ears	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000356	HP:0008551	Microtia	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000356	HP:0000369	Low-set ears	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0000356	HP:0000369	Low-set ears	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000356	HP:0000369	Low-set ears	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0000356	HP:0000369	Low-set ears	3	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0000356	HP:0000369	Low-set ears	3	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0000356	HP:0000369	Low-set ears	3	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0000356	HP:0000369	Low-set ears	3	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0000356	HP:0011234	Absent antihelix	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000356	HP:0000369	Low-set ears	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:0000356	HP:0040080	Anteverted ears	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent	10
HP:0000356	HP:0000369	Low-set ears	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000356	HP:0008551	Microtia	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000356	HP:0000369	Low-set ears	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000356	HP:0008551	Microtia	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000356	HP:0000369	Low-set ears	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000356	HP:0008551	Microtia	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000356	HP:0000369	Low-set ears	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000356	HP:0008551	Microtia	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000356	HP:0000369	Low-set ears	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000356	HP:0008551	Microtia	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000356	HP:0000369	Low-set ears	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000356	HP:0008551	Microtia	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000356	HP:0000369	Low-set ears	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000356	HP:0008551	Microtia	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000356	HP:0000369	Low-set ears	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0000356	HP:0008551	Microtia	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0000356	HP:0000369	Low-set ears	3	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0000356	HP:0000369	Low-set ears	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0000356	HP:0008551	Microtia	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0000356	HP:0000369	Low-set ears	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0000356	HP:0008551	Microtia	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0000356	HP:0000369	Low-set ears	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000356	HP:0008551	Microtia	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000356	HP:0000369	Low-set ears	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0000356	HP:0008551	Microtia	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0000356	HP:0000369	Low-set ears	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0000356	HP:0008551	Microtia	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0000356	HP:0000369	Low-set ears	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000356	HP:0008551	Microtia	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000356	HP:0000369	Low-set ears	3	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000356	HP:0008544	Abnormally folded helix	3	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000356	HP:0000369	Low-set ears	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000356	HP:0008551	Microtia	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000356	HP:0000369	Low-set ears	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0000356	HP:0008551	Microtia	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000356	HP:0000369	Low-set ears	3	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000356	HP:0008551	Microtia	3	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000356	HP:0000369	Low-set ears	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000356	HP:0008551	Microtia	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000356	HP:0000369	Low-set ears	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000356	HP:0008551	Microtia	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0000356	HP:0008551	Microtia	3	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0000356	HP:0000369	Low-set ears	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000356	HP:0008551	Microtia	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000356	HP:0000369	Low-set ears	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0000356	HP:0008551	Microtia	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000369	Low-set ears	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000391	Thickened helices	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0000356	HP:0000391	Thickened helices	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000369	Low-set ears	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0008544	Abnormally folded helix	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000369	Low-set ears	3	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0000356	HP:0008551	Microtia	3	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000369	Low-set ears	3	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:0000356	HP:0000369	Low-set ears	3	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0000356	HP:0008551	Microtia	3	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000356	HP:0008551	Microtia	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000356	HP:0000369	Low-set ears	3	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000356	HP:0000369	Low-set ears	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000356	HP:0009905	Thin ear helix	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000356	HP:0000369	Low-set ears	3	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000369	Low-set ears	3	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000369	Low-set ears	3	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0000356	HP:0008544	Abnormally folded helix	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000356	HP:0008551	Microtia	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	124
HP:0000356	HP:0008544	Abnormally folded helix	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000356	HP:0008551	Microtia	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000356	HP:0011235	Additional crus of antihelix	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000356	HP:0008588	Slit-like opening of the exterior auditory meatus	3	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000356	HP:0000369	Low-set ears	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000356	HP:0000369	Low-set ears	3	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040282 - Frequent	34
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0000356	HP:0000369	Low-set ears	3	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0000356	HP:0000369	Low-set ears	3	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000356	HP:0000369	Low-set ears	3	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000356	HP:0008544	Abnormally folded helix	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000356	HP:0000369	Low-set ears	3	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000356	HP:0008544	Abnormally folded helix	3	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000356	HP:0011235	Additional crus of antihelix	3	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000356	HP:0000369	Low-set ears	3	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome		61
HP:0000356	HP:0000369	Low-set ears	3	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome		61
HP:0000356	HP:0000369	Low-set ears	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0008544	Abnormally folded helix	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000356	HP:0000369	Low-set ears	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000356	HP:0008544	Abnormally folded helix	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000356	HP:0008551	Microtia	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	16
