Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
All (HP:0000001)

Parent Node:
Phenotypic abnormality (HP:0000118)

..Starting node
..Abnormality of connective tissue (HP:0003549)

Term ID:

3549

Name:

Abnormality of connective tissue

Synonym:

Definition:

Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).

Comments:

Reference:

HP:0003549

Genes and Diseases:

Child Nodes:

........

Flexion contracture (HP:0001371)

................... HP:0002803 Congenital contracture
................... HP:0002828 Multiple joint contractures
................... HP:0003121 Limb joint contracture
................... HP:0004631 Decreased cervical spine flexion due to contractures of posterior cervical muscles
................... HP:0005781 Contractures of the large joints
................... HP:0005876 Progressive flexion contractures
................... HP:0005997 Restricted neck movement due to contractures
................... HP:0030044 Flexion contracture of digit
................... HP:0100492 Joint contractures involving the joints of the feet

........

Increased connective tissue (HP:0009025)

................... HP:0009126 Increased adipose tissue

........

Abnormal adipose tissue morphology (HP:0009124)

................... HP:0000291 Abnormality of facial adipose tissue
................... HP:0001001 Abnormality of subcutaneous fat tissue
................... HP:0009125 Lipodystrophy
................... HP:0009126 Increased adipose tissue
................... HP:0012490 Panniculitis
................... HP:0025384 Diet-resistant subcutaneous adipose tissue
................... HP:0030759 Adipocyte hypertrophy
................... HP:0031451 Lower extremity subcutanous fat hypertrophy
................... HP:0040063 Decreased adipose tissue
................... HP:0200013 Neoplasm of fatty tissue

........

Musculotendinous retraction (HP:0031462)

........

Abnormal mast cell morphology (HP:0100494)

................... HP:0031408 Increased proportion of CD25+ mast cells
................... HP:0100495 Mastocytosis

........

Abnormality of the fascia (HP:0100536)

................... HP:0100537 Fasciitis

........

Cellulitis (HP:0100658)

........

Abnormal Sharpey fiber morphology (HP:0100685)

................... HP:0000934 Chondrocalcinosis
................... HP:0100686 Enthesitis

........

Scarring (HP:0100699)

................... HP:0000559 Corneal scarring
................... HP:0000987 Atypical scarring of skin
................... HP:0007777 Chorioretinal scar
................... HP:0200056 Macular scar

........

Hernia (HP:0100790)

................... HP:0000776 Congenital diaphragmatic hernia
................... HP:0002036 Hiatus hernia
................... HP:0004299 Hernia of the abdominal wall
................... HP:0100823 Genital hernia

........

Congenital mesoblastic nephroma (HP:0100881)

........

Connective tissue nevi (HP:0100898)

................... HP:0009721 Shagreen patch

........

Abnormality of odontoid tissue (HP:3000050)

................... HP:0000682 Abnormality of dental enamel
................... HP:0000703 Dentinogenesis imperfecta
................... HP:0100717 Abnormality of the cementum

Sister Nodes:

Abnormal cellular phenotype (HP:0025354)

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

Abnormality of head or neck (HP:0000152)

Abnormality of limbs (HP:0040064)

Abnormality of metabolism/homeostasis (HP:0001939)

Abnormality of prenatal development or birth (HP:0001197)

Abnormality of the breast (HP:0000769)

Abnormality of the cardiovascular system (HP:0001626)

Abnormality of the digestive system (HP:0025031)

Abnormality of the ear (HP:0000598)

Abnormality of the endocrine system (HP:0000818)

Abnormality of the eye (HP:0000478)

Abnormality of the genitourinary system (HP:0000119)

Abnormality of the immune system (HP:0002715)

Abnormality of the integument (HP:0001574)

Abnormality of the musculature (HP:0003011)

Abnormality of the nervous system (HP:0000707)

Abnormality of the respiratory system (HP:0002086)

Abnormality of the skeletal system (HP:0000924)

Abnormality of the thoracic cavity (HP:0045027)

Abnormality of the voice (HP:0001608)

Constitutional symptom (HP:0025142)

Growth abnormality (HP:0001507)

Neoplasm (HP:0002664)