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0000356	HP:0000369	Low-set ears	3	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0000356	HP:0000369	Low-set ears	3	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000356	HP:0000369	Low-set ears	3	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040283 - Occasional	143
HP:0000356	HP:0000369	Low-set ears	3	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.	143
HP:0000356	HP:0000369	Low-set ears	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000356	HP:0000369	Low-set ears	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0000356	HP:0009748	Large earlobe	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0000356	HP:0000369	Low-set ears	3	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000356	HP:0008551	Microtia	3	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000356	HP:0000369	Low-set ears	3	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040282 - Frequent	43
HP:0000356	HP:0000369	Low-set ears	3	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000356	HP:0008551	Microtia	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000356	HP:0009892	Anotia	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000356	HP:0009913	Aplasia/Hypoplasia of the tragus	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000356	HP:0011270	Duplicated tragus	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000356	HP:0000369	Low-set ears	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000356	HP:0008551	Microtia	3	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040281 - Very frequent	49
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0000356	HP:0000369	Low-set ears	3	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0000356	HP:0008551	Microtia	3	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent	49
HP:0000356	HP:0000369	Low-set ears	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0000356	HP:0000369	Low-set ears	3	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000356	HP:0000369	Low-set ears	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000356	HP:0000369	Low-set ears	3	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000356	HP:0008551	Microtia	3	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000356	HP:0000369	Low-set ears	3	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional	40
HP:0000356	HP:0008551	Microtia	3	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional	40
HP:0000356	HP:0000391	Thickened helices	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000356	HP:0009909	Uplifted earlobe	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000356	HP:0008551	Microtia	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000356	HP:0000369	Low-set ears	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000356	HP:0008551	Microtia	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000356	HP:0000369	Low-set ears	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	150
HP:0000356	HP:0000369	Low-set ears	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	150
HP:0000356	HP:0000369	Low-set ears	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0000356	HP:0008551	Microtia	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0000356	HP:0000369	Low-set ears	3	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000356	HP:0000395	Prominent antihelix	3	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0000356	HP:0008544	Abnormally folded helix	3	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0000356	HP:0011235	Additional crus of antihelix	3	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	2
HP:0000356	HP:0000369	Low-set ears	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0000356	HP:0000369	Low-set ears	3	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0000356	HP:0000369	Low-set ears	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	28
HP:0000356	HP:0011261	Darwin tubercle of helix	3	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000356	HP:0000369	Low-set ears	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000356	HP:0000369	Low-set ears	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000356	HP:0000369	Low-set ears	3	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional	166
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0000356	HP:0000369	Low-set ears	3	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0000356	HP:0008544	Abnormally folded helix	3	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0000356	HP:0009748	Large earlobe	3	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent	166
HP:0000356	HP:0000369	Low-set ears	3	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0000356	HP:0008551	Microtia	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0000356	HP:0000369	Low-set ears	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000356	HP:0000369	Low-set ears	3	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0000356	HP:0000369	Low-set ears	3	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0000356	HP:0000369	Low-set ears	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	9
HP:0000356	HP:0008544	Abnormally folded helix	3	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0000356	HP:0000369	Low-set ears	3	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0000356	HP:0000369	Low-set ears	3	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0000356	HP:0000369	Low-set ears	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0000356	HP:0008551	Microtia	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000356	HP:0000369	Low-set ears	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000356	HP:0008551	Microtia	3	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000356	HP:0009909	Uplifted earlobe	3	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000356	HP:0000369	Low-set ears	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000356	HP:0000369	Low-set ears	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000356	HP:0008544	Abnormally folded helix	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000356	HP:0000369	Low-set ears	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000356	HP:0009913	Aplasia/Hypoplasia of the tragus	3	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000356	HP:0000369	Low-set ears	3	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000356	HP:0000369	Low-set ears	3	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0000356	HP:0009907	Attached earlobe	3	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0000356	HP:0000369	Low-set ears	3	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0000356	HP:0000369	Low-set ears	3	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0000356	HP:0009748	Large earlobe	3	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000356	HP:0000369	Low-set ears	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0000356	HP:0000391	Thickened helices	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0000356	HP:0010722	Asymmetry of the ears	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0000356	HP:0000369	Low-set ears	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0000356	HP:0000369	Low-set ears	3	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0000356	HP:0000369	Low-set ears	3	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0000356	HP:0000369	Low-set ears	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000356	HP:0000369	Low-set ears	3	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	.	12
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0000356	HP:0000369	Low-set ears	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0000356	HP:0000391	Thickened helices	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000356	HP:0000369	Low-set ears	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000356	HP:0000391	Thickened helices	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0000356	HP:0000369	Low-set ears	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0000356	HP:0000391	Thickened helices	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0000356	HP:0000369	Low-set ears	3	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0000356	HP:0000369	Low-set ears	3	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.	11