obsolete Abnormal test result (HP:0500014)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy			254
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		94
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome			72
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy			208
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy			307
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome			87
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult			126
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE			17
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANKH CL E G H	56172	15492	OMIM:118600	Chondrocalcinosis 2			164
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition			164
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy			95
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L			304
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0003549	HP:0003549	Abnormality of connective tissue	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0003549	HP:0003549	Abnormality of connective tissue	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0003549	HP:0003549	Abnormality of connective tissue	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0003549	HP:0003549	Abnormality of connective tissue	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0003549	HP:0003549	Abnormality of connective tissue	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome			125
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias			125
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia			179
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0003549	HP:0003549	Abnormality of connective tissue	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia			435
HP:0003549	HP:0003549	Abnormality of connective tissue	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003549	HP:0003549	Abnormality of connective tissue	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:0003549	HP:0003549	Abnormality of connective tissue	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0003549	HP:0003549	Abnormality of connective tissue	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0003549	HP:0003549	Abnormality of connective tissue	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0003549	HP:0003549	Abnormality of connective tissue	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0003549	HP:0003549	Abnormality of connective tissue	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy			204
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0003549	HP:0003549	Abnormality of connective tissue	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0003549	HP:0003549	Abnormality of connective tissue	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive			114
HP:0003549	HP:0003549	Abnormality of connective tissue	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42			449
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A			323
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism			169
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0003549	HP:0003549	Abnormality of connective tissue	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:0003549	HP:0003549	Abnormality of connective tissue	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement			42
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement			42
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome			61
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12			16
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome			71
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa			129
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease			373
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2			243
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type			284
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy			104
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0003549	HP:0003549	Abnormality of connective tissue	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation			60
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation			145
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy			1496
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy			1496
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy			55
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy			358
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy			747
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DSPP CL E G H	1834	3054	OMIM:125490	Dentinogenesis imperfecta 1			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0003549	HP:0003549	Abnormality of connective tissue	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B			600
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia			115
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia			56
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia			79
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ENAM CL E G H	10117	3344	OMIM:104500	Amelogenesis imperfecta, type IB			50
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC			50
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERGIC1 CL E G H	57222	29205	OMIM:208100	Arthrogryposis multiplex congenita, Neurogenic type
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia			36
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0003549	HP:0003549	Abnormality of connective tissue	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0003549	Abnormality of connective tissue	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A			303
HP:0003549	HP:0003549	Abnormality of connective tissue	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A			303
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome			16
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FAM83H CL E G H	286077	24797	OMIM:130900	Amelogenesis imperfecta, type III			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		1361
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy			36
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI			61
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy			184
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4			184
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome			332
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome			493
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome			47
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly			198
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome			198
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal			17
HP:0003549	HP:0003549	Abnormality of connective tissue	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia			137
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy			35
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism			51
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type			52
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia			56
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			128
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJC2 CL E G H	57165	17494	OMIM:613480	Lymphedema, hereditary, IC			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II			16
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia			18
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1			18
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome			33
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures			274
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0003549	HP:0003549	Abnormality of connective tissue	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HOXD13 CL E G H	3239	5136	OMIM:610713	BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD			25
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5			25
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V			25
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing			55
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis			196
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0003549	HP:0003549	Abnormality of connective tissue	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0003549	HP:0003549	Abnormality of connective tissue	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0003549	HP:0003549	Abnormality of connective tissue	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0003549	HP:0003549	Abnormality of connective tissue	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0003549	HP:0003549	Abnormality of connective tissue	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			79
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			124
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0003549	HP:0003549	Abnormality of connective tissue	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity			145
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3			42
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLK4 CL E G H	9622	6365	OMIM:204700	Amelogenesis imperfecta, hypomaturation type, iia1			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin			100
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			110
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			173
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0003549	HP:0003549	Abnormality of connective tissue	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome			116
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy			279
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA			167
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6			136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy			286
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia			26
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy			92
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis			281
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism			462
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MET CL E G H	4233	7029	OMIM:620019				375
HP:0003549	HP:0003549	Abnormality of connective tissue	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis			203
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MMP20 CL E G H	9313	7167	OMIM:612529	Amelogenesis imperfecta, hypomaturation type, iia2			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B			66
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4			66
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy			1143
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		418
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			418
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2			418
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia			105
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy			452
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy			1269
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7			93
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT			93
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		326
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			326
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy			217
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II			67
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NCSTN CL E G H	23385	17091	OMIM:142690	Acne inversa, familial			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia			30
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy			167
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis			144
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2			19
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome			231
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia			58
HP:0003549	HP:0003549	Abnormality of connective tissue	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:0003549	HP:0003549	Abnormality of connective tissue	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis			28
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1			169
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome			107
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated			21
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q			759
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy			57
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1			213
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy			148
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2			58
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		41
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy			241
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy			59
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy			212
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy			363
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0003549	HP:0003549	Abnormality of connective tissue	0	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0003549	HP:0003549	Abnormality of connective tissue	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0003549	HP:0003549	Abnormality of connective tissue	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome			57
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome			57
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5			55
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy			1134
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy			304
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3			132
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy			223
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome			73
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta			73
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC24A4 CL E G H	123041	10978	OMIM:615887	Amelogenesis imperfecta, hypomaturation type, iia5			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type			36
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)			36
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome			178
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG			24
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1			59
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia			81
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		260
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		504
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			174
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SP6 CL E G H	80320	14530	OMIM:620104
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0003549	HP:0003549	Abnormality of connective tissue	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003549	HP:0003549	Abnormality of connective tissue	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:0003549	HP:0003549	Abnormality of connective tissue	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy			78
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G			78
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia			82
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		162
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		85
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFBI CL E G H	7045	11771	OMIM:602082	Corneal dystrophy of bowman layer, type II			58
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		239
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent		253
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis			98
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1			98
HP:0003549	HP:0003549	Abnormality of connective tissue	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy			136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition			44
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis			131
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy			73
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy			180
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like			134
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy			140
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome			140
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy			230
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1			108
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia			133
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques			151
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism			214
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy			7128
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy			7128
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy			85
HP:0003549	HP:0003549	Abnormality of connective tissue	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0003549	HP:0003549	Abnormality of connective tissue	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0003549	HP:0003549	Abnormality of connective tissue	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0003549	HP:0003549	Abnormality of connective tissue	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0003549	HP:0003549	Abnormality of connective tissue	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0003549	HP:0003549	Abnormality of connective tissue	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0003549	HP:0003549	Abnormality of connective tissue	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to			111
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele			111
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to			2
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0003549	HP:0003549	Abnormality of connective tissue	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3			137
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia			71
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome			4
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome			177
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0003549	HP:0003549	Abnormality of connective tissue	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0003549	HP:0003549	Abnormality of connective tissue	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0003549	HP:0003549	Abnormality of connective tissue	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3			8
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZFPM2 CL E G H	23414	16700	OMIM:610187	DIAPHRAGMATIC HERNIA 3; DIH3			31
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0003549	HP:0003549	Abnormality of connective tissue	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0003549	HP:0031462	Musculotendinous retraction	1	CL E G H
HP:0003549	HP:0100881	Congenital mesoblastic nephroma	1	CL E G H
HP:0003549	HP:0100699	Scarring	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0003549	HP:0034392	Joint contracture	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0003549	HP:0100790	Hernia	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy			254
HP:0003549	HP:0100790	Hernia	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0003549	HP:0100790	Hernia	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0003549	HP:0034392	Joint contracture	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0003549	HP:0034392	Joint contracture	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0003549	HP:0100790	Hernia	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0003549	HP:0034392	Joint contracture	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0003549	HP:0034392	Joint contracture	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0003549	HP:0100790	Hernia	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0003549	HP:0034392	Joint contracture	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0003549	HP:0034392	Joint contracture	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0003549	HP:0034392	Joint contracture	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J			7
HP:0003549	HP:0034392	Joint contracture	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0003549	HP:0034392	Joint contracture	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0003549	HP:0034392	Joint contracture	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0003549	HP:0034392	Joint contracture	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0003549	HP:0034392	Joint contracture	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0003549	HP:0009025	Increased connective tissue	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal	.		96
HP:0003549	HP:0034392	Joint contracture	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0003549	HP:0034392	Joint contracture	1	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0003549	HP:0034392	Joint contracture	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0003549	HP:0009025	Increased connective tissue	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0003549	HP:0034392	Joint contracture	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0003549	HP:0100790	Hernia	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome			72
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy			208
HP:0003549	HP:0034392	Joint contracture	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0100790	Hernia	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0100790	Hernia	1	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			23
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy			307
HP:0003549	HP:0100699	Scarring	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0003549	HP:0100699	Scarring	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0003549	HP:0100790	Hernia	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0003549	HP:0100790	Hernia	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0003549	HP:0034392	Joint contracture	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0003549	HP:0100699	Scarring	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0003549	HP:0100790	Hernia	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0003549	HP:0034392	Joint contracture	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003549	HP:0034392	Joint contracture	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0003549	HP:0034392	Joint contracture	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0100790	Hernia	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0034392	Joint contracture	1	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8			2
HP:0003549	HP:0034392	Joint contracture	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0003549	HP:0034392	Joint contracture	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0003549	HP:0100790	Hernia	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0003549	HP:0100658	Cellulitis	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0003549	HP:0100699	Scarring	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003549	HP:0100790	Hernia	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003549	HP:0100658	Cellulitis	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0003549	HP:0100699	Scarring	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0003549	HP:0100790	Hernia	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0003549	HP:0100790	Hernia	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0003549	HP:0100790	Hernia	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0003549	HP:0100699	Scarring	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0003549	HP:0100658	Cellulitis	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0003549	HP:0100790	Hernia	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0003549	HP:0034392	Joint contracture	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0003549	HP:0034392	Joint contracture	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0003549	HP:0100699	Scarring	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0003549	HP:0100699	Scarring	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0003549	HP:0034392	Joint contracture	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0003549	HP:0009025	Increased connective tissue	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent		60
HP:0003549	HP:0034392	Joint contracture	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0003549	HP:0034392	Joint contracture	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0003549	HP:0034392	Joint contracture	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0003549	HP:0009025	Increased connective tissue	1	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0003549	HP:0034392	Joint contracture	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0003549	HP:0100790	Hernia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional		89
HP:0003549	HP:0034392	Joint contracture	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0003549	HP:0100790	Hernia	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.		89
HP:0003549	HP:0100790	Hernia	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0003549	HP:0100790	Hernia	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0003549	HP:0100790	Hernia	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome			87
HP:0003549	HP:0034392	Joint contracture	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0003549	HP:0034392	Joint contracture	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional		41
HP:0003549	HP:0034392	Joint contracture	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare		68
HP:0003549	HP:0034392	Joint contracture	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0003549	HP:0034392	Joint contracture	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			12
HP:0003549	HP:0034392	Joint contracture	1	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15			12
HP:0003549	HP:0034392	Joint contracture	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0003549	HP:0034392	Joint contracture	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			46
HP:0003549	HP:0034392	Joint contracture	1	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14			46
HP:0003549	HP:0034392	Joint contracture	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0003549	HP:0034392	Joint contracture	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0003549	HP:0034392	Joint contracture	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0003549	HP:0034392	Joint contracture	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0003549	HP:0100790	Hernia	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0003549	HP:0034392	Joint contracture	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0003549	HP:0100790	Hernia	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult			126
HP:0003549	HP:0034392	Joint contracture	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0003549	HP:0034392	Joint contracture	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0003549	HP:0034392	Joint contracture	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0003549	HP:0034392	Joint contracture	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0034392	Joint contracture	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0034392	Joint contracture	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F			2
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE			17
HP:0003549	HP:0034392	Joint contracture	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003549	HP:0100790	Hernia	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003549	HP:0100790	Hernia	1	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome			9
HP:0003549	HP:0100790	Hernia	1	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II			9
HP:0003549	HP:0100790	Hernia	1	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome			8
HP:0003549	HP:0100790	Hernia	1	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II			8
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0003549	HP:0100790	Hernia	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	ANKH CL E G H	56172	15492	OMIM:118600	Chondrocalcinosis 2			164
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition			164
HP:0003549	HP:0034392	Joint contracture	1	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy			95
HP:0003549	HP:0034392	Joint contracture	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003549	HP:0034392	Joint contracture	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0003549	HP:0009025	Increased connective tissue	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.		304
HP:0003549	HP:0100790	Hernia	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0003549	HP:0100790	Hernia	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0003549	HP:0034392	Joint contracture	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0003549	HP:0034392	Joint contracture	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003549	HP:0034392	Joint contracture	1	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0003549	HP:0034392	Joint contracture	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0003549	HP:0100790	Hernia	1	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome			13
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0003549	HP:0034392	Joint contracture	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0003549	HP:0034392	Joint contracture	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0003549	HP:0034392	Joint contracture	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0003549	HP:0100699	Scarring	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0003549	HP:0100699	Scarring	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0003549	HP:0034392	Joint contracture	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0100790	Hernia	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0100790	Hernia	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome			125
HP:0003549	HP:0100790	Hernia	1	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias			125
HP:0003549	HP:0100790	Hernia	1	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent
HP:0003549	HP:0100790	Hernia	1	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		179
HP:0003549	HP:0100699	Scarring	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0003549	HP:0100790	Hernia	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0003549	HP:0100790	Hernia	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0003549	HP:0034392	Joint contracture	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0003549	HP:0100790	Hernia	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0003549	HP:0100790	Hernia	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0003549	HP:0100790	Hernia	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0003549	HP:0100699	Scarring	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0003549	HP:0100699	Scarring	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0003549	HP:0100699	Scarring	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0003549	HP:0100658	Cellulitis	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0003549	HP:0034392	Joint contracture	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0100790	Hernia	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0034392	Joint contracture	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0003549	HP:0100790	Hernia	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0003549	HP:0100790	Hernia	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0003549	HP:0100790	Hernia	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0003549	HP:0034392	Joint contracture	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0003549	HP:0100790	Hernia	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0003549	HP:0034392	Joint contracture	1	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0003549	HP:0034392	Joint contracture	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0003549	HP:0034392	Joint contracture	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0003549	HP:0034392	Joint contracture	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0003549	HP:0034392	Joint contracture	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0003549	HP:0034392	Joint contracture	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0100790	Hernia	1	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent
HP:0003549	HP:0034392	Joint contracture	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0003549	HP:0100790	Hernia	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0003549	HP:0034392	Joint contracture	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0003549	HP:0100790	Hernia	1	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0003549	HP:0034392	Joint contracture	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0003549	HP:0100790	Hernia	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0003549	HP:0100790	Hernia	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0003549	HP:0100790	Hernia	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0003549	HP:0100790	Hernia	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0003549	HP:0100790	Hernia	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0003549	HP:0034392	Joint contracture	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0003549	HP:0100790	Hernia	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0003549	HP:0100790	Hernia	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0003549	HP:0034392	Joint contracture	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0003549	HP:0100699	Scarring	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0003549	HP:0100790	Hernia	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent		192
HP:0003549	HP:0100699	Scarring	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0003549	HP:0100790	Hernia	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0003549	HP:0100790	Hernia	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0003549	HP:0034392	Joint contracture	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0003549	HP:0034392	Joint contracture	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0003549	HP:0034392	Joint contracture	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0003549	HP:0100790	Hernia	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0003549	HP:0034392	Joint contracture	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0003549	HP:0100790	Hernia	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0003549	HP:0034392	Joint contracture	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0003549	HP:0100790	Hernia	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia			435
HP:0003549	HP:0034392	Joint contracture	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0003549	HP:0034392	Joint contracture	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0003549	HP:0100699	Scarring	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0003549	HP:0034392	Joint contracture	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0003549	HP:0034392	Joint contracture	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003549	HP:0034392	Joint contracture	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:0003549	HP:0100790	Hernia	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:0003549	HP:0100790	Hernia	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0003549	HP:0100790	Hernia	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0003549	HP:0034392	Joint contracture	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0003549	HP:0100699	Scarring	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0003549	HP:0034392	Joint contracture	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0003549	HP:0100699	Scarring	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0003549	HP:0034392	Joint contracture	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy			204
HP:0003549	HP:0034392	Joint contracture	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0034392	Joint contracture	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0003549	HP:0100699	Scarring	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0003549	HP:0100699	Scarring	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0003549	HP:0034392	Joint contracture	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0003549	HP:0100790	Hernia	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0003549	HP:0034392	Joint contracture	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0003549	HP:0034392	Joint contracture	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0003549	HP:0034392	Joint contracture	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0100790	Hernia	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0034392	Joint contracture	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0003549	HP:0034392	Joint contracture	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0100790	Hernia	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0100699	Scarring	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0003549	HP:0034392	Joint contracture	1	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome			7
HP:0003549	HP:0034392	Joint contracture	1	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex			4
HP:0003549	HP:0100790	Hernia	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0003549	HP:0034392	Joint contracture	1	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0003549	HP:0034392	Joint contracture	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0003549	HP:0034392	Joint contracture	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0003549	HP:0034392	Joint contracture	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0003549	HP:0034392	Joint contracture	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0003549	HP:0100658	Cellulitis	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		4
HP:0003549	HP:0034392	Joint contracture	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0003549	HP:0100790	Hernia	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0003549	HP:0034392	Joint contracture	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0003549	HP:0100790	Hernia	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0003549	HP:0034392	Joint contracture	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0003549	HP:0034392	Joint contracture	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0003549	HP:0100790	Hernia	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0003549	HP:0100790	Hernia	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0003549	HP:0100790	Hernia	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0003549	HP:0100790	Hernia	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0003549	HP:0034392	Joint contracture	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0003549	HP:0100790	Hernia	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0003549	HP:0100790	Hernia	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0003549	HP:0034392	Joint contracture	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0003549	HP:0100790	Hernia	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0003549	HP:0100658	Cellulitis	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040282 - Frequent		109
HP:0003549	HP:0100699	Scarring	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0003549	HP:0034392	Joint contracture	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0003549	HP:0034392	Joint contracture	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0003549	HP:0034392	Joint contracture	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive			114
HP:0003549	HP:0100699	Scarring	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0003549	HP:0100790	Hernia	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0003549	HP:0100699	Scarring	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			15
HP:0003549	HP:0100790	Hernia	1	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2			7
HP:0003549	HP:0100699	Scarring	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			7
HP:0003549	HP:0100699	Scarring	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0003549	HP:0034392	Joint contracture	1	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42			449
HP:0003549	HP:0034392	Joint contracture	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0003549	HP:0034392	Joint contracture	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0003549	HP:0034392	Joint contracture	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0003549	HP:0100790	Hernia	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0003549	HP:0034392	Joint contracture	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0034392	Joint contracture	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0034392	Joint contracture	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A			323
HP:0003549	HP:0100699	Scarring	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0003549	HP:0034392	Joint contracture	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0003549	HP:0034392	Joint contracture	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0100790	Hernia	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0100790	Hernia	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0003549	HP:0034392	Joint contracture	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0003549	HP:0034392	Joint contracture	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0003549	HP:0034392	Joint contracture	1	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis			11
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0003549	HP:0034392	Joint contracture	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0003549	HP:0100790	Hernia	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040283 - Occasional		242
HP:0003549	HP:0100790	Hernia	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0003549	HP:0100790	Hernia	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0003549	HP:0034392	Joint contracture	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0003549	HP:0100790	Hernia	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0003549	HP:0034392	Joint contracture	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0003549	HP:0100790	Hernia	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0003549	HP:0034392	Joint contracture	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0003549	HP:0034392	Joint contracture	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0003549	HP:0034392	Joint contracture	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0003549	HP:0034392	Joint contracture	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0003549	HP:0034392	Joint contracture	1	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0034392	Joint contracture	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003549	HP:0034392	Joint contracture	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003549	HP:0034392	Joint contracture	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0003549	HP:0034392	Joint contracture	1	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0034392	Joint contracture	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0003549	HP:0100658	Cellulitis	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		9
HP:0003549	HP:0100658	Cellulitis	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		6
HP:0003549	HP:0100790	Hernia	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0003549	HP:0100790	Hernia	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0003549	HP:0034392	Joint contracture	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0003549	HP:0100790	Hernia	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0003549	HP:0034392	Joint contracture	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0003549	HP:0100790	Hernia	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0003549	HP:0100790	Hernia	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0003549	HP:0034392	Joint contracture	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0003549	HP:0034392	Joint contracture	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism			169