HP:0000356	HP:0000369	Low-set ears	3	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.	11
HP:0000356	HP:0000369	Low-set ears	3	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000356	HP:0000369	Low-set ears	3	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent	109
HP:0000356	HP:0000369	Low-set ears	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0000356	HP:0000369	Low-set ears	3	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional	66
HP:0000356	HP:0000369	Low-set ears	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000356	HP:0000369	Low-set ears	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000356	HP:0008551	Microtia	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0000356	HP:0000369	Low-set ears	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000356	HP:0009748	Large earlobe	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000356	HP:0000369	Low-set ears	3	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:0000356	HP:0000391	Thickened helices	3	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000356	HP:0000369	Low-set ears	3	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000356	HP:0008551	Microtia	3	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0000356	HP:0000369	Low-set ears	3	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000369	Low-set ears	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000356	HP:0000391	Thickened helices	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000356	HP:0000369	Low-set ears	3	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0000356	HP:0000369	Low-set ears	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000356	HP:0000369	Low-set ears	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000356	HP:0000369	Low-set ears	3	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0000356	HP:0000369	Low-set ears	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0000356	HP:0000369	Low-set ears	3	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0000356	HP:0000369	Low-set ears	3	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9
HP:0000356	HP:0000369	Low-set ears	3	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000356	HP:0008551	Microtia	3	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000356	HP:0000369	Low-set ears	3	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000356	HP:0008551	Microtia	3	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000356	HP:0000369	Low-set ears	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000356	HP:0011245	Abnormality of superior crus of antihelix	3	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000356	HP:0000369	Low-set ears	3	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	71
HP:0000356	HP:0000369	Low-set ears	3	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	HP:0040283 - Occasional	71
HP:0000356	HP:0000358	Posteriorly rotated ears	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0000356	HP:0000369	Low-set ears	3	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	124
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000356	HP:0000369	Low-set ears	3	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000356	HP:0000391	Thickened helices	3	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000356	HP:0000358	Posteriorly rotated ears	3	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0000356	HP:0040080	Anteverted ears	3	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0000356	HP:0000369	Low-set ears	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	4
HP:0000356	HP:0000369	Low-set ears	3	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040282 - Frequent	11
HP:0000356	HP:0000369	Low-set ears	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000356	HP:0000391	Thickened helices	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000356	HP:0000369	Low-set ears	3	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:0000356	HP:0000369	Low-set ears	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0000356	HP:0000369	Low-set ears	3	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000356	HP:0000369	Low-set ears	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000356	HP:0002265	Large fleshy ears	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	.	2
HP:0000356	HP:0000369	Low-set ears	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000356	HP:0008544	Abnormally folded helix	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0000356	HP:0000369	Low-set ears	3	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0000356	HP:0000369	Low-set ears	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000356	HP:0000369	Low-set ears	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0000356	HP:0000369	Low-set ears	3	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0000356	HP:0000369	Low-set ears	3	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0000356	HP:0002265	Large fleshy ears	3	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0000356	HP:0009909	Uplifted earlobe	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0000356	HP:0000369	Low-set ears	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0000356	HP:0008544	Abnormally folded helix	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000356	HP:0009908	Anterior creases of earlobe	3	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0000356	HP:0000369	Low-set ears	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0000356	HP:0008551	Microtia	3	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0000356	HP:0000369	Low-set ears	3	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040281 - Very frequent	5
HP:0000356	HP:0000369	Low-set ears	3	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000356	HP:0008544	Abnormally folded helix	3	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0000356	HP:0000369	Low-set ears	3	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0000356	HP:0008544	Abnormally folded helix	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0000356	HP:0011244	Abnormality of stem of antihelix	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0000356	HP:0000391	Thickened helices	3	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0000356	HP:0000391	Thickened helices	3	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0000356	HP:0008551	Microtia	3	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000356	HP:0008551	Microtia	3	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0000356	HP:0000369	Low-set ears	3	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	45
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0000356	HP:0000369	Low-set ears	3	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0000356	HP:0000369	Low-set ears	3	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	76
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0000356	HP:0000369	Low-set ears	3	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0000356	HP:0000369	Low-set ears	3	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8	.	76
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0000356	HP:0000369	Low-set ears	3	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0000356	HP:0000369	Low-set ears	3	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.	31
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0000356	HP:0000369	Low-set ears	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0000356	HP:0008551	Microtia	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0000356	HP:0000369	Low-set ears	3	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0000356	HP:0000369	Low-set ears	3	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.	12
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0000356	HP:0000369	Low-set ears	3	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000356	HP:0000369	Low-set ears	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000356	HP:0008544	Abnormally folded helix	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000356	HP:0008551	Microtia	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000356	HP:0008589	Hypoplastic helices	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000356	HP:0000369	Low-set ears	3	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.	104
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0000356	HP:0000369	Low-set ears	3	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0000356	HP:0000369	Low-set ears	3	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0000356	HP:0008544	Abnormally folded helix	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000356	HP:0000369	Low-set ears	3	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0000356	HP:0000369	Low-set ears	3	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000356	HP:0000369	Low-set ears	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0000356	HP:0000369	Low-set ears	3	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0000356	HP:0000369	Low-set ears	3	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.	4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0000356	HP:0000369	Low-set ears	3	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0000356	HP:0000369	Low-set ears	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.	24
HP:0000356	HP:0000369	Low-set ears	3	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.	24
HP:0000356	HP:0000369	Low-set ears	3	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0000356	HP:0000369	Low-set ears	3	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0000356	HP:0000369	Low-set ears	3	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0000356	HP:0000369	Low-set ears	3	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0000356	HP:0000369	Low-set ears	3	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0000356	HP:0000369	Low-set ears	3	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0000356	HP:0000369	Low-set ears	3	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0000356	HP:0000369	Low-set ears	3	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0000356	HP:0000369	Low-set ears	3	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	82
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0000356	HP:0000369	Low-set ears	3	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0000356	HP:0000369	Low-set ears	3	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0000356	HP:0000369	Low-set ears	3	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0000356	HP:0000369	Low-set ears	3	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0000356	HP:0000369	Low-set ears	3	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	166
HP:0000356	HP:0000369	Low-set ears	3	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	166
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0000356	HP:0000369	Low-set ears	3	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0000356	HP:0000369	Low-set ears	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0000356	HP:0000369	Low-set ears	3	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040281 - Very frequent	63
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000356	HP:0000369	Low-set ears	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0000356	HP:0008544	Abnormally folded helix	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000356	HP:0009748	Large earlobe	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000356	HP:0002265	Large fleshy ears	3	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000356	HP:0000369	Low-set ears	3	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0000356	HP:0000369	Low-set ears	3	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000356	HP:0000369	Low-set ears	3	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0000356	HP:0000369	Low-set ears	3	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0000356	HP:0000395	Prominent antihelix	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000356	HP:0100720	Hypoplasia of the ear cartilage	3	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0008551	Microtia	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000356	HP:0000369	Low-set ears	3	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54
HP:0000356	HP:0000369	Low-set ears	3	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	108
HP:0000356	HP:0100720	Hypoplasia of the ear cartilage	3	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0009748	Large earlobe	3	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000356	HP:0000369	Low-set ears	3	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome		2
HP:0000356	HP:0002265	Large fleshy ears	3	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0000356	HP:0000369	Low-set ears	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome		108
HP:0000356	HP:0000369	Low-set ears	3	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome		108
HP:0000356	HP:0008544	Abnormally folded helix	3	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000356	HP:0000369	Low-set ears	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0000356	HP:0000369	Low-set ears	3	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000356	HP:0009748	Large earlobe	3	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0000356	HP:0000369	Low-set ears	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0000356	HP:0000369	Low-set ears	3	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0000356	HP:0000369	Low-set ears	3	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0000356	HP:0000369	Low-set ears	3	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000356	HP:0000369	Low-set ears	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000356	HP:0000369	Low-set ears	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000356	HP:0008551	Microtia	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000356	HP:0008551	Microtia	3	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	.	1
HP:0000356	HP:0000369	Low-set ears	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000356	HP:0000369	Low-set ears	3	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome		41
HP:0000356	HP:0000369	Low-set ears	3	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome		41
HP:0000356	HP:0040080	Anteverted ears	3	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.	11
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	106
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0000356	HP:0000369	Low-set ears	3	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0000356	HP:0000369	Low-set ears	3	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0000356	HP:0000369	Low-set ears	3	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0000356	HP:0000369	Low-set ears	3	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000356	HP:0000369	Low-set ears	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	18
HP:0000356	HP:0008551	Microtia	3	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000356	HP:0008551	Microtia	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0000356	HP:0000369	Low-set ears	3	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000356	HP:0008544	Abnormally folded helix	3	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0000356	HP:0008551	Microtia	3	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000356	HP:0008551	Microtia	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0000356	HP:0000369	Low-set ears	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0000356	HP:0008551	Microtia	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0000356	HP:0000369	Low-set ears	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0000356	HP:0008551	Microtia	3	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000356	HP:0000369	Low-set ears	3	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0000356	HP:0000369	Low-set ears	3	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0000356	HP:0000369	Low-set ears	3	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000356	HP:0000369	Low-set ears	3	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000356	HP:0000358	Posteriorly rotated ears	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0000369	Low-set ears	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000356	HP:0008551	Microtia	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000369	Low-set ears	3	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0000356	HP:0000369	Low-set ears	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0008544	Abnormally folded helix	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000356	HP:0009748	Large earlobe	3	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000356	HP:0000369	Low-set ears	3	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000356	HP:0000358	Posteriorly rotated ears	3	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria		135