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0003549	HP:0100790	Hernia	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0003549	HP:0100790	Hernia	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0003549	HP:0034392	Joint contracture	1	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0003549	HP:0100699	Scarring	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0003549	HP:0034392	Joint contracture	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0003549	HP:0034392	Joint contracture	1	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0003549	HP:0100790	Hernia	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0003549	HP:0100790	Hernia	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0003549	HP:0100790	Hernia	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0003549	HP:0034392	Joint contracture	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0003549	HP:0034392	Joint contracture	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0003549	HP:0034392	Joint contracture	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0003549	HP:0034392	Joint contracture	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0003549	HP:0034392	Joint contracture	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0003549	HP:0100790	Hernia	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0003549	HP:0034392	Joint contracture	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0003549	HP:0100699	Scarring	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0003549	HP:0100699	Scarring	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0003549	HP:0100699	Scarring	1	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0003549	HP:0034392	Joint contracture	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0003549	HP:0034392	Joint contracture	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0003549	HP:0100790	Hernia	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0003549	HP:0034392	Joint contracture	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0003549	HP:0034392	Joint contracture	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0003549	HP:0009025	Increased connective tissue	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0003549	HP:0100790	Hernia	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0003549	HP:0034392	Joint contracture	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0003549	HP:0034392	Joint contracture	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0003549	HP:0034392	Joint contracture	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0003549	HP:0034392	Joint contracture	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0003549	HP:0034392	Joint contracture	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0003549	HP:0034392	Joint contracture	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0003549	HP:0034392	Joint contracture	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0003549	HP:0034392	Joint contracture	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0003549	HP:0034392	Joint contracture	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0100790	Hernia	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0034392	Joint contracture	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0100790	Hernia	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0034392	Joint contracture	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0003549	HP:0034392	Joint contracture	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0003549	HP:0100699	Scarring	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0003549	HP:0100790	Hernia	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0003549	HP:0034392	Joint contracture	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0003549	HP:0100699	Scarring	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0003549	HP:0100790	Hernia	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0003549	HP:0034392	Joint contracture	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0003549	HP:0034392	Joint contracture	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:0003549	HP:0100790	Hernia	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:0003549	HP:0034392	Joint contracture	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003549	HP:0100790	Hernia	1	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0003549	HP:0034392	Joint contracture	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0003549	HP:0034392	Joint contracture	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0003549	HP:0100790	Hernia	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0003549	HP:0100699	Scarring	1	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0003549	HP:0034392	Joint contracture	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0003549	HP:0100790	Hernia	1	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement			42
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement			42
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis			3
HP:0003549	HP:0034392	Joint contracture	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome			7
HP:0003549	HP:0034392	Joint contracture	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0003549	HP:0100658	Cellulitis	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		38
HP:0003549	HP:0100699	Scarring	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0003549	HP:0100699	Scarring	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0003549	HP:0100699	Scarring	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome			61
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0003549	HP:0034392	Joint contracture	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0003549	HP:0034392	Joint contracture	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0003549	HP:0034392	Joint contracture	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0003549	HP:0034392	Joint contracture	1	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12			16
HP:0003549	HP:0034392	Joint contracture	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0003549	HP:0034392	Joint contracture	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome			71
HP:0003549	HP:0034392	Joint contracture	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0100790	Hernia	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0034392	Joint contracture	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0003549	HP:0100790	Hernia	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0003549	HP:0034392	Joint contracture	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0100790	Hernia	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0034392	Joint contracture	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0003549	HP:0034392	Joint contracture	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0100699	Scarring	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0034392	Joint contracture	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0003549	HP:0100699	Scarring	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0003549	HP:0034392	Joint contracture	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0003549	HP:0034392	Joint contracture	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0034392	Joint contracture	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0003549	HP:0034392	Joint contracture	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0003549	HP:0100699	Scarring	1	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0003549	HP:0100699	Scarring	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0003549	HP:0100699	Scarring	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa			129
HP:0003549	HP:0034392	Joint contracture	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0003549	HP:0100699	Scarring	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0003549	HP:0100699	Scarring	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0003549	HP:0100790	Hernia	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0003549	HP:0100658	Cellulitis	1	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040281 - Very frequent		373
HP:0003549	HP:0100699	Scarring	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0003549	HP:0100790	Hernia	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0003549	HP:0100790	Hernia	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0003549	HP:0100699	Scarring	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0003549	HP:0100699	Scarring	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		243
HP:0003549	HP:0100790	Hernia	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0003549	HP:0100699	Scarring	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0003549	HP:0100790	Hernia	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0003549	HP:0100699	Scarring	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2			243
HP:0003549	HP:0100699	Scarring	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0003549	HP:0100790	Hernia	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0003549	HP:0034392	Joint contracture	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0003549	HP:0034392	Joint contracture	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type			284
HP:0003549	HP:0034392	Joint contracture	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0003549	HP:0034392	Joint contracture	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0003549	HP:0100790	Hernia	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0003549	HP:0100790	Hernia	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0003549	HP:0100699	Scarring	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003549	HP:0100790	Hernia	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003549	HP:0034392	Joint contracture	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0003549	HP:0100699	Scarring	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0003549	HP:0100699	Scarring	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0003549	HP:0100790	Hernia	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0003549	HP:0100699	Scarring	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0003549	HP:0100790	Hernia	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0003549	HP:0100699	Scarring	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0003549	HP:0100790	Hernia	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0003549	HP:0100699	Scarring	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0003549	HP:0100790	Hernia	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0003549	HP:0100699	Scarring	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0003549	HP:0100790	Hernia	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0003549	HP:0100699	Scarring	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0003549	HP:0100790	Hernia	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0003549	HP:0034392	Joint contracture	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0100699	Scarring	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0034392	Joint contracture	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0034392	Joint contracture	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0003549	HP:0034392	Joint contracture	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0003549	HP:0034392	Joint contracture	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0100699	Scarring	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0034392	Joint contracture	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0034392	Joint contracture	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0003549	HP:0034392	Joint contracture	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0003549	HP:0034392	Joint contracture	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0003549	HP:0034392	Joint contracture	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0100699	Scarring	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0034392	Joint contracture	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0034392	Joint contracture	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0003549	HP:0034392	Joint contracture	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0003549	HP:0100699	Scarring	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0003549	HP:0034392	Joint contracture	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0003549	HP:0100699	Scarring	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0003549	HP:0034392	Joint contracture	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0003549	HP:0100699	Scarring	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0003549	HP:0100699	Scarring	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional		263
HP:0003549	HP:0100699	Scarring	1	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant			263
HP:0003549	HP:0034392	Joint contracture	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0003549	HP:0100699	Scarring	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0003549	HP:0100699	Scarring	1	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form			263
HP:0003549	HP:0100699	Scarring	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0003549	HP:0100699	Scarring	1	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa			263
HP:0003549	HP:0100699	Scarring	1	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn			263
HP:0003549	HP:0100790	Hernia	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0003549	HP:0100790	Hernia	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0003549	HP:0100790	Hernia	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0003549	HP:0034392	Joint contracture	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0003549	HP:0100790	Hernia	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0003549	HP:0100790	Hernia	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0003549	HP:0100790	Hernia	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0100699	Scarring	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0003549	HP:0034392	Joint contracture	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0003549	HP:0100699	Scarring	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0003549	HP:0034392	Joint contracture	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0003549	HP:0100790	Hernia	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0003549	HP:0034392	Joint contracture	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0003549	HP:0100699	Scarring	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0003549	HP:0100699	Scarring	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0003549	HP:0100699	Scarring	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0003549	HP:0034392	Joint contracture	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0100790	Hernia	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0034392	Joint contracture	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0003549	HP:0034392	Joint contracture	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0003549	HP:0034392	Joint contracture	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0003549	HP:0100699	Scarring	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy			46
HP:0003549	HP:0034392	Joint contracture	1	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related			46
HP:0003549	HP:0034392	Joint contracture	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy			104
HP:0003549	HP:0100790	Hernia	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0034392	Joint contracture	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003549	HP:0100790	Hernia	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003549	HP:0034392	Joint contracture	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003549	HP:0100790	Hernia	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0003549	HP:0100699	Scarring	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003549	HP:0034392	Joint contracture	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0100790	Hernia	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0003549	HP:0100790	Hernia	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0003549	HP:0100658	Cellulitis	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040284 - Very rare		9
HP:0003549	HP:0100658	Cellulitis	1	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.		27
HP:0003549	HP:0100658	Cellulitis	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.		111
HP:0003549	HP:0100699	Scarring	1	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040282 - Frequent		2
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0003549	HP:0100790	Hernia	1	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis			2
HP:0003549	HP:0034392	Joint contracture	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0003549	HP:0034392	Joint contracture	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0003549	HP:0034392	Joint contracture	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0003549	HP:0034392	Joint contracture	1	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation			60
HP:0003549	HP:0034392	Joint contracture	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0003549	HP:0034392	Joint contracture	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation			145
HP:0003549	HP:0034392	Joint contracture	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0003549	HP:0034392	Joint contracture	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003549	HP:0034392	Joint contracture	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0003549	HP:0100790	Hernia	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0003549	HP:0034392	Joint contracture	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy			263
HP:0003549	HP:0100790	Hernia	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0100790	Hernia	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0100790	Hernia	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0034392	Joint contracture	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0003549	HP:0100790	Hernia	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0003549	HP:0100699	Scarring	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0003549	HP:0034392	Joint contracture	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0003549	HP:0034392	Joint contracture	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003549	HP:0100699	Scarring	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0003549	HP:0100790	Hernia	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0003549	HP:0100790	Hernia	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0003549	HP:0034392	Joint contracture	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0003549	HP:0034392	Joint contracture	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0003549	HP:0034392	Joint contracture	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0003549	HP:0034392	Joint contracture	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0003549	HP:0100790	Hernia	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0003549	HP:0034392	Joint contracture	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0100790	Hernia	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0034392	Joint contracture	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0100790	Hernia	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0034392	Joint contracture	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0003549	HP:0034392	Joint contracture	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0003549	HP:0034392	Joint contracture	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0003549	HP:0034392	Joint contracture	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0003549	HP:0034392	Joint contracture	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0100790	Hernia	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4			48
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome			48
HP:0003549	HP:0034392	Joint contracture	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy			1496
HP:0003549	HP:0034392	Joint contracture	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy			1496
HP:0003549	HP:0034392	Joint contracture	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0003549	HP:0100790	Hernia	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0003549	HP:0034392	Joint contracture	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0003549	HP:0034392	Joint contracture	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0003549	HP:0100790	Hernia	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0003549	HP:0034392	Joint contracture	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0003549	HP:0034392	Joint contracture	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0003549	HP:0100790	Hernia	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0003549	HP:0100790	Hernia	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0003549	HP:0100790	Hernia	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0003549	HP:0034392	Joint contracture	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy			55
HP:0003549	HP:0034392	Joint contracture	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0003549	HP:0034392	Joint contracture	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			38
HP:0003549	HP:0034392	Joint contracture	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0003549	HP:0100790	Hernia	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0003549	HP:0034392	Joint contracture	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0003549	HP:0100790	Hernia	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0003549	HP:0034392	Joint contracture	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0003549	HP:0034392	Joint contracture	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0003549	HP:0034392	Joint contracture	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0003549	HP:0034392	Joint contracture	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0003549	HP:0034392	Joint contracture	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0003549	HP:0100790	Hernia	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0003549	HP:0034392	Joint contracture	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0003549	HP:0100699	Scarring	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0003549	HP:0100790	Hernia	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy			358
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy			747
HP:0003549	HP:0034392	Joint contracture	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1			38
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II			38
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	DSPP CL E G H	1834	3054	OMIM:125490	Dentinogenesis imperfecta 1			38
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III			38
HP:0003549	HP:0034392	Joint contracture	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0003549	HP:0100699	Scarring	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0003549	HP:0100790	Hernia	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0003549	HP:0100790	Hernia	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0003549	HP:0100790	Hernia	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0003549	HP:0034392	Joint contracture	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0003549	HP:0034392	Joint contracture	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0100790	Hernia	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0100790	Hernia	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0003549	HP:0034392	Joint contracture	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003549	HP:0100790	Hernia	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003549	HP:0034392	Joint contracture	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0100790	Hernia	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0034392	Joint contracture	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0003549	HP:0100790	Hernia	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0003549	HP:0034392	Joint contracture	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0003549	HP:0100790	Hernia	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0003549	HP:0100790	Hernia	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003549	HP:0100790	Hernia	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003549	HP:0100790	Hernia	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0003549	HP:0034392	Joint contracture	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0003549	HP:0009025	Increased connective tissue	1	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.		600
HP:0003549	HP:0034392	Joint contracture	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003549	HP:0100699	Scarring	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003549	HP:0034392	Joint contracture	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0034392	Joint contracture	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0003549	HP:0100699	Scarring	1	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040281 - Very frequent		14
HP:0003549	HP:0100699	Scarring	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia			115
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia			56
HP:0003549	HP:0034392	Joint contracture	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0003549	HP:0100790	Hernia	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0003549	HP:0034392	Joint contracture	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0100790	Hernia	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0100790	Hernia	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent		45
HP:0003549	HP:0100790	Hernia	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0003549	HP:0034392	Joint contracture	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0100790	Hernia	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0100790	Hernia	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0003549	HP:0100790	Hernia	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0003549	HP:0100790	Hernia	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0003549	HP:0034392	Joint contracture	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0003549	HP:0100658	Cellulitis	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		79
HP:0003549	HP:0100658	Cellulitis	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional		79
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0003549	HP:0100790	Hernia	1	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous			3
HP:0003549	HP:0100790	Hernia	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional		172
HP:0003549	HP:0100790	Hernia	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0003549	HP:0100790	Hernia	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0003549	HP:0100790	Hernia	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0003549	HP:0034392	Joint contracture	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003549	HP:0100790	Hernia	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003549	HP:0034392	Joint contracture	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0003549	HP:0100790	Hernia	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0003549	HP:0034392	Joint contracture	1	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0003549	HP:0034392	Joint contracture	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0003549	HP:0034392	Joint contracture	1	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0003549	HP:0100790	Hernia	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ENAM CL E G H	10117	3344	OMIM:104500	Amelogenesis imperfecta, type IB			50
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC			50
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0003549	HP:0100790	Hernia	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0003549	HP:0034392	Joint contracture	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0003549	HP:0100699	Scarring	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0003549	HP:0100699	Scarring	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0003549	HP:0034392	Joint contracture	1	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0003549	HP:0034392	Joint contracture	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0003549	HP:0100658	Cellulitis	1	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent		3
HP:0003549	HP:0100699	Scarring	1	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease			3
HP:0003549	HP:0034392	Joint contracture	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0003549	HP:0034392	Joint contracture	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0003549	HP:0034392	Joint contracture	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0034392	Joint contracture	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0003549	HP:0100699	Scarring	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0003549	HP:0034392	Joint contracture	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0034392	Joint contracture	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0034392	Joint contracture	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0034392	Joint contracture	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003549	HP:0100790	Hernia	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003549	HP:0034392	Joint contracture	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0003549	HP:0034392	Joint contracture	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003549	HP:0100790	Hernia	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003549	HP:0034392	Joint contracture	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0003549	HP:0100699	Scarring	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0003549	HP:0100790	Hernia	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0003549	HP:0034392	Joint contracture	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0003549	HP:0100699	Scarring	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0003549	HP:0034392	Joint contracture	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0003549	HP:0034392	Joint contracture	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0034392	Joint contracture	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003549	HP:0034392	Joint contracture	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0003549	HP:0100699	Scarring	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0003549	HP:0034392	Joint contracture	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0003549	HP:0100699	Scarring	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0003549	HP:0034392	Joint contracture	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0003549	HP:0100699	Scarring	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003549	HP:0034392	Joint contracture	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0034392	Joint contracture	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0100699	Scarring	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0034392	Joint contracture	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0003549	HP:0100699	Scarring	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0003549	HP:0034392	Joint contracture	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0003549	HP:0100699	Scarring	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0003549	HP:0034392	Joint contracture	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0003549	HP:0034392	Joint contracture	1	ERGIC1 CL E G H	57222	29205	OMIM:208100	Arthrogryposis multiplex congenita, Neurogenic type
HP:0003549	HP:0034392	Joint contracture	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003549	HP:0034392	Joint contracture	1	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0003549	HP:0034392	Joint contracture	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0003549	HP:0034392	Joint contracture	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0003549	HP:0100790	Hernia	1	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		36
HP:0003549	HP:0034392	Joint contracture	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0003549	HP:0034392	Joint contracture	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0003549	HP:0100790	Hernia	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0034392	Joint contracture	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0003549	HP:0034392	Joint contracture	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0003549	HP:0034392	Joint contracture	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0003549	HP:0034392	Joint contracture	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0003549	HP:0034392	Joint contracture	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0003549	HP:0034392	Joint contracture	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0003549	HP:0034392	Joint contracture	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0003549	HP:0034392	Joint contracture	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0003549	HP:0034392	Joint contracture	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0003549	HP:0034392	Joint contracture	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0003549	HP:0034392	Joint contracture	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0003549	HP:0034392	Joint contracture	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0003549	HP:0100699	Scarring	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0003549	HP:0034392	Joint contracture	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0034392	Joint contracture	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0003549	HP:0100790	Hernia	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0100790	Hernia	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0003549	HP:0034392	Joint contracture	1	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A			303
HP:0003549	HP:0034392	Joint contracture	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A			303
HP:0003549	HP:0100699	Scarring	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome			16
HP:0003549	HP:0034392	Joint contracture	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FAM83H CL E G H	286077	24797	OMIM:130900	Amelogenesis imperfecta, type III			22
HP:0003549	HP:0034392	Joint contracture	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0003549	HP:0100790	Hernia	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0003549	HP:0100790	Hernia	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0003549	HP:0100790	Hernia	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0003549	HP:0100790	Hernia	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0003549	HP:0034392	Joint contracture	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0003549	HP:0100790	Hernia	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0003549	HP:0100790	Hernia	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0003549	HP:0100790	Hernia	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0003549	HP:0100790	Hernia	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0003549	HP:0100790	Hernia	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0003549	HP:0100790	Hernia	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0003549	HP:0100790	Hernia	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0003549	HP:0100790	Hernia	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0003549	HP:0034392	Joint contracture	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0003549	HP:0034392	Joint contracture	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0003549	HP:0034392	Joint contracture	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0003549	HP:0100790	Hernia	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional		63
HP:0003549	HP:0100790	Hernia	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent		63
HP:0003549	HP:0100790	Hernia	1	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA			63
HP:0003549	HP:0100790	Hernia	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0003549	HP:0034392	Joint contracture	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0003549	HP:0100790	Hernia	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0003549	HP:0034392	Joint contracture	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0003549	HP:0034392	Joint contracture	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0100790	Hernia	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0003549	HP:0034392	Joint contracture	1	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0034392	Joint contracture	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0100790	Hernia	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0034392	Joint contracture	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0003549	HP:0034392	Joint contracture	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0034392	Joint contracture	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0034392	Joint contracture	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0100790	Hernia	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0034392	Joint contracture	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0003549	HP:0034392	Joint contracture	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003549	HP:0034392	Joint contracture	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:0100699	Scarring	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:0034392	Joint contracture	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0100790	Hernia	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0003549	HP:0100790	Hernia	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0003549	HP:0034392	Joint contracture	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0003549	HP:0034392	Joint contracture	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0003549	HP:0034392	Joint contracture	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0003549	HP:0034392	Joint contracture	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0003549	HP:0034392	Joint contracture	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0003549	HP:0034392	Joint contracture	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0003549	HP:0100790	Hernia	1	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly			172
HP:0003549	HP:0034392	Joint contracture	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0003549	HP:0034392	Joint contracture	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia			172
HP:0003549	HP:0100790	Hernia	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0003549	HP:0100790	Hernia	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0003549	HP:0034392	Joint contracture	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0003549	HP:0100790	Hernia	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0003549	HP:0034392	Joint contracture	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0003549	HP:0100790	Hernia	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0003549	HP:0034392	Joint contracture	1	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0003549	HP:0034392	Joint contracture	1	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0003549	HP:0034392	Joint contracture	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0003549	HP:0034392	Joint contracture	1	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe			68
HP:0003549	HP:0034392	Joint contracture	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0003549	HP:0034392	Joint contracture	1	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant			68
HP:0003549	HP:0034392	Joint contracture	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0003549	HP:0034392	Joint contracture	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy			36
HP:0003549	HP:0034392	Joint contracture	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0003549	HP:0100790	Hernia	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0003549	HP:0034392	Joint contracture	1	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0003549	HP:0034392	Joint contracture	1	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0003549	HP:0034392	Joint contracture	1	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0003549	HP:0034392	Joint contracture	1	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI			61
HP:0003549	HP:0100790	Hernia	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0003549	HP:0100699	Scarring	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0003549	HP:0100790	Hernia	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040282 - Frequent		13
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0003549	HP:0034392	Joint contracture	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0003549	HP:0034392	Joint contracture	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0003549	HP:0034392	Joint contracture	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0003549	HP:0034392	Joint contracture	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0003549	HP:0034392	Joint contracture	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0003549	HP:0034392	Joint contracture	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0003549	HP:0034392	Joint contracture	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy			184
HP:0003549	HP:0034392	Joint contracture	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0003549	HP:0034392	Joint contracture	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0003549	HP:0034392	Joint contracture	1	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4			184
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome			332
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0003549	HP:0100790	Hernia	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome			493
HP:0003549	HP:0034392	Joint contracture	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003549	HP:0034392	Joint contracture	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0100699	Scarring	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003549	HP:0100790	Hernia	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0003549	HP:0100790	Hernia	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0003549	HP:0100790	Hernia	1	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction			493
HP:0003549	HP:0034392	Joint contracture	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0100790	Hernia	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0100790	Hernia	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0003549	HP:0100790	Hernia	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0003549	HP:0100790	Hernia	1	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		493
HP:0003549	HP:0034392	Joint contracture	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0034392	Joint contracture	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0003549	HP:0100790	Hernia	1	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent		493
HP:0003549	HP:0100790	Hernia	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0003549	HP:0100790	Hernia	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0003549	HP:0034392	Joint contracture	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0003549	HP:0100658	Cellulitis	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0003549	HP:0100658	Cellulitis	1	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040282 - Frequent		90
HP:0003549	HP:0034392	Joint contracture	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0003549	HP:0034392	Joint contracture	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0003549	HP:0034392	Joint contracture	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome			47
HP:0003549	HP:0100790	Hernia	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0003549	HP:0100658	Cellulitis	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.		20
HP:0003549	HP:0100790	Hernia	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0003549	HP:0100790	Hernia	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0003549	HP:0034392	Joint contracture	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0003549	HP:0034392	Joint contracture	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0003549	HP:0034392	Joint contracture	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0003549	HP:0034392	Joint contracture	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0003549	HP:0034392	Joint contracture	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0003549	HP:0100790	Hernia	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0003549	HP:0100790	Hernia	1	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly			198
HP:0003549	HP:0100790	Hernia	1	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome			198
HP:0003549	HP:0100790	Hernia	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0003549	HP:0100699	Scarring	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0003549	HP:0100790	Hernia	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0003549	HP:0034392	Joint contracture	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0003549	HP:0100790	Hernia	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0003549	HP:0034392	Joint contracture	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0003549	HP:0034392	Joint contracture	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal			17
HP:0003549	HP:0034392	Joint contracture	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0100790	Hernia	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0100790	Hernia	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0003549	HP:0034392	Joint contracture	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0003549	HP:0034392	Joint contracture	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0003549	HP:0100790	Hernia	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0003549	HP:0100790	Hernia	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1			46