HP:0000356	HP:0000369	Low-set ears	3	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria		135
HP:0000356	HP:0000358	Posteriorly rotated ears	3	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.	23
HP:0000356	HP:0000369	Low-set ears	3	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.	23
HP:0000356	HP:0000358	Posteriorly rotated ears	3	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		23
HP:0000356	HP:0000369	Low-set ears	3	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		23
HP:0000356	HP:0000369	Low-set ears	3	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	33
HP:0000356	HP:0000369	Low-set ears	3	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0000356	HP:0000358	Posteriorly rotated ears	3	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0000356	HP:0000369	Low-set ears	3	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0000356	HP:0000358	Posteriorly rotated ears	3	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0000356	HP:0000369	Low-set ears	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:0000356	HP:0000369	Low-set ears	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0000356	HP:0000369	Low-set ears	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0000356	HP:0000369	Low-set ears	3	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	2
HP:0000356	HP:0000369	Low-set ears	3	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0000356	HP:0000369	Low-set ears	3	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional	546
HP:0000356	HP:0000369	Low-set ears	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0000356	HP:0000358	Posteriorly rotated ears	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000356	HP:0000369	Low-set ears	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000356	HP:0008544	Abnormally folded helix	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000356	HP:0009748	Large earlobe	3	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0000356	HP:0000358	Posteriorly rotated ears	3	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0000356	HP:0000358	Posteriorly rotated ears	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:0000356	HP:0000358	Posteriorly rotated ears	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:0000356	HP:0000395	Prominent antihelix	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:0000356	HP:0000369	Low-set ears	3	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0000356	HP:0000369	Low-set ears	3	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0000356	HP:0000369	Low-set ears	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0000356	HP:0000369	Low-set ears	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0000356	HP:0000369	Low-set ears	3	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000356	HP:0000358	Posteriorly rotated ears	3	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome		60
HP:0000356	HP:0000369	Low-set ears	3	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome		60
HP:0000356	HP:0000369	Low-set ears	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000356	HP:0000369	Low-set ears	3	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000356	HP:0100720	Hypoplasia of the ear cartilage	3	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0009748	Large earlobe	3	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000356	HP:0100720	Hypoplasia of the ear cartilage	3	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent	14
HP:0000356	HP:0000369	Low-set ears	3	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0000356	HP:0000369	Low-set ears	3	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0000356	HP:0008551	Microtia	3	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent	12
HP:0000356	HP:0000369	Low-set ears	3	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0000356	HP:0000369	Low-set ears	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0000356	HP:0000358	Posteriorly rotated ears	3	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0000356	HP:0000369	Low-set ears	3	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000356	HP:0000369	Low-set ears	3	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0000356	HP:0000369	Low-set ears	3	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0000356	HP:0000358	Posteriorly rotated ears	3	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0000356	HP:0000369	Low-set ears	3	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0000356	HP:0000369	Low-set ears	3	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional	5
HP:0000356	HP:0000391	Thickened helices	3	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional	5
HP:0000356	HP:0000358	Posteriorly rotated ears	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.	5
HP:0000356	HP:0000369	Low-set ears	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.	5
HP:0000356	HP:0000369	Low-set ears	3	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040282 - Frequent	14
HP:0000356	HP:0000358	Posteriorly rotated ears	3	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0000356	HP:0000358	Posteriorly rotated ears	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent	7
HP:0000356	HP:0000369	Low-set ears	3	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000356	HP:0000369	Low-set ears	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0000356	HP:0000369	Low-set ears	3	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent	16
HP:0000356	HP:0000369	Low-set ears	3	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.	16
HP:0000356	HP:0005103	Calcification of the auricular cartilage	3	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent	17
HP:0000356	HP:0005103	Calcification of the auricular cartilage	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000356	HP:0008541	Superiorly displaced ears	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0000356	HP:0000369	Low-set ears	3	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	9
HP:0000356	HP:0000369	Low-set ears	3	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0000356	HP:0000369	Low-set ears	3	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000356	HP:0000369	Low-set ears	3	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000356	HP:0000369	Low-set ears	3	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	10
HP:0000356	HP:0009748	Large earlobe	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0000356	HP:0009909	Uplifted earlobe	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0000356	HP:0009909	Uplifted earlobe	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0000356	HP:0009909	Uplifted earlobe	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0000356	HP:0000369	Low-set ears	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0000356	HP:0000369	Low-set ears	3	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000356	HP:0009904	Prominent ear helix	3	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000356	HP:0009904	Prominent ear helix	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0000356	HP:0000369	Low-set ears	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0000356	HP:0000369	Low-set ears	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000356	HP:0000369	Low-set ears	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000356	HP:0008551	Microtia	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000356	HP:0008544	Abnormally folded helix	3	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0000356	HP:0000369	Low-set ears	3	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0000356	HP:0000369	Low-set ears	3	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000356	HP:0009906	Aplasia/Hypoplasia of the earlobes	3	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0000356	HP:0000369	Low-set ears	3	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0000356	HP:0000369	Low-set ears	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0008544	Abnormally folded helix	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0008551	Microtia	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0009895	Abnormality of the crus of the helix	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0000358	Posteriorly rotated ears	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000356	HP:0000369	Low-set ears	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000356	HP:0009898	Underdeveloped crus of the helix	4	CL E G H
HP:0000356	HP:0011237	Broad inferior crus of antihelix	4	CL E G H
HP:0000356	HP:0011239	Underdeveloped inferior crus of antihelix	4	CL E G H
HP:0000356	HP:0011241	Serpiginous stem of antihelix	4	CL E G H
HP:0000356	HP:0011242	Underdeveloped stem of antihelix	4	CL E G H
HP:0000356	HP:0011256	Crus of helix connected to antihelix	4	CL E G H
HP:0000356	HP:0011257	Serpiginous crus of helix	4	CL E G H
HP:0000356	HP:0011258	Tragal bridge of crus of helix	4	CL E G H
HP:0000356	HP:0011259	Expanded terminal portion of crus of helix	4	CL E G H
HP:0000356	HP:0011260	Darwin notch of helix	4	CL E G H
HP:0000356	HP:0031230	Decreased incisura length	4	CL E G H
HP:0000356	HP:0031231	Narrow incisura width	4	CL E G H
HP:0000356	HP:0031232	Increased incisura width	4	CL E G H
HP:0000356	HP:0040091	Asymmetry of the size of ears	4	CL E G H
HP:0000356	HP:0040092	Asymmetry of the shape of the ears	4	CL E G H
HP:0000356	HP:0040093	Asymmetry of the position of the ears	4	CL E G H
HP:0000356	HP:0000385	Small earlobe	4	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type	.	34
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent	34
HP:0000356	HP:0000396	Overfolded helix	4	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000356	HP:0000368	Low-set, posteriorly rotated 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:0000356	HP:0000396	Overfolded helix	4	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000356	HP:0000385	Small earlobe	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:0000356	HP:0000385	Small earlobe	4	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0000356	HP:0000396	Overfolded helix	4	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000356	HP:0000396	Overfolded helix	4	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent	219
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	29
HP:0000356	HP:0000385	Small earlobe	4	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0000356	HP:0000396	Overfolded helix	4	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0000356	HP:0000396	Overfolded helix	4	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000356	HP:0000387	Absent earlobe	4	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	168
HP:0000356	HP:0000387	Absent earlobe	4	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent	38
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000356	HP:0008569	Microtia, second degree	4	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0000356	HP:0008569	Microtia, second degree	4	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000356	HP:0000387	Absent earlobe	4	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.	29
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	114
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	118
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	71
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	97
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	87
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	25
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	66
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	119
HP:0000356	HP:0000396	Overfolded helix	4	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0000356	HP:0000396	Overfolded helix	4	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0000356	HP:0000396	Overfolded helix	4	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0000356	HP:0000396	Overfolded helix	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	276
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	85
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	3
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	247
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent	83
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0000356	HP:0011267	Microtia, third degree	4	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	9
HP:0000356	HP:0011267	Microtia, third degree	4	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	31
HP:0000356	HP:0000385	Small earlobe	4	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0000356	HP:0000396	Overfolded helix	4	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000356	HP:0011267	Microtia, third degree	4	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	50
HP:0000356	HP:0000387	Absent earlobe	4	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	20
HP:0000356	HP:0000387	Absent earlobe	4	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	161
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0000356	HP:0000387	Absent earlobe	4	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	146
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	342
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	342
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000356	HP:0000396	Overfolded helix	4	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0000356	HP:0000396	Overfolded helix	4	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000356	HP:0000396	Overfolded helix	4	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent	4
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0000356	HP:0000385	Small earlobe	4	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0000356	HP:0008577	Underfolded helix	4	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0000356	HP:0000387	Absent earlobe	4	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0000356	HP:0000385	Small earlobe	4	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0000356	HP:0000396	Overfolded helix	4	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000396	Overfolded helix	4	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0000356	HP:0000387	Absent earlobe	4	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0000396	Overfolded helix	4	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0011238	Prominent inferior crus of antihelix	4	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0000356	HP:0000396	Overfolded helix	4	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	15
HP:0000356	HP:0000396	Overfolded helix	4	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000396	Overfolded helix	4	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0000356	HP:0000396	Overfolded helix	4	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent	72
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0000356	HP:0000385	Small earlobe	4	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000356	HP:0000396	Overfolded helix	4	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	4
HP:0000356	HP:0000396	Overfolded helix	4	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000356	HP:0000396	Overfolded helix	4	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent	48
HP:0000356	HP:0011268	Absent tragus	4	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0000356	HP:0011272	Underdeveloped tragus	4	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000356	HP:0000387	Absent earlobe	4	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0000356	HP:0000387	Absent earlobe	4	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0000356	HP:0000387	Absent earlobe	4	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	96
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	81
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000356	HP:0000396	Overfolded helix	4	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000356	HP:0011267	Microtia, third degree	4	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0000356	HP:0011266	Microtia, first degree	4	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.	18
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent	172