HP:0003549	HP:0034392	Joint contracture	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003549	HP:0034392	Joint contracture	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0003549	HP:0034392	Joint contracture	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0003549	HP:0034392	Joint contracture	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0003549	HP:0034392	Joint contracture	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0003549	HP:0100699	Scarring	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent		29
HP:0003549	HP:0009025	Increased connective tissue	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0003549	HP:0100658	Cellulitis	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia	.		137
HP:0003549	HP:0100790	Hernia	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0003549	HP:0100790	Hernia	1	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia			37
HP:0003549	HP:0100790	Hernia	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0003549	HP:0100790	Hernia	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent		37
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy			35
HP:0003549	HP:0034392	Joint contracture	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0003549	HP:0034392	Joint contracture	1	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0003549	HP:0034392	Joint contracture	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0003549	HP:0034392	Joint contracture	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0003549	HP:0034392	Joint contracture	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0003549	HP:0034392	Joint contracture	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism			51
HP:0003549	HP:0034392	Joint contracture	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0003549	HP:0034392	Joint contracture	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0003549	HP:0034392	Joint contracture	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0003549	HP:0100790	Hernia	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0003549	HP:0100790	Hernia	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0003549	HP:0034392	Joint contracture	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type			52
HP:0003549	HP:0034392	Joint contracture	1	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0003549	HP:0100658	Cellulitis	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		56
HP:0003549	HP:0034392	Joint contracture	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0003549	HP:0034392	Joint contracture	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0003549	HP:0034392	Joint contracture	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			128
HP:0003549	HP:0034392	Joint contracture	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0003549	HP:0034392	Joint contracture	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0003549	HP:0034392	Joint contracture	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0003549	HP:0034392	Joint contracture	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0100790	Hernia	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0003549	HP:0034392	Joint contracture	1	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3			68
HP:0003549	HP:0034392	Joint contracture	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0003549	HP:0034392	Joint contracture	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0003549	HP:0034392	Joint contracture	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0003549	HP:0100699	Scarring	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0003549	HP:0034392	Joint contracture	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0003549	HP:0100699	Scarring	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0003549	HP:0034392	Joint contracture	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003549	HP:0100699	Scarring	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003549	HP:0034392	Joint contracture	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003549	HP:0100699	Scarring	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003549	HP:0100658	Cellulitis	1	GJC2 CL E G H	57165	17494	OMIM:613480	Lymphedema, hereditary, IC	.		37
HP:0003549	HP:0100658	Cellulitis	1	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040282 - Frequent		37
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional		120
HP:0003549	HP:0100790	Hernia	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0003549	HP:0100790	Hernia	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0003549	HP:0034392	Joint contracture	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0003549	HP:0034392	Joint contracture	1	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1			45
HP:0003549	HP:0034392	Joint contracture	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0003549	HP:0034392	Joint contracture	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0003549	HP:0034392	Joint contracture	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0003549	HP:0034392	Joint contracture	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0003549	HP:0100790	Hernia	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0003549	HP:0034392	Joint contracture	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0100790	Hernia	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0100790	Hernia	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0034392	Joint contracture	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0003549	HP:0100790	Hernia	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0003549	HP:0034392	Joint contracture	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0003549	HP:0100790	Hernia	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0003549	HP:0100790	Hernia	1	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent		63
HP:0003549	HP:0100790	Hernia	1	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1			63
HP:0003549	HP:0100790	Hernia	1	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent		46
HP:0003549	HP:0100790	Hernia	1	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0003549	HP:0034392	Joint contracture	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0003549	HP:0034392	Joint contracture	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0003549	HP:0100790	Hernia	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0003549	HP:0034392	Joint contracture	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0003549	HP:0034392	Joint contracture	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			34
HP:0003549	HP:0034392	Joint contracture	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II			16
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II			16
HP:0003549	HP:0100790	Hernia	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0003549	HP:0034392	Joint contracture	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0100790	Hernia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0100790	Hernia	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0003549	HP:0034392	Joint contracture	1	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0003549	HP:0034392	Joint contracture	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003549	HP:0100790	Hernia	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003549	HP:0034392	Joint contracture	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0003549	HP:0100790	Hernia	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0003549	HP:0034392	Joint contracture	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0003549	HP:0034392	Joint contracture	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0003549	HP:0034392	Joint contracture	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0003549	HP:0100790	Hernia	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0003549	HP:0100790	Hernia	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0003549	HP:0100790	Hernia	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional		52
HP:0003549	HP:0034392	Joint contracture	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0003549	HP:0100790	Hernia	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0003549	HP:0034392	Joint contracture	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0100790	Hernia	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0100790	Hernia	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0003549	HP:0034392	Joint contracture	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0100790	Hernia	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0100790	Hernia	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003549	HP:0100790	Hernia	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040283 - Occasional		99
HP:0003549	HP:0100790	Hernia	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0003549	HP:0100790	Hernia	1	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent		18
HP:0003549	HP:0100790	Hernia	1	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1			18
HP:0003549	HP:0034392	Joint contracture	1	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6			3
HP:0003549	HP:0034392	Joint contracture	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome			33
HP:0003549	HP:0034392	Joint contracture	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0003549	HP:0034392	Joint contracture	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0003549	HP:0034392	Joint contracture	1	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0003549	HP:0100790	Hernia	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0003549	HP:0100790	Hernia	1	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures			274
HP:0003549	HP:0100790	Hernia	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0003549	HP:0100790	Hernia	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0003549	HP:0034392	Joint contracture	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0003549	HP:0034392	Joint contracture	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003549	HP:0100790	Hernia	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003549	HP:0034392	Joint contracture	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0100790	Hernia	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0100790	Hernia	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0100790	Hernia	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0100790	Hernia	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0100699	Scarring	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0003549	HP:0100790	Hernia	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0003549	HP:0034392	Joint contracture	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0003549	HP:0100790	Hernia	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0003549	HP:0034392	Joint contracture	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0003549	HP:0100790	Hernia	1	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia			4
HP:0003549	HP:0100790	Hernia	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0003549	HP:0100790	Hernia	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0003549	HP:0034392	Joint contracture	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0003549	HP:0100790	Hernia	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0003549	HP:0034392	Joint contracture	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0034392	Joint contracture	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003549	HP:0034392	Joint contracture	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0003549	HP:0034392	Joint contracture	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0003549	HP:0100790	Hernia	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0003549	HP:0100790	Hernia	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0003549	HP:0100790	Hernia	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0003549	HP:0100790	Hernia	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0003549	HP:0100790	Hernia	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0003549	HP:0034392	Joint contracture	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0100790	Hernia	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0100790	Hernia	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0003549	HP:0034392	Joint contracture	1	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0003549	HP:0100790	Hernia	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0003549	HP:0100790	Hernia	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0003549	HP:0100699	Scarring	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0003549	HP:0100790	Hernia	1	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0003549	HP:0034392	Joint contracture	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0003549	HP:0034392	Joint contracture	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0003549	HP:0100790	Hernia	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0003549	HP:0100790	Hernia	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0003549	HP:0100699	Scarring	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1			4
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003549	HP:0034392	Joint contracture	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0003549	HP:0034392	Joint contracture	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis			2
HP:0003549	HP:0100699	Scarring	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0003549	HP:0100790	Hernia	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0003549	HP:0034392	Joint contracture	1	HOXD13 CL E G H	3239	5136	OMIM:610713	BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD			25
HP:0003549	HP:0034392	Joint contracture	1	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5			25
HP:0003549	HP:0034392	Joint contracture	1	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V			25
HP:0003549	HP:0034392	Joint contracture	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0100790	Hernia	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0003549	HP:0034392	Joint contracture	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003549	HP:0034392	Joint contracture	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0003549	HP:0034392	Joint contracture	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003549	HP:0034392	Joint contracture	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0003549	HP:0034392	Joint contracture	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0003549	HP:0034392	Joint contracture	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0003549	HP:0034392	Joint contracture	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0003549	HP:0034392	Joint contracture	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003549	HP:0100790	Hernia	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003549	HP:0034392	Joint contracture	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003549	HP:0100790	Hernia	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003549	HP:0034392	Joint contracture	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0003549	HP:0100790	Hernia	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0003549	HP:0100790	Hernia	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0003549	HP:0100790	Hernia	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0003549	HP:0034392	Joint contracture	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0003549	HP:0034392	Joint contracture	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0003549	HP:0034392	Joint contracture	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0003549	HP:0100699	Scarring	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0003549	HP:0100699	Scarring	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0003549	HP:0034392	Joint contracture	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0100790	Hernia	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0034392	Joint contracture	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0100790	Hernia	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0034392	Joint contracture	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0003549	HP:0100790	Hernia	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0003549	HP:0034392	Joint contracture	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0003549	HP:0034392	Joint contracture	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0003549	HP:0100790	Hernia	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0003549	HP:0100790	Hernia	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent		115
HP:0003549	HP:0034392	Joint contracture	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0100790	Hernia	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0100790	Hernia	1	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040281 - Very frequent		115
HP:0003549	HP:0034392	Joint contracture	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0003549	HP:0100898	Connective tissue nevi	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0003549	HP:0100898	Connective tissue nevi	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0003549	HP:0100790	Hernia	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0003549	HP:0100699	Scarring	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0003549	HP:0100790	Hernia	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0003549	HP:0100699	Scarring	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0003549	HP:0100790	Hernia	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0003549	HP:0100790	Hernia	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0003549	HP:0100699	Scarring	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0003549	HP:0100790	Hernia	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0003549	HP:0100790	Hernia	1	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia			9
HP:0003549	HP:0100790	Hernia	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0003549	HP:0100790	Hernia	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0003549	HP:0100658	Cellulitis	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		7
HP:0003549	HP:0034392	Joint contracture	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0003549	HP:0100658	Cellulitis	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0003549	HP:0034392	Joint contracture	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0100699	Scarring	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0003549	HP:0100790	Hernia	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis			14
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis			196
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0003549	HP:0100658	Cellulitis	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0003549	HP:0034392	Joint contracture	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0003549	HP:0034392	Joint contracture	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003549	HP:0100658	Cellulitis	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5			1
HP:0003549	HP:0034392	Joint contracture	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0003549	HP:0034392	Joint contracture	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0003549	HP:0100699	Scarring	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0003549	HP:0034392	Joint contracture	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0003549	HP:0100699	Scarring	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0003549	HP:0100699	Scarring	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0003549	HP:0100790	Hernia	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0003549	HP:0009025	Increased connective tissue	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0003549	HP:0034392	Joint contracture	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0003549	HP:0034392	Joint contracture	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0100699	Scarring	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0034392	Joint contracture	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0100790	Hernia	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0034392	Joint contracture	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0003549	HP:0034392	Joint contracture	1	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis			4
HP:0003549	HP:0100790	Hernia	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia			99
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0003549	HP:0100790	Hernia	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0003549	HP:0100790	Hernia	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy			2
HP:0003549	HP:0034392	Joint contracture	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0003549	HP:0034392	Joint contracture	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			79
HP:0003549	HP:0034392	Joint contracture	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0003549	HP:0034392	Joint contracture	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0003549	HP:0100699	Scarring	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0003549	HP:0034392	Joint contracture	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0003549	HP:0100699	Scarring	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0003549	HP:0100699	Scarring	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			124
HP:0003549	HP:0034392	Joint contracture	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0003549	HP:0100699	Scarring	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0003549	HP:0034392	Joint contracture	1	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H			8
HP:0003549	HP:0100790	Hernia	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0003549	HP:0034392	Joint contracture	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0003549	HP:0100790	Hernia	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0003549	HP:0034392	Joint contracture	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0003549	HP:0034392	Joint contracture	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0003549	HP:0034392	Joint contracture	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0003549	HP:0034392	Joint contracture	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0003549	HP:0034392	Joint contracture	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0003549	HP:0100790	Hernia	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0003549	HP:0100790	Hernia	1	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity			145
HP:0003549	HP:0034392	Joint contracture	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0003549	HP:0100790	Hernia	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0003549	HP:0034392	Joint contracture	1	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0003549	HP:0034392	Joint contracture	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0003549	HP:0100790	Hernia	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0003549	HP:0034392	Joint contracture	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0003549	HP:0034392	Joint contracture	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0003549	HP:0100790	Hernia	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0003549	HP:0034392	Joint contracture	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0034392	Joint contracture	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0003549	HP:0100790	Hernia	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0003549	HP:0100790	Hernia	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0003549	HP:0100790	Hernia	1	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia			1
HP:0003549	HP:0100790	Hernia	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0003549	HP:0034392	Joint contracture	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0100790	Hernia	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0034392	Joint contracture	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0003549	HP:0034392	Joint contracture	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0003549	HP:0100790	Hernia	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0003549	HP:0034392	Joint contracture	1	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0100790	Hernia	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0003549	HP:0034392	Joint contracture	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0003549	HP:0100699	Scarring	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0003549	HP:0034392	Joint contracture	1	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG			4
HP:0003549	HP:0100658	Cellulitis	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0003549	HP:0034392	Joint contracture	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0003549	HP:0034392	Joint contracture	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0003549	HP:0034392	Joint contracture	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0003549	HP:0034392	Joint contracture	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0003549	HP:0034392	Joint contracture	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0003549	HP:0034392	Joint contracture	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0003549	HP:0034392	Joint contracture	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0003549	HP:0100790	Hernia	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0003549	HP:0100790	Hernia	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0003549	HP:0100790	Hernia	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0003549	HP:0034392	Joint contracture	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003549	HP:0034392	Joint contracture	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0003549	HP:0100699	Scarring	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0003549	HP:0034392	Joint contracture	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0003549	HP:0034392	Joint contracture	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0003549	HP:0034392	Joint contracture	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0003549	HP:0034392	Joint contracture	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0003549	HP:0009025	Increased connective tissue	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0003549	HP:0034392	Joint contracture	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0003549	HP:0034392	Joint contracture	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0003549	HP:0034392	Joint contracture	1	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0003549	HP:0034392	Joint contracture	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0003549	HP:0009025	Increased connective tissue	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0003549	HP:0034392	Joint contracture	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0003549	HP:0034392	Joint contracture	1	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3			42
HP:0003549	HP:0100699	Scarring	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0003549	HP:0034392	Joint contracture	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	KLK4 CL E G H	9622	6365	OMIM:204700	Amelogenesis imperfecta, hypomaturation type, iia1			6
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0003549	HP:0034392	Joint contracture	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0003549	HP:0100790	Hernia	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0003549	HP:0100790	Hernia	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0003549	HP:0100790	Hernia	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0003549	HP:0100790	Hernia	1	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome			1
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0003549	HP:0034392	Joint contracture	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0003549	HP:0034392	Joint contracture	1	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0003549	HP:0034392	Joint contracture	1	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin			100
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0003549	HP:0100699	Scarring	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0003549	HP:0100699	Scarring	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0003549	HP:0100699	Scarring	1	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			110
HP:0003549	HP:0100699	Scarring	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0003549	HP:0034392	Joint contracture	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:0034392	Joint contracture	1	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0003549	HP:0100699	Scarring	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0003549	HP:0100699	Scarring	1	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			173
HP:0003549	HP:0100699	Scarring	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0003549	HP:0034392	Joint contracture	1	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0003549	HP:0034392	Joint contracture	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0003549	HP:0034392	Joint contracture	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0003549	HP:0034392	Joint contracture	1	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0003549	HP:0034392	Joint contracture	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0003549	HP:0034392	Joint contracture	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100790	Hernia	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0034392	Joint contracture	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0003549	HP:0009025	Increased connective tissue	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent		411
HP:0003549	HP:0034392	Joint contracture	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0003549	HP:0034392	Joint contracture	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0003549	HP:0100699	Scarring	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0003549	HP:0100699	Scarring	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome			116
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy			279
HP:0003549	HP:0034392	Joint contracture	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA			167
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0003549	HP:0100699	Scarring	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0003549	HP:0034392	Joint contracture	1	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0003549	HP:0100699	Scarring	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0003549	HP:0100699	Scarring	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0003549	HP:0100699	Scarring	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0003549	HP:0034392	Joint contracture	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0003549	HP:0034392	Joint contracture	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0003549	HP:0034392	Joint contracture	1	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6			136
HP:0003549	HP:0034392	Joint contracture	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0003549	HP:0100790	Hernia	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0003549	HP:0034392	Joint contracture	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22			1
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy			286
HP:0003549	HP:0100790	Hernia	1	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0003549	HP:0034392	Joint contracture	1	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome			68
HP:0003549	HP:0034392	Joint contracture	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0003549	HP:0100699	Scarring	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0003549	HP:0100898	Connective tissue nevi	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040280 - Obligate		68
HP:0003549	HP:0100898	Connective tissue nevi	1	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome	.		68
HP:0003549	HP:0100699	Scarring	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis			68
HP:0003549	HP:0100790	Hernia	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0034392	Joint contracture	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0100790	Hernia	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0034392	Joint contracture	1	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0034392	Joint contracture	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0003549	HP:0100790	Hernia	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0003549	HP:0100790	Hernia	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0003549	HP:0034392	Joint contracture	1	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0003549	HP:0034392	Joint contracture	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003549	HP:0034392	Joint contracture	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0003549	HP:0009025	Increased connective tissue	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W	.		10
HP:0003549	HP:0009025	Increased connective tissue	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0003549	HP:0034392	Joint contracture	1	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0003549	HP:0034392	Joint contracture	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0003549	HP:0034392	Joint contracture	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0034392	Joint contracture	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0009025	Increased connective tissue	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003549	HP:0034392	Joint contracture	1	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0003549	HP:0034392	Joint contracture	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0003549	HP:0034392	Joint contracture	1	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy			645
HP:0003549	HP:0100658	Cellulitis	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional		645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0003549	HP:0009025	Increased connective tissue	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0003549	HP:0034392	Joint contracture	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0009025	Increased connective tissue	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0034392	Joint contracture	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0003549	HP:0034392	Joint contracture	1	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0003549	HP:0034392	Joint contracture	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0034392	Joint contracture	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0003549	HP:0100790	Hernia	1	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0003549	HP:0034392	Joint contracture	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0003549	HP:0034392	Joint contracture	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0003549	HP:0009025	Increased connective tissue	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0003549	HP:0034392	Joint contracture	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0003549	HP:0034392	Joint contracture	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0003549	HP:0100790	Hernia	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003549	HP:0100790	Hernia	1	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia			8
HP:0003549	HP:0034392	Joint contracture	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0003549	HP:0100790	Hernia	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0003549	HP:0034392	Joint contracture	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0003549	HP:0034392	Joint contracture	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0003549	HP:0100699	Scarring	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0003549	HP:0100699	Scarring	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0003549	HP:0100790	Hernia	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0003549	HP:0100790	Hernia	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia			26
HP:0003549	HP:0100658	Cellulitis	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		3
HP:0003549	HP:0034392	Joint contracture	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0003549	HP:0034392	Joint contracture	1	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0003549	HP:0100790	Hernia	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0003549	HP:0100790	Hernia	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0003549	HP:0100790	Hernia	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0003549	HP:0034392	Joint contracture	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy			92
HP:0003549	HP:0034392	Joint contracture	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0034392	Joint contracture	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0003549	HP:0100790	Hernia	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0003549	HP:0034392	Joint contracture	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0003549	HP:0100790	Hernia	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0003549	HP:0034392	Joint contracture	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0003549	HP:0034392	Joint contracture	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0003549	HP:0034392	Joint contracture	1	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003549	HP:0100790	Hernia	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003549	HP:0034392	Joint contracture	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0003549	HP:0034392	Joint contracture	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0003549	HP:0100699	Scarring	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0003549	HP:0100790	Hernia	1	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias			5
HP:0003549	HP:0034392	Joint contracture	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0003549	HP:0100790	Hernia	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0003549	HP:0100790	Hernia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0003549	HP:0100790	Hernia	1	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent
HP:0003549	HP:0034392	Joint contracture	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0009025	Increased connective tissue	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.		2
HP:0003549	HP:0100790	Hernia	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0003549	HP:0034392	Joint contracture	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003549	HP:0100699	Scarring	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003549	HP:0034392	Joint contracture	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0003549	HP:0100699	Scarring	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0003549	HP:0034392	Joint contracture	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0100790	Hernia	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0100790	Hernia	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0003549	HP:0100790	Hernia	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0003549	HP:0100790	Hernia	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0003549	HP:0100790	Hernia	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0003549	HP:0034392	Joint contracture	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0100790	Hernia	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0100790	Hernia	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0003549	HP:0100699	Scarring	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0003549	HP:0009025	Increased connective tissue	1	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0003549	HP:0100790	Hernia	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0003549	HP:0100790	Hernia	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0003549	HP:0034392	Joint contracture	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0003549	HP:0100790	Hernia	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0003549	HP:0034392	Joint contracture	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0003549	HP:0034392	Joint contracture	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0003549	HP:0100790	Hernia	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0003549	HP:0100790	Hernia	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0003549	HP:0034392	Joint contracture	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0003549	HP:0034392	Joint contracture	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0003549	HP:0100790	Hernia	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0003549	HP:0034392	Joint contracture	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0003549	HP:0100790	Hernia	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0003549	HP:0034392	Joint contracture	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0003549	HP:0100790	Hernia	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0003549	HP:0034392	Joint contracture	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0100790	Hernia	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis			281
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0003549	HP:0100790	Hernia	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0003549	HP:0034392	Joint contracture	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0100790	Hernia	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0034392	Joint contracture	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0100790	Hernia	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0034392	Joint contracture	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0003549	HP:0100790	Hernia	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0003549	HP:0034392	Joint contracture	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0003549	HP:0100790	Hernia	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0003549	HP:0100790	Hernia	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism			462
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0003549	HP:0100699	Scarring	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0003549	HP:0034392	Joint contracture	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0100790	Hernia	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0034392	Joint contracture	1	MET CL E G H	4233	7029	OMIM:620019				375
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0100790	Hernia	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0100790	Hernia	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0003549	HP:0034392	Joint contracture	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0003549	HP:0034392	Joint contracture	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040281 - Very frequent		203
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0003549	HP:0100790	Hernia	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0003549	HP:0100790	Hernia	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0003549	HP:0034392	Joint contracture	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0100790	Hernia	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0034392	Joint contracture	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0003549	HP:0034392	Joint contracture	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0100790	Hernia	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0034392	Joint contracture	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003549	HP:0100790	Hernia	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003549	HP:0034392	Joint contracture	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0003549	HP:0100699	Scarring	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0003549	HP:0034392	Joint contracture	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0003549	HP:0100699	Scarring	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0003549	HP:0100790	Hernia	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0003549	HP:0034392	Joint contracture	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0100790	Hernia	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	MMP20 CL E G H	9313	7167	OMIM:612529	Amelogenesis imperfecta, hypomaturation type, iia2			37
HP:0003549	HP:0034392	Joint contracture	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0100790	Hernia	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0003549	HP:0034392	Joint contracture	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0034392	Joint contracture	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0003549	HP:0100658	Cellulitis	1	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0003549	HP:0034392	Joint contracture	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003549	HP:0100790	Hernia	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003549	HP:0100699	Scarring	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0003549	HP:0034392	Joint contracture	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0003549	HP:0034392	Joint contracture	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0003549	HP:0034392	Joint contracture	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0003549	HP:0034392	Joint contracture	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0003549	HP:0100790	Hernia	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia			12