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0000356	HP:0000396	Overfolded helix	4	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0000356	HP:0009899	Prominent crus of helix	4	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0000356	HP:0009899	Prominent crus of helix	4	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000356	HP:0009899	Prominent crus of helix	4	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0000356	HP:0000385	Small earlobe	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0000356	HP:0011246	Underdeveloped superior crus of antihelix	4	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2		493
HP:0000356	HP:0000385	Small earlobe	4	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0000356	HP:0008577	Underfolded helix	4	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0000356	HP:0000396	Overfolded helix	4	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040284 - Very rare	143
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0000356	HP:0008559	Hypoplastic superior helix	4	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000356	HP:0000396	Overfolded helix	4	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	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:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	10
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040282 - Frequent	45
HP:0000356	HP:0011272	Underdeveloped tragus	4	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	.	173
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000356	HP:0011267	Microtia, third degree	4	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	3
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000396	Overfolded helix	4	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000356	HP:0008537	Cleft at the superior portion of the pinna	4	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000356	HP:0008559	Hypoplastic superior helix	4	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000356	HP:0000396	Overfolded helix	4	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:0000356	HP:0000396	Overfolded helix	4	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000356	HP:0000385	Small earlobe	4	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0000356	HP:0000396	Overfolded helix	4	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0000356	HP:0000385	Small earlobe	4	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0000356	HP:0000396	Overfolded helix	4	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0000356	HP:0000387	Absent earlobe	4	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000356	HP:0000385	Small earlobe	4	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000356	HP:0000396	Overfolded helix	4	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000356	HP:0031229	Increased incisura length	4	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040283 - Occasional	113
HP:0000356	HP:0009899	Prominent crus of helix	4	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	345
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0000356	HP:0000396	Overfolded helix	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0000356	HP:0000396	Overfolded helix	4	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	31
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	48
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	3
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	111
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0000356	HP:0000385	Small earlobe	4	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000396	Overfolded helix	4	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000396	Overfolded helix	4	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0000356	HP:0000385	Small earlobe	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0011272	Underdeveloped tragus	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent	34
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	1
HP:0000356	HP:0000385	Small earlobe	4	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent	11
HP:0000356	HP:0000385	Small earlobe	4	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0000356	HP:0011272	Underdeveloped tragus	4	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0000356	HP:0011272	Underdeveloped tragus	4	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent	11
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0000356	HP:0000396	Overfolded helix	4	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	167
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0000356	HP:0000387	Absent earlobe	4	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000396	Overfolded helix	4	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent	8
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	4
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	178
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0000356	HP:0000396	Overfolded helix	4	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000356	HP:0011266	Microtia, first degree	4	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	69
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	127
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	127
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040282 - Frequent	150
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.	166
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0000356	HP:0000396	Overfolded helix	4	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0000356	HP:0000396	Overfolded helix	4	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	1952
HP:0000356	HP:0000396	Overfolded helix	4	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	85
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent	85
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	544
HP:0000356	HP:0009899	Prominent crus of helix	4	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000356	HP:0011272	Underdeveloped tragus	4	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000356	HP:0000387	Absent earlobe	4	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	201
HP:0000356	HP:0011267	Microtia, third degree	4	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	53
HP:0000356	HP:0011267	Microtia, third degree	4	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	21
HP:0000356	HP:0011267	Microtia, third degree	4	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	39
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0000356	HP:0000387	Absent earlobe	4	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	531
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	169
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	75
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	4
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	65
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	66
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	46
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	59
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	62
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	82
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	106
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	47
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	99
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	98
HP:0000356	HP:0000396	Overfolded helix	4	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0000356	HP:0000396	Overfolded helix	4	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0000356	HP:0000396	Overfolded helix	4	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent	37
HP:0000356	HP:0000396	Overfolded helix	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000356	HP:0011247	Prominent superior crus of antihelix	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent	37
HP:0000356	HP:0000396	Overfolded helix	4	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0000356	HP:0000396	Overfolded helix	4	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0000356	HP:0008537	Cleft at the superior portion of the pinna	4	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0000356	HP:0008559	Hypoplastic superior helix	4	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0000356	HP:0000387	Absent earlobe	4	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	11
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional	103
HP:0000356	HP:0000385	Small earlobe	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000356	HP:0000387	Absent earlobe	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000356	HP:0000387	Absent earlobe	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent	9
HP:0000356	HP:0000396	Overfolded helix	4	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000356	HP:0000396	Overfolded helix	4	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	148
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	7
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	291
HP:0000356	HP:0000385	Small earlobe	4	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.	1
HP:0000356	HP:0000396	Overfolded helix	4	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	90
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	135
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	212
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040283 - Occasional	150
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0000356	HP:0000387	Absent earlobe	4	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	68
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000356	HP:0000385	Small earlobe	4	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent	10
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000356	HP:0000396	Overfolded helix	4	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000356	HP:0008577	Underfolded helix	4	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	16
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040282 - Frequent	37
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent	167
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0000356	HP:0000396	Overfolded helix	4	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000385	Small earlobe	4	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000396	Overfolded helix	4	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000356	HP:0000396	Overfolded helix	4	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	124
HP:0000356	HP:0000396	Overfolded helix	4	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000356	HP:0100015	Stahl ear	4	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000356	HP:0000385	Small earlobe	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000356	HP:0000396	Overfolded helix	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000356	HP:0008577	Underfolded helix	4	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	61
HP:0000356	HP:0000385	Small earlobe	4	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000396	Overfolded helix	4	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0000356	HP:0000396	Overfolded helix	4	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	16
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	6
HP:0000356	HP:0011272	Underdeveloped tragus	4	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040283 - Occasional	49
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent	74
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	150
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000356	HP:0100015	Stahl ear	4	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0000356	HP:0008577	Underfolded helix	4	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0000356	HP:0000396	Overfolded helix	4	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0000356	HP:0000385	Small earlobe	4	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	55
HP:0000356	HP:0008577	Underfolded helix	4	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0000356	HP:0000396	Overfolded helix	4	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0000356	HP:0011268	Absent tragus	4	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0000356	HP:0000385	Small earlobe	4	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	4
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0000356	HP:0009899	Prominent crus of helix	4	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000396	Overfolded helix	4	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0000356	HP:0000385	Small earlobe	4	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0000356	HP:0000396	Overfolded helix	4	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0000356	HP:0011266	Microtia, first degree	4	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0000356	HP:0000396	Overfolded helix	4	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000356	HP:0000396	Overfolded helix	4	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0000356	HP:0011240	Prominent stem of antihelix	4	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0000356	HP:0011255	Absent crus of helix	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0000356	HP:0011267	Microtia, third degree	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	31
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0000356	HP:0000396	Overfolded helix	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000356	HP:0008559	Hypoplastic superior helix	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040282 - Frequent	6
HP:0000356	HP:0000396	Overfolded helix	4	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent	6
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	39
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	45
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	45
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	33
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	82
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent	82
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0000356	HP:0008577	Underfolded helix	4	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	61
HP:0000356	HP:0000387	Absent earlobe	4	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	108
HP:0000356	HP:0000396	Overfolded helix	4	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	171
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040283 - Occasional	214
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	41
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0000356	HP:0009899	Prominent crus of helix	4	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000356	HP:0009899	Prominent crus of helix	4	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0000356	HP:0000396	Overfolded helix	4	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000356	HP:0011266	Microtia, first degree	4	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0000356	HP:0011267	Microtia, third degree	4	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0000356	HP:0011266	Microtia, first degree	4	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000385	Small earlobe	4	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000396	Overfolded helix	4	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent	135
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	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:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000356	HP:0000396	Overfolded helix	4	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	60
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	14
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000356	HP:0000385	Small earlobe	4	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000356	HP:0000396	Overfolded helix	4	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0000356	HP:0000387	Absent earlobe	4	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0000356	HP:0000368	Low-set, posteriorly rotated ears	4	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	49
HP:0000356	HP:0000396	Overfolded helix	4	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0009897	Horizontal crus of helix	4	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000356	HP:0004453	Overfolding of the superior helices	5	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000356	HP:0004453	Overfolding of the superior helices	5	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0000356	HP:0004453	Overfolding of the superior helices	5	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000356	HP:0004453	Overfolding of the superior helices	5	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0000356	HP:0004453	Overfolding of the superior helices	5	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000356	HP:0008583	Underfolded superior helices	5	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0000356	HP:0008583	Underfolded superior helices	5	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122