HP:0003549	HP:0100790	Hernia	1	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0003549	HP:0034392	Joint contracture	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0003549	HP:0034392	Joint contracture	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0003549	HP:0100790	Hernia	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0003549	HP:0034392	Joint contracture	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0003549	HP:0034392	Joint contracture	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003549	HP:0034392	Joint contracture	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0003549	HP:0034392	Joint contracture	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0034392	Joint contracture	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0034392	Joint contracture	1	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B			66
HP:0003549	HP:0034392	Joint contracture	1	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0003549	HP:0034392	Joint contracture	1	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4			66
HP:0003549	HP:0034392	Joint contracture	1	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy			1143
HP:0003549	HP:0100790	Hernia	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0003549	HP:0100790	Hernia	1	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			418
HP:0003549	HP:0100790	Hernia	1	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2			418
HP:0003549	HP:0034392	Joint contracture	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia			105
HP:0003549	HP:0034392	Joint contracture	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0100790	Hernia	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0034392	Joint contracture	1	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3			166
HP:0003549	HP:0034392	Joint contracture	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0100790	Hernia	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0034392	Joint contracture	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0003549	HP:0034392	Joint contracture	1	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B			166
HP:0003549	HP:0034392	Joint contracture	1	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0003549	HP:0034392	Joint contracture	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0003549	HP:0100790	Hernia	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional		166
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy			452
HP:0003549	HP:0034392	Joint contracture	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy			1269
HP:0003549	HP:0034392	Joint contracture	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0003549	HP:0034392	Joint contracture	1	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7			93
HP:0003549	HP:0034392	Joint contracture	1	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT			93
HP:0003549	HP:0034392	Joint contracture	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003549	HP:0034392	Joint contracture	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0034392	Joint contracture	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0003549	HP:0100790	Hernia	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0003549	HP:0100790	Hernia	1	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			326
HP:0003549	HP:0034392	Joint contracture	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0003549	HP:0034392	Joint contracture	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0003549	HP:0034392	Joint contracture	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0003549	HP:0034392	Joint contracture	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0003549	HP:0034392	Joint contracture	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0034392	Joint contracture	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0003549	HP:0034392	Joint contracture	1	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0003549	HP:0034392	Joint contracture	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0003549	HP:0034392	Joint contracture	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy			217
HP:0003549	HP:0100790	Hernia	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0003549	HP:0034392	Joint contracture	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0003549	HP:0034392	Joint contracture	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0003549	HP:0100790	Hernia	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0003549	HP:0100790	Hernia	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0003549	HP:0034392	Joint contracture	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0003549	HP:0034392	Joint contracture	1	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0003549	HP:0034392	Joint contracture	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0003549	HP:0100790	Hernia	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0003549	HP:0034392	Joint contracture	1	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0003549	HP:0034392	Joint contracture	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0003549	HP:0100790	Hernia	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional		48
HP:0003549	HP:0034392	Joint contracture	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0003549	HP:0034392	Joint contracture	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0003549	HP:0100790	Hernia	1	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY			1
HP:0003549	HP:0034392	Joint contracture	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0003549	HP:0100699	Scarring	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0003549	HP:0100658	Cellulitis	1	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.		13
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0003549	HP:0100790	Hernia	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0003549	HP:0100658	Cellulitis	1	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.		67
HP:0003549	HP:0100699	Scarring	1	NCSTN CL E G H	23385	17091	OMIM:142690	Acne inversa, familial			5
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0003549	HP:0034392	Joint contracture	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0003549	HP:0100790	Hernia	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0003549	HP:0034392	Joint contracture	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0003549	HP:0100790	Hernia	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0003549	HP:0100790	Hernia	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0003549	HP:0100790	Hernia	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0003549	HP:0034392	Joint contracture	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0003549	HP:0034392	Joint contracture	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0003549	HP:0034392	Joint contracture	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0003549	HP:0034392	Joint contracture	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0003549	HP:0034392	Joint contracture	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0003549	HP:0034392	Joint contracture	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0003549	HP:0009025	Increased connective tissue	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0003549	HP:0034392	Joint contracture	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0003549	HP:0100790	Hernia	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0003549	HP:0100790	Hernia	1	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		30
HP:0003549	HP:0034392	Joint contracture	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0003549	HP:0034392	Joint contracture	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0003549	HP:0034392	Joint contracture	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0003549	HP:0009025	Increased connective tissue	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	HP:0040283 - Occasional		118
HP:0003549	HP:0100699	Scarring	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0003549	HP:0034392	Joint contracture	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0003549	HP:0100790	Hernia	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0003549	HP:0100790	Hernia	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0003549	HP:0100790	Hernia	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0003549	HP:0100790	Hernia	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0003549	HP:0100790	Hernia	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0003549	HP:0100790	Hernia	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040282 - Frequent		43
HP:0003549	HP:0100790	Hernia	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy			167
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0003549	HP:0100790	Hernia	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0003549	HP:0100790	Hernia	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0003549	HP:0034392	Joint contracture	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003549	HP:0100699	Scarring	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003549	HP:0100790	Hernia	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0003549	HP:0034392	Joint contracture	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0003549	HP:0100790	Hernia	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0003549	HP:0034392	Joint contracture	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0003549	HP:0100790	Hernia	1	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0003549	HP:0034392	Joint contracture	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0003549	HP:0100699	Scarring	1	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP			37
HP:0003549	HP:0034392	Joint contracture	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0100790	Hernia	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0100699	Scarring	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0003549	HP:0034392	Joint contracture	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0003549	HP:0034392	Joint contracture	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0034392	Joint contracture	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0003549	HP:0034392	Joint contracture	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0003549	HP:0034392	Joint contracture	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0003549	HP:0034392	Joint contracture	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0003549	HP:0034392	Joint contracture	1	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0003549	HP:0100790	Hernia	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0003549	HP:0100790	Hernia	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003549	HP:0100790	Hernia	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis			144
HP:0003549	HP:0100790	Hernia	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0003549	HP:0100790	Hernia	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0003549	HP:0100790	Hernia	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0003549	HP:0034392	Joint contracture	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0003549	HP:0100699	Scarring	1	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2			13
HP:0003549	HP:0100699	Scarring	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0003549	HP:0100790	Hernia	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0003549	HP:0034392	Joint contracture	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0003549	HP:0034392	Joint contracture	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0003549	HP:0100699	Scarring	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0003549	HP:0034392	Joint contracture	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0100790	Hernia	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0034392	Joint contracture	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0100790	Hernia	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0100790	Hernia	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0003549	HP:0034392	Joint contracture	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0003549	HP:0100790	Hernia	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0003549	HP:0034392	Joint contracture	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003549	HP:0034392	Joint contracture	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0003549	HP:0034392	Joint contracture	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0003549	HP:0034392	Joint contracture	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0003549	HP:0034392	Joint contracture	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive			15
HP:0003549	HP:0100536	Abnormality of the fascia	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0003549	HP:0100699	Scarring	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0003549	HP:0100699	Scarring	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0003549	HP:0034392	Joint contracture	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0100790	Hernia	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0034392	Joint contracture	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:0100790	Hernia	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8			1
HP:0003549	HP:0034392	Joint contracture	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0003549	HP:0034392	Joint contracture	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0034392	Joint contracture	1	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0003549	HP:0034392	Joint contracture	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0100790	Hernia	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0034392	Joint contracture	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0003549	HP:0100790	Hernia	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0003549	HP:0100790	Hernia	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0003549	HP:0100790	Hernia	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0003549	HP:0034392	Joint contracture	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0003549	HP:0100699	Scarring	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0003549	HP:0100790	Hernia	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4			6
HP:0003549	HP:0100790	Hernia	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0003549	HP:0100699	Scarring	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0003549	HP:0100790	Hernia	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0003549	HP:0034392	Joint contracture	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0003549	HP:0034392	Joint contracture	1	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2			19
HP:0003549	HP:0034392	Joint contracture	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0003549	HP:0034392	Joint contracture	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0003549	HP:0034392	Joint contracture	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0003549	HP:0034392	Joint contracture	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0003549	HP:0034392	Joint contracture	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0003549	HP:0034392	Joint contracture	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100790	Hernia	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0034392	Joint contracture	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0003549	HP:0100790	Hernia	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0003549	HP:0034392	Joint contracture	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003549	HP:0034392	Joint contracture	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0003549	HP:0034392	Joint contracture	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0003549	HP:0100790	Hernia	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome			2
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1			2
HP:0003549	HP:0034392	Joint contracture	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0003549	HP:0100790	Hernia	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0003549	HP:0100790	Hernia	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0003549	HP:0100790	Hernia	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome			231
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0003549	HP:0100790	Hernia	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0003549	HP:0034392	Joint contracture	1	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0003549	HP:0034392	Joint contracture	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0003549	HP:0034392	Joint contracture	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0003549	HP:0034392	Joint contracture	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0003549	HP:0100790	Hernia	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0003549	HP:0100790	Hernia	1	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia			58
HP:0003549	HP:0100790	Hernia	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:0003549	HP:0100699	Scarring	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0003549	HP:0034392	Joint contracture	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0003549	HP:0100790	Hernia	1	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0003549	HP:0009025	Increased connective tissue	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0003549	HP:0100699	Scarring	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0003549	HP:0100699	Scarring	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0003549	HP:0100699	Scarring	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis			28
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0003549	HP:0034392	Joint contracture	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0003549	HP:0034392	Joint contracture	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0034392	Joint contracture	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0003549	HP:0034392	Joint contracture	1	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0003549	HP:0034392	Joint contracture	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1			169
HP:0003549	HP:0034392	Joint contracture	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0003549	HP:0034392	Joint contracture	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0003549	HP:0034392	Joint contracture	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0003549	HP:0034392	Joint contracture	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0003549	HP:0034392	Joint contracture	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0003549	HP:0034392	Joint contracture	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0003549	HP:0100658	Cellulitis	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040284 - Very rare		217
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0003549	HP:0034392	Joint contracture	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0003549	HP:0100790	Hernia	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0003549	HP:0034392	Joint contracture	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0003549	HP:0034392	Joint contracture	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0003549	HP:0100790	Hernia	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0003549	HP:0034392	Joint contracture	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0003549	HP:0034392	Joint contracture	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0003549	HP:0034392	Joint contracture	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0003549	HP:0100658	Cellulitis	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0003549	HP:0034392	Joint contracture	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0034392	Joint contracture	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0034392	Joint contracture	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0003549	HP:0034392	Joint contracture	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0100790	Hernia	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0034392	Joint contracture	1	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0003549	HP:0034392	Joint contracture	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0034392	Joint contracture	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0003549	HP:0100790	Hernia	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0003549	HP:0034392	Joint contracture	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0003549	HP:0034392	Joint contracture	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0003549	HP:0100790	Hernia	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		7
HP:0003549	HP:0034392	Joint contracture	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0100790	Hernia	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0003549	HP:0034392	Joint contracture	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0003549	HP:0100790	Hernia	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0003549	HP:0100790	Hernia	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0003549	HP:0034392	Joint contracture	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0003549	HP:0100790	Hernia	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0003549	HP:0100790	Hernia	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0003549	HP:0034392	Joint contracture	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003549	HP:0100790	Hernia	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003549	HP:0034392	Joint contracture	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:0100790	Hernia	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0003549	HP:0034392	Joint contracture	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0003549	HP:0034392	Joint contracture	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0003549	HP:0100790	Hernia	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.		162
HP:0003549	HP:0100790	Hernia	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0003549	HP:0100658	Cellulitis	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14			9
HP:0003549	HP:0100790	Hernia	1	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome			9
HP:0003549	HP:0100658	Cellulitis	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		43
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0003549	HP:0100790	Hernia	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0003549	HP:0100790	Hernia	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0003549	HP:0034392	Joint contracture	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0003549	HP:0034392	Joint contracture	1	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3			1
HP:0003549	HP:0034392	Joint contracture	1	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly			8
HP:0003549	HP:0100699	Scarring	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional		107
HP:0003549	HP:0034392	Joint contracture	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0003549	HP:0034392	Joint contracture	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0003549	HP:0034392	Joint contracture	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0003549	HP:0100790	Hernia	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0003549	HP:0100790	Hernia	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0003549	HP:0100790	Hernia	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0003549	HP:0100658	Cellulitis	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.		21
HP:0003549	HP:0034392	Joint contracture	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0003549	HP:0100790	Hernia	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0003549	HP:0100699	Scarring	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0003549	HP:0009025	Increased connective tissue	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.		759
HP:0003549	HP:0034392	Joint contracture	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0003549	HP:0034392	Joint contracture	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0003549	HP:0100699	Scarring	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0003549	HP:0034392	Joint contracture	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0003549	HP:0100699	Scarring	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0003549	HP:0034392	Joint contracture	1	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q			759
HP:0003549	HP:0034392	Joint contracture	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0003549	HP:0034392	Joint contracture	1	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy			57
HP:0003549	HP:0100790	Hernia	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0003549	HP:0034392	Joint contracture	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003549	HP:0100699	Scarring	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003549	HP:0100790	Hernia	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003549	HP:0034392	Joint contracture	1	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0003549	HP:0034392	Joint contracture	1	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0003549	HP:0100790	Hernia	1	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0003549	HP:0034392	Joint contracture	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0034392	Joint contracture	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0003549	HP:0034392	Joint contracture	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0003549	HP:0034392	Joint contracture	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0003549	HP:0034392	Joint contracture	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0003549	HP:0034392	Joint contracture	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0003549	HP:0034392	Joint contracture	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0003549	HP:0034392	Joint contracture	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0003549	HP:0100790	Hernia	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0003549	HP:0034392	Joint contracture	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0003549	HP:0100790	Hernia	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0003549	HP:0100790	Hernia	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0003549	HP:0100699	Scarring	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0003549	HP:0034392	Joint contracture	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0003549	HP:0100790	Hernia	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0003549	HP:0034392	Joint contracture	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0034392	Joint contracture	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0009025	Increased connective tissue	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0034392	Joint contracture	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0100790	Hernia	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0009025	Increased connective tissue	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0003549	HP:0100699	Scarring	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0003549	HP:0034392	Joint contracture	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0003549	HP:0034392	Joint contracture	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0003549	HP:0034392	Joint contracture	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0003549	HP:0034392	Joint contracture	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0003549	HP:0034392	Joint contracture	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0003549	HP:0034392	Joint contracture	1	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1			213
HP:0003549	HP:0034392	Joint contracture	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0003549	HP:0034392	Joint contracture	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0003549	HP:0034392	Joint contracture	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0003549	HP:0034392	Joint contracture	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0003549	HP:0034392	Joint contracture	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0003549	HP:0034392	Joint contracture	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0003549	HP:0034392	Joint contracture	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0003549	HP:0034392	Joint contracture	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0003549	HP:0034392	Joint contracture	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0003549	HP:0100790	Hernia	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0003549	HP:0100790	Hernia	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional		20
HP:0003549	HP:0100790	Hernia	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0003549	HP:0100790	Hernia	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0003549	HP:0100699	Scarring	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional		41
HP:0003549	HP:0100790	Hernia	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0003549	HP:0034392	Joint contracture	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0003549	HP:0100790	Hernia	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0003549	HP:0100790	Hernia	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0003549	HP:0100790	Hernia	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0003549	HP:0034392	Joint contracture	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0034392	Joint contracture	1	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development			2
HP:0003549	HP:0034392	Joint contracture	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0003549	HP:0034392	Joint contracture	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0003549	HP:0100699	Scarring	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0003549	HP:0100699	Scarring	1	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII			6
HP:0003549	HP:0034392	Joint contracture	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy			148
HP:0003549	HP:0034392	Joint contracture	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0003549	HP:0100699	Scarring	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0003549	HP:0100790	Hernia	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional		58
HP:0003549	HP:0100790	Hernia	1	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2			58
HP:0003549	HP:0034392	Joint contracture	1	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0034392	Joint contracture	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0003549	HP:0034392	Joint contracture	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0100790	Hernia	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0003549	HP:0100790	Hernia	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003549	HP:0034392	Joint contracture	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0003549	HP:0034392	Joint contracture	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003549	HP:0100699	Scarring	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0003549	HP:0100790	Hernia	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0003549	HP:0100699	Scarring	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0003549	HP:0100699	Scarring	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0003549	HP:0100699	Scarring	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0003549	HP:0100699	Scarring	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0003549	HP:0100699	Scarring	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0003549	HP:0100699	Scarring	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0003549	HP:0100790	Hernia	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0003549	HP:0034392	Joint contracture	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0003549	HP:0034392	Joint contracture	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy			241
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy			59
HP:0003549	HP:0034392	Joint contracture	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0003549	HP:0034392	Joint contracture	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0034392	Joint contracture	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0003549	HP:0034392	Joint contracture	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0003549	HP:0034392	Joint contracture	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0003549	HP:0100658	Cellulitis	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0003549	HP:0034392	Joint contracture	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0003549	HP:0100790	Hernia	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0003549	HP:0034392	Joint contracture	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0003549	HP:0034392	Joint contracture	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0003549	HP:0100790	Hernia	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0003549	HP:0034392	Joint contracture	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0003549	HP:0034392	Joint contracture	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:0100790	Hernia	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:0100790	Hernia	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0003549	HP:0100898	Connective tissue nevi	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0003549	HP:0034392	Joint contracture	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0003549	HP:0034392	Joint contracture	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0003549	HP:0034392	Joint contracture	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003549	HP:0034392	Joint contracture	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0003549	HP:0034392	Joint contracture	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0003549	HP:0034392	Joint contracture	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0003549	HP:0100790	Hernia	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0003549	HP:0100790	Hernia	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0003549	HP:0034392	Joint contracture	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003549	HP:0100790	Hernia	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003549	HP:0100790	Hernia	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional		53
HP:0003549	HP:0034392	Joint contracture	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0003549	HP:0034392	Joint contracture	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0034392	Joint contracture	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0003549	HP:0100790	Hernia	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0003549	HP:0034392	Joint contracture	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0003549	HP:0100790	Hernia	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0003549	HP:0034392	Joint contracture	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0100790	Hernia	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0003549	HP:0034392	Joint contracture	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0003549	HP:0100790	Hernia	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0003549	HP:0100790	Hernia	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0003549	HP:0100658	Cellulitis	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0003549	HP:0100790	Hernia	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0003549	HP:0100790	Hernia	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0003549	HP:0100790	Hernia	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy			212
HP:0003549	HP:0034392	Joint contracture	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0034392	Joint contracture	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0003549	HP:0034392	Joint contracture	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0003549	HP:0100790	Hernia	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0003549	HP:0100790	Hernia	1	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12			9
HP:0003549	HP:0034392	Joint contracture	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy			363
HP:0003549	HP:0034392	Joint contracture	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0003549	HP:0034392	Joint contracture	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0003549	HP:0100699	Scarring	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0003549	HP:0100699	Scarring	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0003549	HP:0034392	Joint contracture	1	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0003549	HP:0100699	Scarring	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0003549	HP:0034392	Joint contracture	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0003549	HP:0034392	Joint contracture	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0003549	HP:0034392	Joint contracture	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0003549	HP:0034392	Joint contracture	1	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0003549	HP:0100790	Hernia	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0003549	HP:0100699	Scarring	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0003549	HP:0100699	Scarring	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0003549	HP:0100699	Scarring	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0003549	HP:0034392	Joint contracture	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0003549	HP:0100790	Hernia	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0003549	HP:0100790	Hernia	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0003549	HP:0100790	Hernia	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0003549	HP:0034392	Joint contracture	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0003549	HP:0100790	Hernia	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0003549	HP:0034392	Joint contracture	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0100790	Hernia	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0100699	Scarring	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0003549	HP:0100790	Hernia	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0003549	HP:0034392	Joint contracture	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003549	HP:0034392	Joint contracture	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0003549	HP:0034392	Joint contracture	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0003549	HP:0034392	Joint contracture	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0003549	HP:0034392	Joint contracture	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0100790	Hernia	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0034392	Joint contracture	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0003549	HP:0100790	Hernia	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0003549	HP:0034392	Joint contracture	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0003549	HP:0100790	Hernia	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0003549	HP:0100790	Hernia	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0003549	HP:0034392	Joint contracture	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0003549	HP:0034392	Joint contracture	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0003549	HP:0034392	Joint contracture	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0003549	HP:0034392	Joint contracture	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0003549	HP:0034392	Joint contracture	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome			57
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome			57
HP:0003549	HP:0100699	Scarring	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0003549	HP:0034392	Joint contracture	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0100790	Hernia	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0034392	Joint contracture	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0003549	HP:0100790	Hernia	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0003549	HP:0100699	Scarring	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0003549	HP:0100699	Scarring	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0003549	HP:0100699	Scarring	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0003549	HP:0100699	Scarring	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0003549	HP:0100699	Scarring	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0003549	HP:0100699	Scarring	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0003549	HP:0100790	Hernia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0003549	HP:0034392	Joint contracture	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0100790	Hernia	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0034392	Joint contracture	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003549	HP:0100790	Hernia	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003549	HP:0034392	Joint contracture	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0003549	HP:0034392	Joint contracture	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0003549	HP:0100790	Hernia	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0003549	HP:0100790	Hernia	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0003549	HP:0100790	Hernia	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0003549	HP:0100790	Hernia	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0003549	HP:0034392	Joint contracture	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0003549	HP:0100790	Hernia	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0003549	HP:0100790	Hernia	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0003549	HP:0034392	Joint contracture	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0003549	HP:0100790	Hernia	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0003549	HP:0034392	Joint contracture	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003549	HP:0100790	Hernia	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003549	HP:0034392	Joint contracture	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0034392	Joint contracture	1	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0003549	HP:0034392	Joint contracture	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0003549	HP:0034392	Joint contracture	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0003549	HP:0034392	Joint contracture	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0003549	HP:0034392	Joint contracture	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0003549	HP:0009025	Increased connective tissue	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent		1200
HP:0003549	HP:0034392	Joint contracture	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0003549	HP:0009025	Increased connective tissue	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0003549	HP:0034392	Joint contracture	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0003549	HP:0100699	Scarring	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0003549	HP:0100790	Hernia	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0003549	HP:0034392	Joint contracture	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0003549	HP:0034392	Joint contracture	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0003549	HP:0034392	Joint contracture	1	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5			55
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0003549	HP:0034392	Joint contracture	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0003549	HP:0100790	Hernia	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0003549	HP:0100699	Scarring	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0003549	HP:0034392	Joint contracture	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0100790	Hernia	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0003549	HP:0100790	Hernia	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0003549	HP:0034392	Joint contracture	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0003549	HP:0034392	Joint contracture	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy			1134
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0003549	HP:0034392	Joint contracture	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0003549	HP:0034392	Joint contracture	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy			304
HP:0003549	HP:0034392	Joint contracture	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0003549	HP:0034392	Joint contracture	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0003549	HP:0034392	Joint contracture	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0003549	HP:0034392	Joint contracture	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0003549	HP:0034392	Joint contracture	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0003549	HP:0034392	Joint contracture	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0003549	HP:0100790	Hernia	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome			5
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0003549	HP:0034392	Joint contracture	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0003549	HP:0100790	Hernia	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0003549	HP:0034392	Joint contracture	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0003549	HP:0034392	Joint contracture	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0003549	HP:0034392	Joint contracture	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0003549	HP:0034392	Joint contracture	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0003549	HP:0034392	Joint contracture	1	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0003549	HP:0034392	Joint contracture	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0003549	HP:0100699	Scarring	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0003549	HP:0100790	Hernia	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0003549	HP:0034392	Joint contracture	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0003549	HP:0100790	Hernia	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0003549	HP:0100790	Hernia	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0003549	HP:0034392	Joint contracture	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0003549	HP:0100790	Hernia	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0003549	HP:0034392	Joint contracture	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0100790	Hernia	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0100790	Hernia	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0003549	HP:0034392	Joint contracture	1	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3			132
HP:0003549	HP:0034392	Joint contracture	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy			223
HP:0003549	HP:0034392	Joint contracture	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0003549	HP:0034392	Joint contracture	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C			83
HP:0003549	HP:0100790	Hernia	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0003549	HP:0100790	Hernia	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0003549	HP:0100699	Scarring	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0003549	HP:0034392	Joint contracture	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0003549	HP:0034392	Joint contracture	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0100790	Hernia	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0100790	Hernia	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0003549	HP:0100658	Cellulitis	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0003549	HP:0034392	Joint contracture	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0003549	HP:0034392	Joint contracture	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0003549	HP:0034392	Joint contracture	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0003549	HP:0034392	Joint contracture	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0003549	HP:0034392	Joint contracture	1	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0003549	HP:0100790	Hernia	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0003549	HP:0034392	Joint contracture	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0003549	HP:0100790	Hernia	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0003549	HP:0034392	Joint contracture	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0003549	HP:0100790	Hernia	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0003549	HP:0034392	Joint contracture	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003549	HP:0034392	Joint contracture	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0003549	HP:0100790	Hernia	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0003549	HP:0034392	Joint contracture	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0100790	Hernia	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0034392	Joint contracture	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0003549	HP:0034392	Joint contracture	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0003549	HP:0034392	Joint contracture	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0003549	HP:0034392	Joint contracture	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0003549	HP:0034392	Joint contracture	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0003549	HP:0034392	Joint contracture	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0100790	Hernia	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0034392	Joint contracture	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0100790	Hernia	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0100790	Hernia	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0003549	HP:0100790	Hernia	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0003549	HP:0034392	Joint contracture	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003549	HP:0100790	Hernia	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0003549	HP:0034392	Joint contracture	1	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0003549	HP:0034392	Joint contracture	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome			73
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta			73
HP:0003549	HP:0034392	Joint contracture	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0003549	HP:0034392	Joint contracture	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0003549	HP:0034392	Joint contracture	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0034392	Joint contracture	1	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic			2
HP:0003549	HP:0034392	Joint contracture	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0003549	HP:0034392	Joint contracture	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0003549	HP:0034392	Joint contracture	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0003549	HP:0034392	Joint contracture	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SLC24A4 CL E G H	123041	10978	OMIM:615887	Amelogenesis imperfecta, hypomaturation type, iia5			4
HP:0003549	HP:0034392	Joint contracture	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0003549	HP:0034392	Joint contracture	1	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type			36
HP:0003549	HP:0034392	Joint contracture	1	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)			36
HP:0003549	HP:0100790	Hernia	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0003549	HP:0100790	Hernia	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003549	HP:0100790	Hernia	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0003549	HP:0100790	Hernia	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0003549	HP:0100898	Connective tissue nevi	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0003549	HP:0034392	Joint contracture	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0003549	HP:0034392	Joint contracture	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0003549	HP:0034392	Joint contracture	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0003549	HP:0034392	Joint contracture	1	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0003549	HP:0100790	Hernia	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0003549	HP:0100790	Hernia	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0003549	HP:0034392	Joint contracture	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0003549	HP:0034392	Joint contracture	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0003549	HP:0034392	Joint contracture	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003549	HP:0034392	Joint contracture	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0003549	HP:0034392	Joint contracture	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0003549	HP:0100790	Hernia	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0003549	HP:0034392	Joint contracture	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0034392	Joint contracture	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome			178
HP:0003549	HP:0100790	Hernia	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome			178
HP:0003549	HP:0100790	Hernia	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0003549	HP:0100658	Cellulitis	1	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent		24
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0003549	HP:0034392	Joint contracture	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003549	HP:0034392	Joint contracture	1	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0003549	HP:0100658	Cellulitis	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.		71
HP:0003549	HP:0100699	Scarring	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0003549	HP:0100790	Hernia	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0003549	HP:0100790	Hernia	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0003549	HP:0100790	Hernia	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0003549	HP:0034392	Joint contracture	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0100699	Scarring	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0034392	Joint contracture	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0003549	HP:0034392	Joint contracture	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0003549	HP:0034392	Joint contracture	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0003549	HP:0034392	Joint contracture	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0003549	HP:0100790	Hernia	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0003549	HP:0100790	Hernia	1	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1			59
HP:0003549	HP:0100790	Hernia	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0003549	HP:0034392	Joint contracture	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0003549	HP:0034392	Joint contracture	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0003549	HP:0100790	Hernia	1	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent		81
HP:0003549	HP:0100790	Hernia	1	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0003549	HP:0034392	Joint contracture	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0003549	HP:0100699	Scarring	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0003549	HP:0034392	Joint contracture	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0003549	HP:0034392	Joint contracture	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0003549	HP:0034392	Joint contracture	1	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda			15
HP:0003549	HP:0100790	Hernia	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0003549	HP:0100790	Hernia	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0003549	HP:0034392	Joint contracture	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0100699	Scarring	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0100790	Hernia	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0100790	Hernia	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0003549	HP:0034392	Joint contracture	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0100699	Scarring	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0100790	Hernia	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0100790	Hernia	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0003549	HP:0034392	Joint contracture	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0003549	HP:0100790	Hernia	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0003549	HP:0034392	Joint contracture	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0003549	HP:0100790	Hernia	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0003549	HP:0100790	Hernia	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040283 - Occasional		146
HP:0003549	HP:0100790	Hernia	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0003549	HP:0034392	Joint contracture	1	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0003549	HP:0034392	Joint contracture	1	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome			6
HP:0003549	HP:0100790	Hernia	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0003549	HP:0100790	Hernia	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0003549	HP:0100790	Hernia	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0100790	Hernia	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0003549	HP:0100790	Hernia	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0003549	HP:0100790	Hernia	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0003549	HP:0034392	Joint contracture	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0100790	Hernia	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0034392	Joint contracture	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0003549	HP:0100790	Hernia	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0003549	HP:0100790	Hernia	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0003549	HP:0100790	Hernia	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			174
HP:0003549	HP:0034392	Joint contracture	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0034392	Joint contracture	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0034392	Joint contracture	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth			4
HP:0003549	HP:0034392	Joint contracture	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0003549	HP:0034392	Joint contracture	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0003549	HP:0034392	Joint contracture	1	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0003549	HP:0034392	Joint contracture	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0003549	HP:0100790	Hernia	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0003549	HP:0100699	Scarring	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0003549	HP:0034392	Joint contracture	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0003549	HP:0034392	Joint contracture	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0003549	HP:0034392	Joint contracture	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0003549	HP:0034392	Joint contracture	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0003549	HP:0034392	Joint contracture	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0003549	HP:0034392	Joint contracture	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0003549	HP:0100790	Hernia	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0003549	HP:0100790	Hernia	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0003549	HP:0100790	Hernia	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0003549	HP:0034392	Joint contracture	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SP6 CL E G H	80320	14530	OMIM:620104
HP:0003549	HP:0034392	Joint contracture	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0003549	HP:0100699	Scarring	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0003549	HP:0100790	Hernia	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0003549	HP:0100790	Hernia	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0003549	HP:0034392	Joint contracture	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0003549	HP:0034392	Joint contracture	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0003549	HP:0034392	Joint contracture	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0003549	HP:0034392	Joint contracture	1	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0003549	HP:0034392	Joint contracture	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0003549	HP:0034392	Joint contracture	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0003549	HP:0034392	Joint contracture	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0003549	HP:0034392	Joint contracture	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0003549	HP:0034392	Joint contracture	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0003549	HP:0100790	Hernia	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0003549	HP:0034392	Joint contracture	1	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0003549	HP:0100658	Cellulitis	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0003549	HP:0034392	Joint contracture	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0003549	HP:0034392	Joint contracture	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0003549	HP:0034392	Joint contracture	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0003549	HP:0034392	Joint contracture	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0003549	HP:0100790	Hernia	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0003549	HP:0034392	Joint contracture	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0003549	HP:0100658	Cellulitis	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040283 - Occasional		110
HP:0003549	HP:0034392	Joint contracture	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0003549	HP:0034392	Joint contracture	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0003549	HP:0034392	Joint contracture	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0003549	HP:0034392	Joint contracture	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0003549	HP:0034392	Joint contracture	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0003549	HP:0034392	Joint contracture	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0003549	HP:0034392	Joint contracture	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0003549	HP:0100790	Hernia	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0003549	HP:0100790	Hernia	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0003549	HP:0034392	Joint contracture	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia			8
HP:0003549	HP:0034392	Joint contracture	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0003549	HP:0100790	Hernia	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0003549	HP:0034392	Joint contracture	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0100790	Hernia	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0034392	Joint contracture	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0034392	Joint contracture	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0003549	HP:0034392	Joint contracture	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0003549	HP:0034392	Joint contracture	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0003549	HP:0034392	Joint contracture	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0003549	HP:0034392	Joint contracture	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0003549	HP:0034392	Joint contracture	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0003549	HP:0034392	Joint contracture	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0003549	HP:0034392	Joint contracture	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003549	HP:0034392	Joint contracture	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003549	HP:0009124	Abnormal adipose tissue 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:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0034392	Joint contracture	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0003549	HP:0034392	Joint contracture	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0100790	Hernia	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0100790	Hernia	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0003549	HP:0034392	Joint contracture	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0003549	HP:0034392	Joint contracture	1	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0034392	Joint contracture	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0003549	HP:0034392	Joint contracture	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0003549	HP:0034392	Joint contracture	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0003549	HP:0100790	Hernia	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0003549	HP:0100790	Hernia	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0003549	HP:0100790	Hernia	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0003549	HP:0034392	Joint contracture	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0003549	HP:0034392	Joint contracture	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0003549	HP:0034392	Joint contracture	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0003549	HP:0034392	Joint contracture	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0100790	Hernia	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0100790	Hernia	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0003549	HP:0034392	Joint contracture	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy			78
HP:0003549	HP:0009025	Increased connective tissue	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.		78
HP:0003549	HP:0100658	Cellulitis	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		2
HP:0003549	HP:0100790	Hernia	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0003549	HP:0100658	Cellulitis	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		82
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0003549	HP:0034392	Joint contracture	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0003549	HP:0034392	Joint contracture	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0003549	HP:0034392	Joint contracture	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0003549	HP:0034392	Joint contracture	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0003549	HP:0034392	Joint contracture	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0003549	HP:0034392	Joint contracture	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0003549	HP:0034392	Joint contracture	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0003549	HP:0100790	Hernia	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0003549	HP:0100699	Scarring	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0003549	HP:0034392	Joint contracture	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0003549	HP:0100699	Scarring	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0003549	HP:0100790	Hernia	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0003549	HP:0100790	Hernia	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0003549	HP:0034392	Joint contracture	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0003549	HP:0034392	Joint contracture	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0003549	HP:0100790	Hernia	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0003549	HP:0100790	Hernia	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0003549	HP:0100790	Hernia	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0003549	HP:0100790	Hernia	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0003549	HP:0034392	Joint contracture	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0100790	Hernia	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0100699	Scarring	1	TGFBI CL E G H	7045	11771	OMIM:602082	Corneal dystrophy of bowman layer, type II			58
HP:0003549	HP:0100699	Scarring	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0003549	HP:0100790	Hernia	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0003549	HP:0034392	Joint contracture	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0100699	Scarring	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0034392	Joint contracture	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0003549	HP:0100790	Hernia	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0003549	HP:0034392	Joint contracture	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0100699	Scarring	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0034392	Joint contracture	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003549	HP:0100790	Hernia	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003549	HP:0034392	Joint contracture	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0003549	HP:0034392	Joint contracture	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0003549	HP:0034392	Joint contracture	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0003549	HP:0034392	Joint contracture	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0003549	HP:0034392	Joint contracture	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0003549	HP:0034392	Joint contracture	1	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis			98
HP:0003549	HP:0034392	Joint contracture	1	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1			98
HP:0003549	HP:0034392	Joint contracture	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0003549	HP:0100790	Hernia	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0003549	HP:0034392	Joint contracture	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0100790	Hernia	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0003549	HP:0100790	Hernia	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0003549	HP:0034392	Joint contracture	1	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13			4
HP:0003549	HP:0100790	Hernia	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0003549	HP:0100790	Hernia	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0003549	HP:0034392	Joint contracture	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0003549	HP:0034392	Joint contracture	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0003549	HP:0034392	Joint contracture	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0003549	HP:0100790	Hernia	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0003549	HP:0100790	Hernia	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0003549	HP:0034392	Joint contracture	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0003549	HP:0100790	Hernia	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy			136
HP:0003549	HP:0100790	Hernia	1	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040281 - Very frequent		5
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition			44
HP:0003549	HP:0100699	Scarring	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis			131
HP:0003549	HP:0100536	Abnormality of the fascia	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0003549	HP:0100658	Cellulitis	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy			73
HP:0003549	HP:0034392	Joint contracture	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0034392	Joint contracture	1	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy			180
HP:0003549	HP:0034392	Joint contracture	1	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0003549	HP:0034392	Joint contracture	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0003549	HP:0034392	Joint contracture	1	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2			43
HP:0003549	HP:0034392	Joint contracture	1	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0003549	HP:0034392	Joint contracture	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0003549	HP:0009025	Increased connective tissue	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.		71
HP:0003549	HP:0100790	Hernia	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0003549	HP:0100790	Hernia	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like			134
HP:0003549	HP:0009025	Increased connective tissue	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	HP:0040283 - Occasional		134
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0003549	HP:0100699	Scarring	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0003549	HP:0034392	Joint contracture	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0100790	Hernia	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0034392	Joint contracture	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0003549	HP:0034392	Joint contracture	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0003549	HP:0034392	Joint contracture	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100790	Hernia	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100790	Hernia	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy			140
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0003549	HP:0100790	Hernia	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0003549	HP:0034392	Joint contracture	1	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome			140
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy			230
HP:0003549	HP:0034392	Joint contracture	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0003549	HP:0034392	Joint contracture	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0003549	HP:0034392	Joint contracture	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0003549	HP:0034392	Joint contracture	1	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0003549	HP:0034392	Joint contracture	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0003549	HP:0034392	Joint contracture	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0003549	HP:0034392	Joint contracture	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0003549	HP:0034392	Joint contracture	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0003549	HP:0034392	Joint contracture	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0003549	HP:0034392	Joint contracture	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0003549	HP:0034392	Joint contracture	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0003549	HP:0034392	Joint contracture	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1			108
HP:0003549	HP:0100790	Hernia	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0003549	HP:0034392	Joint contracture	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100790	Hernia	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0003549	HP:0100790	Hernia	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0003549	HP:0100790	Hernia	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0003549	HP:0034392	Joint contracture	1	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0003549	HP:0034392	Joint contracture	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0003549	HP:0034392	Joint contracture	1	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0003549	HP:0100790	Hernia	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0003549	HP:0100790	Hernia	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia			133
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0003549	HP:0034392	Joint contracture	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0003549	HP:0034392	Joint contracture	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0003549	HP:0034392	Joint contracture	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0003549	HP:0034392	Joint contracture	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0003549	HP:0009025	Increased connective tissue	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0003549	HP:0034392	Joint contracture	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0003549	HP:0034392	Joint contracture	1	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques			151
HP:0003549	HP:0034392	Joint contracture	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0003549	HP:0034392	Joint contracture	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003549	HP:0034392	Joint contracture	1	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism			214
HP:0003549	HP:0034392	Joint contracture	1	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0003549	HP:0034392	Joint contracture	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003549	HP:0034392	Joint contracture	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003549	HP:0100790	Hernia	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0003549	HP:0100898	Connective tissue nevi	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0003549	HP:0100898	Connective tissue nevi	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0003549	HP:0100898	Connective tissue nevi	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0003549	HP:0100898	Connective tissue nevi	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0003549	HP:0100898	Connective tissue nevi	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0003549	HP:0100898	Connective tissue nevi	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0003549	HP:0034392	Joint contracture	1	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0003549	HP:0034392	Joint contracture	1	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0003549	HP:0100790	Hernia	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4			9
HP:0003549	HP:0100790	Hernia	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0003549	HP:0100790	Hernia	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0003549	HP:0100790	Hernia	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003549	HP:0100790	Hernia	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0003549	HP:0100790	Hernia	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0003549	HP:0100699	Scarring	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0003549	HP:0034392	Joint contracture	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0003549	HP:0034392	Joint contracture	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy			7128
HP:0003549	HP:0034392	Joint contracture	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0003549	HP:0034392	Joint contracture	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy			7128
HP:0003549	HP:0100699	Scarring	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0003549	HP:0034392	Joint contracture	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0100790	Hernia	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0003549	HP:0034392	Joint contracture	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0003549	HP:0100699	Scarring	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0003549	HP:0034392	Joint contracture	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0100790	Hernia	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0034392	Joint contracture	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0003549	HP:0100790	Hernia	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0003549	HP:0100790	Hernia	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy			85
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0003549	HP:0034392	Joint contracture	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003549	HP:0034392	Joint contracture	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0003549	HP:0100790	Hernia	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0003549	HP:0100790	Hernia	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0003549	HP:0034392	Joint contracture	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0034392	Joint contracture	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0003549	HP:0034392	Joint contracture	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0003549	HP:0100790	Hernia	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0003549	HP:0034392	Joint contracture	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0003549	HP:0034392	Joint contracture	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0003549	HP:0034392	Joint contracture	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0003549	HP:0100699	Scarring	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent		31
HP:0003549	HP:0100699	Scarring	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent		41
HP:0003549	HP:0009025	Increased connective tissue	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0003549	HP:0034392	Joint contracture	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0003549	HP:0100699	Scarring	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0003549	HP:0100699	Scarring	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0003549	HP:0034392	Joint contracture	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0003549	HP:0034392	Joint contracture	1	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0003549	HP:0034392	Joint contracture	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to			111
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele			111
HP:0003549	HP:0100790	Hernia	1	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to			2
HP:0003549	HP:0034392	Joint contracture	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040282 - Frequent		104
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0003549	HP:0100658	Cellulitis	1	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID	.		4
HP:0003549	HP:0034392	Joint contracture	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0003549	HP:0034392	Joint contracture	1	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy			10
HP:0003549	HP:0034392	Joint contracture	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0003549	HP:0034392	Joint contracture	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0003549	HP:0034392	Joint contracture	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0003549	HP:0100790	Hernia	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0003549	HP:0034392	Joint contracture	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0003549	HP:0034392	Joint contracture	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0003549	HP:0100790	Hernia	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0003549	HP:0034392	Joint contracture	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0003549	HP:0034392	Joint contracture	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0003549	HP:0034392	Joint contracture	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0003549	HP:0034392	Joint contracture	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003549	HP:0100790	Hernia	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0003549	HP:0034392	Joint contracture	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0003549	HP:0100790	Hernia	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0003549	HP:0034392	Joint contracture	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0003549	HP:0100790	Hernia	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0003549	HP:0100790	Hernia	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0003549	HP:0034392	Joint contracture	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100790	Hernia	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0034392	Joint contracture	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0003549	HP:0034392	Joint contracture	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3			137
HP:0003549	HP:0034392	Joint contracture	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0100790	Hernia	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0034392	Joint contracture	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0003549	HP:0100790	Hernia	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0003549	HP:0034392	Joint contracture	1	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0003549	HP:0100790	Hernia	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia			71
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia			4
HP:0003549	HP:0100790	Hernia	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0003549	HP:0100790	Hernia	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0003549	HP:0100790	Hernia	1	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome			4
HP:0003549	HP:0034392	Joint contracture	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0100790	Hernia	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0100790	Hernia	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0003549	HP:0034392	Joint contracture	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0003549	HP:0100685	Abnormal Sharpey fiber morphology	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0003549	HP:0100790	Hernia	1	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome			177
HP:0003549	HP:0100790	Hernia	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0003549	HP:0100790	Hernia	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0003549	HP:0100790	Hernia	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0003549	HP:0100790	Hernia	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0003549	HP:0034392	Joint contracture	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0003549	HP:0100790	Hernia	1	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0003549	HP:0100790	Hernia	1	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome			14
HP:0003549	HP:0034392	Joint contracture	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0003549	HP:0034392	Joint contracture	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0003549	HP:0034392	Joint contracture	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0003549	HP:0034392	Joint contracture	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0003549	HP:0100790	Hernia	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0003549	HP:0034392	Joint contracture	1	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6			1
HP:0003549	HP:0100790	Hernia	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0003549	HP:0034392	Joint contracture	1	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0003549	HP:0034392	Joint contracture	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0003549	HP:0034392	Joint contracture	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0003549	HP:0034392	Joint contracture	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0003549	HP:0034392	Joint contracture	1	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0003549	HP:0100790	Hernia	1	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3			8
HP:0003549	HP:0034392	Joint contracture	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0003549	HP:0034392	Joint contracture	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0003549	HP:0100790	Hernia	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0003549	HP:0100790	Hernia	1	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia			31
HP:0003549	HP:0100790	Hernia	1	ZFPM2 CL E G H	23414	16700	OMIM:610187	DIAPHRAGMATIC HERNIA 3; DIH3			31
HP:0003549	HP:0034392	Joint contracture	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0003549	HP:0034392	Joint contracture	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0003549	HP:0034392	Joint contracture	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0003549	HP:0034392	Joint contracture	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0003549	HP:0100790	Hernia	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0003549	HP:0034392	Joint contracture	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003549	HP:0034392	Joint contracture	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0034392	Joint contracture	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0003549	HP:0034392	Joint contracture	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0003549	HP:0034392	Joint contracture	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0100699	Scarring	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0003549	HP:0034392	Joint contracture	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0003549	HP:3000050	Abnormal odontoid tissue morphology	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0003549	HP:0100699	Scarring	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0003549	HP:0100699	Scarring	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0003549	HP:0100790	Hernia	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional		397
HP:0003549	HP:0100699	Scarring	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0003549	HP:0100790	Hernia	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0003549	HP:0034392	Joint contracture	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0003549	HP:0034392	Joint contracture	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0003549	HP:0009124	Abnormal adipose tissue morphology	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0003549	HP:0007777	Chorioretinal scar	2	CL E G H
HP:0003549	HP:0025384	Diet-resistant subcutaneous adipose tissue	2	CL E G H
HP:0003549	HP:0030759	Adipocyte hypertrophy	2	CL E G H
HP:0003549	HP:0031451	Lower extremity subcutanous fat hypertrophy	2	CL E G H
HP:0003549	HP:0100717	Abnormal cementum morphology	2	CL E G H
HP:0003549	HP:0000987	Atypical scarring of skin	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0003549	HP:0001371	Flexion contracture	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0003549	HP:0009125	Lipodystrophy	2	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy			254
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0003549	HP:0001371	Flexion contracture	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0003549	HP:0001371	Flexion contracture	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0003549	HP:0001371	Flexion contracture	2	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.		51
HP:0003549	HP:0001371	Flexion contracture	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0003549	HP:0001371	Flexion contracture	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0003549	HP:0001371	Flexion contracture	2	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.		90
HP:0003549	HP:0001371	Flexion contracture	2	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J			7
HP:0003549	HP:0001371	Flexion contracture	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0003549	HP:0001371	Flexion contracture	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0003549	HP:0001371	Flexion contracture	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		96
HP:0003549	HP:0001371	Flexion contracture	2	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0003549	HP:0001371	Flexion contracture	2	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0003549	HP:0001371	Flexion contracture	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0003549	HP:0001371	Flexion contracture	2	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0003549	HP:0001371	Flexion contracture	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0003549	HP:0001371	Flexion contracture	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0003549	HP:0009125	Lipodystrophy	2	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome			72
HP:0003549	HP:0009125	Lipodystrophy	2	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy			208
HP:0003549	HP:0001371	Flexion contracture	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			23
HP:0003549	HP:0009125	Lipodystrophy	2	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy			307
HP:0003549	HP:0000987	Atypical scarring of skin	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0003549	HP:0012490	Panniculitis	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0003549	HP:0002036	Hiatus hernia	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0003549	HP:0001371	Flexion contracture	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0003549	HP:0002036	Hiatus hernia	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0003549	HP:0001371	Flexion contracture	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003549	HP:0001371	Flexion contracture	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0003549	HP:0009125	Lipodystrophy	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0003549	HP:0012490	Panniculitis	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare		9
HP:0003549	HP:0001371	Flexion contracture	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0001371	Flexion contracture	2	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8	.		2
HP:0003549	HP:0001371	Flexion contracture	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		88
HP:0003549	HP:0001371	Flexion contracture	2	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		530
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0003549	HP:0000987	Atypical scarring of skin	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003549	HP:0000987	Atypical scarring of skin	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0003549	HP:0000987	Atypical scarring of skin	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0003549	HP:0040063	Decreased adipose tissue	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0003549	HP:0009125	Lipodystrophy	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		85
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0003549	HP:0040063	Decreased adipose tissue	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0003549	HP:0009125	Lipodystrophy	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0003549	HP:0001371	Flexion contracture	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0003549	HP:0001371	Flexion contracture	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0003549	HP:0000987	Atypical scarring of skin	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0003549	HP:0000987	Atypical scarring of skin	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0003549	HP:0001371	Flexion contracture	2	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0001371	Flexion contracture	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0003549	HP:0001371	Flexion contracture	2	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0003549	HP:0001371	Flexion contracture	2	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0003549	HP:0009125	Lipodystrophy	2	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040280 - Obligate		12
HP:0003549	HP:0009126	Increased adipose tissue	2	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0003549	HP:0001371	Flexion contracture	2	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0003549	HP:0009125	Lipodystrophy	2	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0003549	HP:0009125	Lipodystrophy	2	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent		104
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0003549	HP:0001371	Flexion contracture	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0003549	HP:0002036	Hiatus hernia	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.		89
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040283 - Occasional		87
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0003549	HP:0001371	Flexion contracture	2	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0003549	HP:0001371	Flexion contracture	2	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0003549	HP:0001371	Flexion contracture	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0003549	HP:0001371	Flexion contracture	2	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	HP:0040283 - Occasional		96
HP:0003549	HP:0001371	Flexion contracture	2	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		12
HP:0003549	HP:0001371	Flexion contracture	2	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15			12
HP:0003549	HP:0001371	Flexion contracture	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0003549	HP:0001371	Flexion contracture	2	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		46
HP:0003549	HP:0001371	Flexion contracture	2	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	HP:0040283 - Occasional		46
HP:0003549	HP:0001371	Flexion contracture	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0003549	HP:0009125	Lipodystrophy	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare		37
HP:0003549	HP:0001371	Flexion contracture	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0003549	HP:0001371	Flexion contracture	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0003549	HP:0001371	Flexion contracture	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0003549	HP:0009125	Lipodystrophy	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0003549	HP:0001371	Flexion contracture	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0003549	HP:0000934	Chondrocalcinosis	2	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.		126
HP:0003549	HP:0001371	Flexion contracture	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0003549	HP:0001371	Flexion contracture	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0003549	HP:0001371	Flexion contracture	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0003549	HP:0001371	Flexion contracture	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0001371	Flexion contracture	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0001371	Flexion contracture	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F			2
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE			17
HP:0003549	HP:0001371	Flexion contracture	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome			8
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II			8
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B			1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional		2
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0003549	HP:0000934	Chondrocalcinosis	2	ANKH CL E G H	56172	15492	OMIM:118600	Chondrocalcinosis 2			164
HP:0003549	HP:0000934	Chondrocalcinosis	2	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040283 - Occasional		164
HP:0003549	HP:0001371	Flexion contracture	2	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0003549	HP:0009125	Lipodystrophy	2	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy			95
HP:0003549	HP:0001371	Flexion contracture	2	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0003549	HP:0100686	Enthesitis	2	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0003549	HP:0001371	Flexion contracture	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0003549	HP:0001371	Flexion contracture	2	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0003549	HP:0001371	Flexion contracture	2	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003549	HP:0001371	Flexion contracture	2	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0003549	HP:0001371	Flexion contracture	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome			13
HP:0003549	HP:0000934	Chondrocalcinosis	2	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.		6
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0003549	HP:0001371	Flexion contracture	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0003549	HP:0001371	Flexion contracture	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0003549	HP:0001371	Flexion contracture	2	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.		18
HP:0003549	HP:0000987	Atypical scarring of skin	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		3179
HP:0003549	HP:0000987	Atypical scarring of skin	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0003549	HP:0001371	Flexion contracture	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome			125
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional		125
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias			125
HP:0003549	HP:0000987	Atypical scarring of skin	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0003549	HP:0001371	Flexion contracture	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0003549	HP:0000987	Atypical scarring of skin	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0003549	HP:0000987	Atypical scarring of skin	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0003549	HP:0000987	Atypical scarring of skin	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0003549	HP:0001371	Flexion contracture	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0001371	Flexion contracture	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0003549	HP:0001371	Flexion contracture	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0003549	HP:0001371	Flexion contracture	2	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome	.		166
HP:0003549	HP:0001371	Flexion contracture	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040281 - Very frequent		78
HP:0003549	HP:0001371	Flexion contracture	2	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0003549	HP:0001371	Flexion contracture	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0003549	HP:0001371	Flexion contracture	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0003549	HP:0001371	Flexion contracture	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0002036	Hiatus hernia	2	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0003549	HP:0001371	Flexion contracture	2	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0003549	HP:0001371	Flexion contracture	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0003549	HP:0001371	Flexion contracture	2	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0003549	HP:0009125	Lipodystrophy	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0003549	HP:0009125	Lipodystrophy	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0003549	HP:0009125	Lipodystrophy	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0003549	HP:0009125	Lipodystrophy	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0003549	HP:0001371	Flexion contracture	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0003549	HP:0040063	Decreased adipose tissue	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0003549	HP:0009125	Lipodystrophy	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0003549	HP:0001371	Flexion contracture	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0003549	HP:0040063	Decreased adipose tissue	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0003549	HP:0000934	Chondrocalcinosis	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional		192
HP:0003549	HP:0000987	Atypical scarring of skin	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent		192
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0003549	HP:0000987	Atypical scarring of skin	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0003549	HP:0002036	Hiatus hernia	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0003549	HP:0002036	Hiatus hernia	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0003549	HP:0000934	Chondrocalcinosis	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0003549	HP:0001371	Flexion contracture	2	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial			168
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		168
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0003549	HP:0001371	Flexion contracture	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0001371	Flexion contracture	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional		169
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0003549	HP:0001371	Flexion contracture	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0003549	HP:0001371	Flexion contracture	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia			435
HP:0003549	HP:0001371	Flexion contracture	2	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0003549	HP:0000987	Atypical scarring of skin	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0003549	HP:0001371	Flexion contracture	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0003549	HP:0001371	Flexion contracture	2	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0003549	HP:0001371	Flexion contracture	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	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:0003549	HP:0001371	Flexion contracture	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:0003549	HP:0004299	Hernia of the abdominal wall	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:0003549	HP:0004299	Hernia of the abdominal wall	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0003549	HP:0000987	Atypical scarring of skin	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		29
HP:0003549	HP:0001371	Flexion contracture	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		29
HP:0003549	HP:0009125	Lipodystrophy	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		29
HP:0003549	HP:0000987	Atypical scarring of skin	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0003549	HP:0001371	Flexion contracture	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0003549	HP:0001371	Flexion contracture	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0003549	HP:0009125	Lipodystrophy	2	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy			204
HP:0003549	HP:0001371	Flexion contracture	2	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0003549	HP:0009125	Lipodystrophy	2	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0001371	Flexion contracture	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.		22
HP:0003549	HP:0009125	Lipodystrophy	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0003549	HP:0000987	Atypical scarring of skin	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0003549	HP:0000987	Atypical scarring of skin	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0003549	HP:0001371	Flexion contracture	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0003549	HP:0001371	Flexion contracture	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0003549	HP:0001371	Flexion contracture	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0003549	HP:0001371	Flexion contracture	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional		101
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0001371	Flexion contracture	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0003549	HP:0001371	Flexion contracture	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0000987	Atypical scarring of skin	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0003549	HP:0001371	Flexion contracture	2	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	HP:0040283 - Occasional		7
HP:0003549	HP:0001371	Flexion contracture	2	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex			4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome			4
HP:0003549	HP:0001371	Flexion contracture	2	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040283 - Occasional		46
HP:0003549	HP:0001371	Flexion contracture	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0003549	HP:0001371	Flexion contracture	2	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0003549	HP:0001371	Flexion contracture	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0003549	HP:0001371	Flexion contracture	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0003549	HP:0040063	Decreased adipose tissue	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0003549	HP:0001371	Flexion contracture	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0003549	HP:0001371	Flexion contracture	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0003549	HP:0001371	Flexion contracture	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0003549	HP:0001371	Flexion contracture	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0003549	HP:0001371	Flexion contracture	2	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0003549	HP:0040063	Decreased adipose tissue	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0003549	HP:0009125	Lipodystrophy	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		105
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0003549	HP:0040063	Decreased adipose tissue	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0003549	HP:0009125	Lipodystrophy	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0003549	HP:0040063	Decreased adipose tissue	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0003549	HP:0009125	Lipodystrophy	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0003549	HP:0001371	Flexion contracture	2	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0003549	HP:0001371	Flexion contracture	2	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0003549	HP:0001371	Flexion contracture	2	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive			114
HP:0003549	HP:0000987	Atypical scarring of skin	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0003549	HP:0002036	Hiatus hernia	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0003549	HP:0000987	Atypical scarring of skin	2	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			15
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2			7
HP:0003549	HP:0000987	Atypical scarring of skin	2	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			7
HP:0003549	HP:0000987	Atypical scarring of skin	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0003549	HP:0001371	Flexion contracture	2	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.		449
HP:0003549	HP:0001371	Flexion contracture	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0003549	HP:0001371	Flexion contracture	2	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0003549	HP:0001371	Flexion contracture	2	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0003549	HP:0002036	Hiatus hernia	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0003549	HP:0001371	Flexion contracture	2	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0003549	HP:0009125	Lipodystrophy	2	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0001371	Flexion contracture	2	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0003549	HP:0001371	Flexion contracture	2	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	.		323
HP:0003549	HP:0000987	Atypical scarring of skin	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0003549	HP:0001371	Flexion contracture	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0001371	Flexion contracture	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0040063	Decreased adipose tissue	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0003549	HP:0012490	Panniculitis	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		87
HP:0003549	HP:0001371	Flexion contracture	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0003549	HP:0040063	Decreased adipose tissue	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0003549	HP:0009125	Lipodystrophy	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		11
HP:0003549	HP:0001371	Flexion contracture	2	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		11
HP:0003549	HP:0001371	Flexion contracture	2	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis			11
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0003549	HP:0040063	Decreased adipose tissue	2	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0003549	HP:0009125	Lipodystrophy	2	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3	.		11
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0003549	HP:0040063	Decreased adipose tissue	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0003549	HP:0009125	Lipodystrophy	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.		11
HP:0003549	HP:0040063	Decreased adipose tissue	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0003549	HP:0009125	Lipodystrophy	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		48
HP:0003549	HP:0001371	Flexion contracture	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0003549	HP:0009125	Lipodystrophy	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0003549	HP:0001371	Flexion contracture	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0003549	HP:0001371	Flexion contracture	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0003549	HP:0001371	Flexion contracture	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0003549	HP:0001371	Flexion contracture	2	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0003549	HP:0001371	Flexion contracture	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent		5
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0003549	HP:0001371	Flexion contracture	2	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0003549	HP:0001371	Flexion contracture	2	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0001371	Flexion contracture	2	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003549	HP:0001371	Flexion contracture	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003549	HP:0001371	Flexion contracture	2	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0003549	HP:0001371	Flexion contracture	2	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0001371	Flexion contracture	2	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0003549	HP:0100686	Enthesitis	2	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		8
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional		83
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0003549	HP:0001371	Flexion contracture	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0003549	HP:0001371	Flexion contracture	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0003549	HP:0001371	Flexion contracture	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0003549	HP:0001371	Flexion contracture	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0003549	HP:0000934	Chondrocalcinosis	2	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		169
HP:0003549	HP:0000934	Chondrocalcinosis	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional		169
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0003549	HP:0000934	Chondrocalcinosis	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional		169
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional		636
HP:0003549	HP:0001371	Flexion contracture	2	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0003549	HP:0000987	Atypical scarring of skin	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0003549	HP:0001371	Flexion contracture	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0003549	HP:0001371	Flexion contracture	2	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0003549	HP:0001371	Flexion contracture	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0003549	HP:0001371	Flexion contracture	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		200
HP:0003549	HP:0001371	Flexion contracture	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		200
HP:0003549	HP:0001371	Flexion contracture	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0003549	HP:0001371	Flexion contracture	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		20
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		161
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		146
HP:0003549	HP:0001371	Flexion contracture	2	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0003549	HP:0000987	Atypical scarring of skin	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0003549	HP:0000987	Atypical scarring of skin	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0003549	HP:0200056	Macular scar	2	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13	.		57
HP:0003549	HP:0001371	Flexion contracture	2	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0003549	HP:0001371	Flexion contracture	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0003549	HP:0001371	Flexion contracture	2	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0003549	HP:0001371	Flexion contracture	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0003549	HP:0009126	Increased adipose tissue	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0003549	HP:0001371	Flexion contracture	2	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0003549	HP:0001371	Flexion contracture	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	HP:0040283 - Occasional		19
HP:0003549	HP:0001371	Flexion contracture	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0003549	HP:0001371	Flexion contracture	2	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		74
HP:0003549	HP:0001371	Flexion contracture	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0003549	HP:0001371	Flexion contracture	2	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel	HP:0040283 - Occasional		53
HP:0003549	HP:0001371	Flexion contracture	2	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		88
HP:0003549	HP:0001371	Flexion contracture	2	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0003549	HP:0001371	Flexion contracture	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0003549	HP:0001371	Flexion contracture	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0001371	Flexion contracture	2	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		68
HP:0003549	HP:0000987	Atypical scarring of skin	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0003549	HP:0001371	Flexion contracture	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0003549	HP:0002036	Hiatus hernia	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0003549	HP:0000987	Atypical scarring of skin	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0003549	HP:0001371	Flexion contracture	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0003549	HP:0001371	Flexion contracture	2	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent		165
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	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:0003549	HP:0001371	Flexion contracture	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:0003549	HP:0004299	Hernia of the abdominal wall	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:0003549	HP:0001371	Flexion contracture	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional		15
HP:0003549	HP:0040063	Decreased adipose tissue	2	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0003549	HP:0009125	Lipodystrophy	2	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040280 - Obligate		8
HP:0003549	HP:0009125	Lipodystrophy	2	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5	.		8
HP:0003549	HP:0001371	Flexion contracture	2	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0003549	HP:0001371	Flexion contracture	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0003549	HP:0000934	Chondrocalcinosis	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040283 - Occasional		11
HP:0003549	HP:0000987	Atypical scarring of skin	2	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0003549	HP:0001371	Flexion contracture	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement			42
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement			42
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		3
HP:0003549	HP:0001371	Flexion contracture	2	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0003549	HP:0009125	Lipodystrophy	2	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome			7
HP:0003549	HP:0001371	Flexion contracture	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0003549	HP:0000987	Atypical scarring of skin	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0003549	HP:0000987	Atypical scarring of skin	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0003549	HP:0000987	Atypical scarring of skin	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent		61
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0003549	HP:0001371	Flexion contracture	2	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0003549	HP:0001371	Flexion contracture	2	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0003549	HP:0001371	Flexion contracture	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	HP:0040284 - Very rare		9
HP:0003549	HP:0001371	Flexion contracture	2	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12	.		16
HP:0003549	HP:0001371	Flexion contracture	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0003549	HP:0001371	Flexion contracture	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome			71
HP:0003549	HP:0001371	Flexion contracture	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0001371	Flexion contracture	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0003549	HP:0001371	Flexion contracture	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0001371	Flexion contracture	2	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.		222
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0001371	Flexion contracture	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent		65
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0003549	HP:0001371	Flexion contracture	2	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0003549	HP:0001371	Flexion contracture	2	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent		65
HP:0003549	HP:0001371	Flexion contracture	2	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		65
HP:0003549	HP:0001371	Flexion contracture	2	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0003549	HP:0001371	Flexion contracture	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0003549	HP:0000559	Corneal scarring	2	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040282 - Frequent		129
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa			129
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040284 - Very rare		129
HP:0003549	HP:0001371	Flexion contracture	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0003549	HP:0002036	Hiatus hernia	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0003549	HP:0100823	Genital hernia	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	HP:0040283 - Occasional		373
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.		373
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.		373
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		243
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2			243
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.		243
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.		243
HP:0003549	HP:0001371	Flexion contracture	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040280 - Obligate		3
HP:0003549	HP:0001371	Flexion contracture	2	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.		284
HP:0003549	HP:0001371	Flexion contracture	2	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0003549	HP:0001371	Flexion contracture	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0003549	HP:0009125	Lipodystrophy	2	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003549	HP:0100823	Genital hernia	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0003549	HP:0001371	Flexion contracture	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0003549	HP:0100823	Genital hernia	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0003549	HP:0002036	Hiatus hernia	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0003549	HP:0100823	Genital hernia	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0003549	HP:0002036	Hiatus hernia	2	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0003549	HP:0002036	Hiatus hernia	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0003549	HP:0100823	Genital hernia	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0001371	Flexion contracture	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent		442
HP:0003549	HP:0001371	Flexion contracture	2	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0001371	Flexion contracture	2	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent		442
HP:0003549	HP:0001371	Flexion contracture	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0001371	Flexion contracture	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent		478
HP:0003549	HP:0001371	Flexion contracture	2	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0001371	Flexion contracture	2	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent		478
HP:0003549	HP:0001371	Flexion contracture	2	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0003549	HP:0001371	Flexion contracture	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0001371	Flexion contracture	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent		702
HP:0003549	HP:0001371	Flexion contracture	2	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0001371	Flexion contracture	2	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent		702
HP:0003549	HP:0001371	Flexion contracture	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040281 - Very frequent		263
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040281 - Very frequent		263
HP:0003549	HP:0001371	Flexion contracture	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0003549	HP:0001371	Flexion contracture	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		263
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa			263
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant			263
HP:0003549	HP:0000559	Corneal scarring	2	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0003549	HP:0001371	Flexion contracture	2	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa			263
HP:0003549	HP:0000987	Atypical scarring of skin	2	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn			263
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0003549	HP:0001371	Flexion contracture	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent		6
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.		6
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0000987	Atypical scarring of skin	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent		72
HP:0003549	HP:0001371	Flexion contracture	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0003549	HP:0000987	Atypical scarring of skin	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0003549	HP:0001371	Flexion contracture	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0003549	HP:0000987	Atypical scarring of skin	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0003549	HP:0001371	Flexion contracture	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0003549	HP:0000987	Atypical scarring of skin	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0003549	HP:0000559	Corneal scarring	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0003549	HP:0000987	Atypical scarring of skin	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0003549	HP:0001371	Flexion contracture	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0001371	Flexion contracture	2	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0003549	HP:0001371	Flexion contracture	2	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0003549	HP:0001371	Flexion contracture	2	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0003549	HP:0000987	Atypical scarring of skin	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0003549	HP:0009125	Lipodystrophy	2	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy			46
HP:0003549	HP:0001371	Flexion contracture	2	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	HP:0040282 - Frequent		46
HP:0003549	HP:0001371	Flexion contracture	2	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003549	HP:0009125	Lipodystrophy	2	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy			104
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0003549	HP:0001371	Flexion contracture	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003549	HP:0001371	Flexion contracture	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0003549	HP:0000987	Atypical scarring of skin	2	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003549	HP:0001371	Flexion contracture	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent		127
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040283 - Occasional		2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis			2
HP:0003549	HP:0001371	Flexion contracture	2	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0003549	HP:0001371	Flexion contracture	2	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0003549	HP:0001371	Flexion contracture	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare		60
HP:0003549	HP:0001371	Flexion contracture	2	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.		60
HP:0003549	HP:0001371	Flexion contracture	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0003549	HP:0001371	Flexion contracture	2	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040282 - Frequent		145
HP:0003549	HP:0001371	Flexion contracture	2	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0003549	HP:0009125	Lipodystrophy	2	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040283 - Occasional		62
HP:0003549	HP:0001371	Flexion contracture	2	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003549	HP:0001371	Flexion contracture	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0003549	HP:0001371	Flexion contracture	2	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0003549	HP:0009125	Lipodystrophy	2	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy			263
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0001371	Flexion contracture	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0003549	HP:0000987	Atypical scarring of skin	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0003549	HP:0001371	Flexion contracture	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0003549	HP:0001371	Flexion contracture	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003549	HP:0000987	Atypical scarring of skin	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0003549	HP:0001371	Flexion contracture	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0003549	HP:0001371	Flexion contracture	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		22
HP:0003549	HP:0001371	Flexion contracture	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		22
HP:0003549	HP:0001371	Flexion contracture	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0003549	HP:0001371	Flexion contracture	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0001371	Flexion contracture	2	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:0003549	HP:0004299	Hernia of the abdominal wall	2	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:0003549	HP:0001371	Flexion contracture	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0003549	HP:0001371	Flexion contracture	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		3
HP:0003549	HP:0001371	Flexion contracture	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		3
HP:0003549	HP:0001371	Flexion contracture	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0003549	HP:0001371	Flexion contracture	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4			48
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome			48
HP:0003549	HP:0001371	Flexion contracture	2	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0003549	HP:0001371	Flexion contracture	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0003549	HP:0009125	Lipodystrophy	2	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy			1496
HP:0003549	HP:0001371	Flexion contracture	2	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0003549	HP:0100686	Enthesitis	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent		48
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0003549	HP:0001371	Flexion contracture	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0003549	HP:0001371	Flexion contracture	2	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	HP:0040283 - Occasional		103
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0003549	HP:0009125	Lipodystrophy	2	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0003549	HP:0001371	Flexion contracture	2	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.		167
HP:0003549	HP:0001371	Flexion contracture	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0003549	HP:0001371	Flexion contracture	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0009125	Lipodystrophy	2	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy			55
HP:0003549	HP:0001371	Flexion contracture	2	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional		38
HP:0003549	HP:0001371	Flexion contracture	2	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		38
HP:0003549	HP:0001371	Flexion contracture	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0003549	HP:0009125	Lipodystrophy	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0003549	HP:0001371	Flexion contracture	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0003549	HP:0001371	Flexion contracture	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0003549	HP:0001371	Flexion contracture	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0003549	HP:0001371	Flexion contracture	2	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0003549	HP:0001371	Flexion contracture	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0003549	HP:0001371	Flexion contracture	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0003549	HP:0000987	Atypical scarring of skin	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0003549	HP:0001371	Flexion contracture	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0003549	HP:0009125	Lipodystrophy	2	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy			358
HP:0003549	HP:0009125	Lipodystrophy	2	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy			747
HP:0003549	HP:0001371	Flexion contracture	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	.		38
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II			38
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	DSPP CL E G H	1834	3054	OMIM:125490	Dentinogenesis imperfecta 1	.		38
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III			38
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III			38
HP:0003549	HP:0000559	Corneal scarring	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.		108
HP:0003549	HP:0001371	Flexion contracture	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.		108
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0003549	HP:0001371	Flexion contracture	2	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0003549	HP:0001371	Flexion contracture	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0003549	HP:0001371	Flexion contracture	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003549	HP:0001371	Flexion contracture	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0001371	Flexion contracture	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0003549	HP:0001371	Flexion contracture	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0003549	HP:0001371	Flexion contracture	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0003549	HP:0000987	Atypical scarring of skin	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003549	HP:0001371	Flexion contracture	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003549	HP:0001371	Flexion contracture	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0001371	Flexion contracture	2	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia			115
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia			56
HP:0003549	HP:0001371	Flexion contracture	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.		4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0003549	HP:0001371	Flexion contracture	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1			45
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.		45
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040283 - Occasional		27
HP:0003549	HP:0001371	Flexion contracture	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0003549	HP:0001371	Flexion contracture	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040283 - Occasional		3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0003549	HP:0100823	Genital hernia	2	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0003549	HP:0001371	Flexion contracture	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003549	HP:0001371	Flexion contracture	2	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.		62
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0003549	HP:0001371	Flexion contracture	2	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0003549	HP:0001371	Flexion contracture	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0003549	HP:0009125	Lipodystrophy	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		107
HP:0003549	HP:0001371	Flexion contracture	2	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ENAM CL E G H	10117	3344	OMIM:104500	Amelogenesis imperfecta, type IB			50
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC			50
HP:0003549	HP:0100686	Enthesitis	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent		151
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0003549	HP:0000987	Atypical scarring of skin	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0003549	HP:0001371	Flexion contracture	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0003549	HP:0000559	Corneal scarring	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0003549	HP:0000987	Atypical scarring of skin	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0003549	HP:0001371	Flexion contracture	2	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0003549	HP:0001371	Flexion contracture	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0003549	HP:0000987	Atypical scarring of skin	2	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent		3
HP:0003549	HP:0001371	Flexion contracture	2	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0003549	HP:0001371	Flexion contracture	2	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0003549	HP:0001371	Flexion contracture	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0003549	HP:0001371	Flexion contracture	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0003549	HP:0001371	Flexion contracture	2	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0001371	Flexion contracture	2	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0001371	Flexion contracture	2	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003549	HP:0001371	Flexion contracture	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003549	HP:0040063	Decreased adipose tissue	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003549	HP:0001371	Flexion contracture	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0003549	HP:0040063	Decreased adipose tissue	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003549	HP:0001371	Flexion contracture	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003549	HP:0040063	Decreased adipose tissue	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0003549	HP:0001371	Flexion contracture	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0003549	HP:0001371	Flexion contracture	2	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0003549	HP:0000559	Corneal scarring	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0003549	HP:0040063	Decreased adipose tissue	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0003549	HP:0001371	Flexion contracture	2	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0003549	HP:0001371	Flexion contracture	2	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0001371	Flexion contracture	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0003549	HP:0001371	Flexion contracture	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0003549	HP:0001371	Flexion contracture	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0003549	HP:0001371	Flexion contracture	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare		199
HP:0003549	HP:0000291	Abnormality of facial adipose tissue	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003549	HP:0000987	Atypical scarring of skin	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003549	HP:0040063	Decreased adipose tissue	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003549	HP:0001371	Flexion contracture	2	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0000291	Abnormality of facial adipose tissue	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0000987	Atypical scarring of skin	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0001371	Flexion contracture	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0040063	Decreased adipose tissue	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0003549	HP:0001371	Flexion contracture	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0003549	HP:0001371	Flexion contracture	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0003549	HP:0001371	Flexion contracture	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare		55
HP:0003549	HP:0001371	Flexion contracture	2	ERGIC1 CL E G H	57222	29205	OMIM:208100	Arthrogryposis multiplex congenita, Neurogenic type
HP:0003549	HP:0001371	Flexion contracture	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040280 - Obligate
HP:0003549	HP:0001371	Flexion contracture	2	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0003549	HP:0001371	Flexion contracture	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0003549	HP:0001371	Flexion contracture	2	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0003549	HP:0001371	Flexion contracture	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0003549	HP:0001371	Flexion contracture	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional		33
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0001371	Flexion contracture	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0003549	HP:0001371	Flexion contracture	2	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0003549	HP:0001371	Flexion contracture	2	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0003549	HP:0001371	Flexion contracture	2	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0003549	HP:0001371	Flexion contracture	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0003549	HP:0001371	Flexion contracture	2	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0003549	HP:0001371	Flexion contracture	2	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0003549	HP:0001371	Flexion contracture	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0003549	HP:0001371	Flexion contracture	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0003549	HP:0001371	Flexion contracture	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0003549	HP:0001371	Flexion contracture	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0003549	HP:0000987	Atypical scarring of skin	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0003549	HP:0001371	Flexion contracture	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0001371	Flexion contracture	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0003549	HP:0001371	Flexion contracture	2	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A			303
HP:0003549	HP:0001371	Flexion contracture	2	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A			303
HP:0003549	HP:0000987	Atypical scarring of skin	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040281 - Very frequent		16
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0003549	HP:0001371	Flexion contracture	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FAM83H CL E G H	286077	24797	OMIM:130900	Amelogenesis imperfecta, type III			22
HP:0003549	HP:0001371	Flexion contracture	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0003549	HP:0001371	Flexion contracture	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003549	HP:0012490	Panniculitis	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		59
HP:0003549	HP:0012490	Panniculitis	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		37
HP:0003549	HP:0001371	Flexion contracture	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0003549	HP:0001371	Flexion contracture	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0003549	HP:0001371	Flexion contracture	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1			63
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.		63
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA			63
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0003549	HP:0040063	Decreased adipose tissue	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0003549	HP:0009125	Lipodystrophy	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0003549	HP:0001371	Flexion contracture	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.		1361
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0003549	HP:0040063	Decreased adipose tissue	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0003549	HP:0001371	Flexion contracture	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent		1361
HP:0003549	HP:0009125	Lipodystrophy	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0003549	HP:0001371	Flexion contracture	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0009125	Lipodystrophy	2	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0003549	HP:0001371	Flexion contracture	2	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0009125	Lipodystrophy	2	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0001371	Flexion contracture	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0001371	Flexion contracture	2	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0003549	HP:0001371	Flexion contracture	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0001371	Flexion contracture	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0001371	Flexion contracture	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0001371	Flexion contracture	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent		136
HP:0003549	HP:0000987	Atypical scarring of skin	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional		136
HP:0003549	HP:0001371	Flexion contracture	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional		136
HP:0003549	HP:0001371	Flexion contracture	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent		17
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome			17
HP:0003549	HP:0001371	Flexion contracture	2	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent		18
HP:0003549	HP:0001371	Flexion contracture	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0003549	HP:0001371	Flexion contracture	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		17
HP:0003549	HP:0001371	Flexion contracture	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		17
HP:0003549	HP:0001371	Flexion contracture	2	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0003549	HP:0001371	Flexion contracture	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0003549	HP:0009125	Lipodystrophy	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		172
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly			172
HP:0003549	HP:0001371	Flexion contracture	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		172
HP:0003549	HP:0001371	Flexion contracture	2	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia			172
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0003549	HP:0001371	Flexion contracture	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0003549	HP:0001371	Flexion contracture	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		175
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome			175
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent		175
HP:0003549	HP:0001371	Flexion contracture	2	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0003549	HP:0001371	Flexion contracture	2	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent		145
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome			145
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0003549	HP:0040063	Decreased adipose tissue	2	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0003549	HP:0001371	Flexion contracture	2	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.		68
HP:0003549	HP:0001371	Flexion contracture	2	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.		68
HP:0003549	HP:0001371	Flexion contracture	2	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.		68
HP:0003549	HP:0001371	Flexion contracture	2	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.		68
HP:0003549	HP:0001371	Flexion contracture	2	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0003549	HP:0001371	Flexion contracture	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0003549	HP:0009125	Lipodystrophy	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		68
HP:0003549	HP:0009125	Lipodystrophy	2	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy			36
HP:0003549	HP:0001371	Flexion contracture	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0003549	HP:0001371	Flexion contracture	2	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0003549	HP:0001371	Flexion contracture	2	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0003549	HP:0001371	Flexion contracture	2	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0003549	HP:0001371	Flexion contracture	2	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.		61
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0003549	HP:0000987	Atypical scarring of skin	2	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0003549	HP:0001371	Flexion contracture	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0003549	HP:0001371	Flexion contracture	2	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0003549	HP:0001371	Flexion contracture	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0003549	HP:0001371	Flexion contracture	2	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0003549	HP:0001371	Flexion contracture	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0003549	HP:0001371	Flexion contracture	2	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0003549	HP:0001371	Flexion contracture	2	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040281 - Very frequent		184
HP:0003549	HP:0009125	Lipodystrophy	2	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy			184
HP:0003549	HP:0001371	Flexion contracture	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0003549	HP:0001371	Flexion contracture	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0003549	HP:0001371	Flexion contracture	2	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.		184
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome			332
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0003549	HP:0009125	Lipodystrophy	2	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome			493
HP:0003549	HP:0000987	Atypical scarring of skin	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003549	HP:0001371	Flexion contracture	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003549	HP:0001371	Flexion contracture	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction	HP:0040282 - Frequent		493
HP:0003549	HP:0001371	Flexion contracture	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0003549	HP:0001371	Flexion contracture	2	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0001371	Flexion contracture	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome			493
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0003549	HP:0001371	Flexion contracture	2	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0003549	HP:0001371	Flexion contracture	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0003549	HP:0001371	Flexion contracture	2	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0003549	HP:0001371	Flexion contracture	2	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.		47
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0003549	HP:0040063	Decreased adipose tissue	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0003549	HP:0009125	Lipodystrophy	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0003549	HP:0001371	Flexion contracture	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0003549	HP:0001371	Flexion contracture	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		48
HP:0003549	HP:0001371	Flexion contracture	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		48
HP:0003549	HP:0001371	Flexion contracture	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0003549	HP:0001371	Flexion contracture	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent		184
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly			198
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome			198
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0003549	HP:0000987	Atypical scarring of skin	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0003549	HP:0001371	Flexion contracture	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0003549	HP:0009125	Lipodystrophy	2	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0003549	HP:0001371	Flexion contracture	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0003549	HP:0001371	Flexion contracture	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0003549	HP:0000934	Chondrocalcinosis	2	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal	.		17
HP:0003549	HP:0001371	Flexion contracture	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0003549	HP:0012490	Panniculitis	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0003549	HP:0001371	Flexion contracture	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0003549	HP:0001371	Flexion contracture	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1			46
HP:0003549	HP:0001371	Flexion contracture	2	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003549	HP:0001371	Flexion contracture	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0003549	HP:0001371	Flexion contracture	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		2
HP:0003549	HP:0001371	Flexion contracture	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		2
HP:0003549	HP:0001371	Flexion contracture	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0003549	HP:0000987	Atypical scarring of skin	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional		87
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040281 - Very frequent		37
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare		37
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0003549	HP:0009125	Lipodystrophy	2	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy			35
HP:0003549	HP:0001371	Flexion contracture	2	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0003549	HP:0001371	Flexion contracture	2	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040282 - Frequent
HP:0003549	HP:0001371	Flexion contracture	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0003549	HP:0001371	Flexion contracture	2	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0003549	HP:0001371	Flexion contracture	2	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0003549	HP:0001371	Flexion contracture	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0003549	HP:0000934	Chondrocalcinosis	2	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		51
HP:0003549	HP:0001371	Flexion contracture	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0003549	HP:0001371	Flexion contracture	2	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0003549	HP:0001371	Flexion contracture	2	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	.		108
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0003549	HP:0001371	Flexion contracture	2	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.		52
HP:0003549	HP:0001371	Flexion contracture	2	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0003549	HP:0001371	Flexion contracture	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0003549	HP:0001371	Flexion contracture	2	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	HP:0040284 - Very rare		43
HP:0003549	HP:0001371	Flexion contracture	2	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		128
HP:0003549	HP:0001371	Flexion contracture	2	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0003549	HP:0001371	Flexion contracture	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040281 - Very frequent		68
HP:0003549	HP:0001371	Flexion contracture	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0003549	HP:0001371	Flexion contracture	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0003549	HP:0001371	Flexion contracture	2	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3			68
HP:0003549	HP:0001371	Flexion contracture	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0003549	HP:0001371	Flexion contracture	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0003549	HP:0001371	Flexion contracture	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0003549	HP:0000987	Atypical scarring of skin	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0003549	HP:0000559	Corneal scarring	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0003549	HP:0001371	Flexion contracture	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0003549	HP:0000987	Atypical scarring of skin	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003549	HP:0001371	Flexion contracture	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003549	HP:0000987	Atypical scarring of skin	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003549	HP:0001371	Flexion contracture	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0003549	HP:0001371	Flexion contracture	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0003549	HP:0001371	Flexion contracture	2	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1			45
HP:0003549	HP:0001371	Flexion contracture	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0003549	HP:0001371	Flexion contracture	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		173
HP:0003549	HP:0001371	Flexion contracture	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		173
HP:0003549	HP:0001371	Flexion contracture	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional		270
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional		270
HP:0003549	HP:0001371	Flexion contracture	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0001371	Flexion contracture	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0003549	HP:0001371	Flexion contracture	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0003549	HP:0002036	Hiatus hernia	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional		143
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0003549	HP:0002036	Hiatus hernia	2	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		63
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia			63
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1			63
HP:0003549	HP:0002036	Hiatus hernia	2	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		46
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia			46
HP:0003549	HP:0002036	Hiatus hernia	2	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0003549	HP:0001371	Flexion contracture	2	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0003549	HP:0001371	Flexion contracture	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0003549	HP:0001371	Flexion contracture	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0003549	HP:0001371	Flexion contracture	2	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		34
HP:0003549	HP:0000934	Chondrocalcinosis	2	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II	.		16
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II			16
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0001371	Flexion contracture	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0040063	Decreased adipose tissue	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0003549	HP:0001371	Flexion contracture	2	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.		58
HP:0003549	HP:0001371	Flexion contracture	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003549	HP:0001371	Flexion contracture	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0003549	HP:0001371	Flexion contracture	2	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0003549	HP:0001371	Flexion contracture	2	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0003549	HP:0001371	Flexion contracture	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0003549	HP:0002036	Hiatus hernia	2	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0003549	HP:0001371	Flexion contracture	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0003549	HP:0001371	Flexion contracture	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0003549	HP:0001371	Flexion contracture	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0003549	HP:0002036	Hiatus hernia	2	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		18
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia			18
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1			18
HP:0003549	HP:0001371	Flexion contracture	2	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6			3
HP:0003549	HP:0001371	Flexion contracture	2	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome			33
HP:0003549	HP:0001371	Flexion contracture	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0003549	HP:0001371	Flexion contracture	2	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0003549	HP:0001371	Flexion contracture	2	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures			274
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0003549	HP:0009125	Lipodystrophy	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0003549	HP:0001371	Flexion contracture	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003549	HP:0001371	Flexion contracture	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003549	HP:0040063	Decreased adipose tissue	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0001371	Flexion contracture	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0040063	Decreased adipose tissue	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0000987	Atypical scarring of skin	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0003549	HP:0001371	Flexion contracture	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0003549	HP:0001371	Flexion contracture	2	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia			4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0003549	HP:0001371	Flexion contracture	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0003549	HP:0040063	Decreased adipose tissue	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0003549	HP:0001371	Flexion contracture	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0001371	Flexion contracture	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0003549	HP:0009125	Lipodystrophy	2	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy			2
HP:0003549	HP:0012490	Panniculitis	2	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040281 - Very frequent
HP:0003549	HP:0012490	Panniculitis	2	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	.
HP:0003549	HP:0001371	Flexion contracture	2	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional		200
HP:0003549	HP:0001371	Flexion contracture	2	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional		88
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent		11
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.		11
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040283 - Occasional		33
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		10
HP:0003549	HP:0001371	Flexion contracture	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0003549	HP:0001371	Flexion contracture	2	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0003549	HP:0000987	Atypical scarring of skin	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0003549	HP:0001371	Flexion contracture	2	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0003549	HP:0001371	Flexion contracture	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional		12
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0003549	HP:0200056	Macular scar	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent		4
HP:0003549	HP:0100686	Enthesitis	2	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent		4
HP:0003549	HP:0100686	Enthesitis	2	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.		4
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003549	HP:0001371	Flexion contracture	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		2
HP:0003549	HP:0001371	Flexion contracture	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0003549	HP:0001371	Flexion contracture	2	HOXD13 CL E G H	3239	5136	OMIM:610713	BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD			25
HP:0003549	HP:0001371	Flexion contracture	2	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5			25
HP:0003549	HP:0001371	Flexion contracture	2	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V			25
HP:0003549	HP:0001371	Flexion contracture	2	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040282 - Frequent		25
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0003549	HP:0001371	Flexion contracture	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent		113
HP:0003549	HP:0001371	Flexion contracture	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0003549	HP:0001371	Flexion contracture	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003549	HP:0001371	Flexion contracture	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0003549	HP:0001371	Flexion contracture	2	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0003549	HP:0001371	Flexion contracture	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0003549	HP:0001371	Flexion contracture	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0003549	HP:0001371	Flexion contracture	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003549	HP:0001371	Flexion contracture	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003549	HP:0001371	Flexion contracture	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0003549	HP:0000934	Chondrocalcinosis	2	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0003549	HP:0001371	Flexion contracture	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0003549	HP:0001371	Flexion contracture	2	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0003549	HP:0001371	Flexion contracture	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0003549	HP:0000987	Atypical scarring of skin	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0003549	HP:0000987	Atypical scarring of skin	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0003549	HP:0001371	Flexion contracture	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent		86
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0001371	Flexion contracture	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent		86
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0001371	Flexion contracture	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0003549	HP:0001371	Flexion contracture	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0003549	HP:0001371	Flexion contracture	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0003549	HP:0001371	Flexion contracture	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0001371	Flexion contracture	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0003549	HP:0009125	Lipodystrophy	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0003549	HP:0012490	Panniculitis	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0003549	HP:0009721	Shagreen patch	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0003549	HP:0009721	Shagreen patch	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		93
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0003549	HP:0000987	Atypical scarring of skin	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0003549	HP:0000987	Atypical scarring of skin	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		11
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0003549	HP:0000987	Atypical scarring of skin	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0003549	HP:0040063	Decreased adipose tissue	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0003549	HP:0009125	Lipodystrophy	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0003549	HP:0001371	Flexion contracture	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0003549	HP:0012490	Panniculitis	2	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0003549	HP:0001371	Flexion contracture	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		14
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		196
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0003549	HP:0001371	Flexion contracture	2	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0003549	HP:0100686	Enthesitis	2	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		65
HP:0003549	HP:0001371	Flexion contracture	2	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0003549	HP:0100686	Enthesitis	2	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0003549	HP:0001371	Flexion contracture	2	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0003549	HP:0001371	Flexion contracture	2	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0003549	HP:0000987	Atypical scarring of skin	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0003549	HP:0001371	Flexion contracture	2	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0003549	HP:0000987	Atypical scarring of skin	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0003549	HP:0000987	Atypical scarring of skin	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0003549	HP:0009126	Increased adipose tissue	2	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.		7
HP:0003549	HP:0001371	Flexion contracture	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0003549	HP:0040063	Decreased adipose tissue	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0003549	HP:0040063	Decreased adipose tissue	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0003549	HP:0040063	Decreased adipose tissue	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0003549	HP:0000987	Atypical scarring of skin	2	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001371	Flexion contracture	2	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0001371	Flexion contracture	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0001371	Flexion contracture	2	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		4
HP:0003549	HP:0001371	Flexion contracture	2	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis			4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia			99
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy			2
HP:0003549	HP:0001371	Flexion contracture	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0003549	HP:0001371	Flexion contracture	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			79
HP:0003549	HP:0001371	Flexion contracture	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0003549	HP:0000987	Atypical scarring of skin	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0003549	HP:0001371	Flexion contracture	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0003549	HP:0000987	Atypical scarring of skin	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0003549	HP:0001371	Flexion contracture	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0003549	HP:0000987	Atypical scarring of skin	2	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			124
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0003549	HP:0000987	Atypical scarring of skin	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040284 - Very rare		124
HP:0003549	HP:0001371	Flexion contracture	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0003549	HP:0001371	Flexion contracture	2	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H			8
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0003549	HP:0001371	Flexion contracture	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0003549	HP:0001371	Flexion contracture	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0003549	HP:0001371	Flexion contracture	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0003549	HP:0001371	Flexion contracture	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0003549	HP:0001371	Flexion contracture	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0003549	HP:0001371	Flexion contracture	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity	HP:0040283 - Occasional		145
HP:0003549	HP:0001371	Flexion contracture	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0003549	HP:0000934	Chondrocalcinosis	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0003549	HP:0001371	Flexion contracture	2	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0003549	HP:0001371	Flexion contracture	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0003549	HP:0000291	Abnormality of facial adipose tissue	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0003549	HP:0001371	Flexion contracture	2	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.		3
HP:0003549	HP:0001371	Flexion contracture	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0003549	HP:0040063	Decreased adipose tissue	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0003549	HP:0040063	Decreased adipose tissue	2	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0003549	HP:0009125	Lipodystrophy	2	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0003549	HP:0009125	Lipodystrophy	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0003549	HP:0040063	Decreased adipose tissue	2	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0003549	HP:0001371	Flexion contracture	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0001371	Flexion contracture	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia			1
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0003549	HP:0001371	Flexion contracture	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0001371	Flexion contracture	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0003549	HP:0001371	Flexion contracture	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		53
HP:0003549	HP:0001371	Flexion contracture	2	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0003549	HP:0001371	Flexion contracture	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0003549	HP:0000987	Atypical scarring of skin	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0003549	HP:0001371	Flexion contracture	2	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG			4
HP:0003549	HP:0012490	Panniculitis	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0003549	HP:0001371	Flexion contracture	2	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0003549	HP:0001371	Flexion contracture	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0003549	HP:0001371	Flexion contracture	2	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	HP:0040283 - Occasional		276
HP:0003549	HP:0001371	Flexion contracture	2	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent		276
HP:0003549	HP:0001371	Flexion contracture	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0003549	HP:0001371	Flexion contracture	2	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0003549	HP:0001371	Flexion contracture	2	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional		167
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0003549	HP:0001371	Flexion contracture	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003549	HP:0001371	Flexion contracture	2	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0003549	HP:0000987	Atypical scarring of skin	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0003549	HP:0001371	Flexion contracture	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.		1
HP:0003549	HP:0001371	Flexion contracture	2	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0003549	HP:0001371	Flexion contracture	2	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0003549	HP:0001371	Flexion contracture	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0003549	HP:0001371	Flexion contracture	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0003549	HP:0001371	Flexion contracture	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		13
HP:0003549	HP:0001371	Flexion contracture	2	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0003549	HP:0001371	Flexion contracture	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0003549	HP:0001371	Flexion contracture	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0003549	HP:0001371	Flexion contracture	2	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	.		42
HP:0003549	HP:0000987	Atypical scarring of skin	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0003549	HP:0001371	Flexion contracture	2	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	KLK4 CL E G H	9622	6365	OMIM:204700	Amelogenesis imperfecta, hypomaturation type, iia1	.		6
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0003549	HP:0001371	Flexion contracture	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		660
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome			1
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0003549	HP:0009125	Lipodystrophy	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		196
HP:0003549	HP:0001371	Flexion contracture	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0003549	HP:0001371	Flexion contracture	2	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0003549	HP:0001371	Flexion contracture	2	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin	HP:0040282 - Frequent		100
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0003549	HP:0000987	Atypical scarring of skin	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0003549	HP:0000987	Atypical scarring of skin	2	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0003549	HP:0000987	Atypical scarring of skin	2	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			110
HP:0003549	HP:0000987	Atypical scarring of skin	2	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome	HP:0040281 - Very frequent		110
HP:0003549	HP:0001371	Flexion contracture	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:0001371	Flexion contracture	2	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0003549	HP:0000987	Atypical scarring of skin	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0003549	HP:0000987	Atypical scarring of skin	2	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			173
HP:0003549	HP:0000987	Atypical scarring of skin	2	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0003549	HP:0001371	Flexion contracture	2	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0003549	HP:0001371	Flexion contracture	2	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0003549	HP:0001371	Flexion contracture	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0003549	HP:0001371	Flexion contracture	2	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0003549	HP:0001371	Flexion contracture	2	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0003549	HP:0001371	Flexion contracture	2	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0002036	Hiatus hernia	2	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001371	Flexion contracture	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent		411
HP:0003549	HP:0001371	Flexion contracture	2	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0003549	HP:0001371	Flexion contracture	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0003549	HP:0000987	Atypical scarring of skin	2	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0003549	HP:0000987	Atypical scarring of skin	2	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome			116
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0003549	HP:0009125	Lipodystrophy	2	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy			279
HP:0003549	HP:0001371	Flexion contracture	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA			167
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0003549	HP:0000987	Atypical scarring of skin	2	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0001371	Flexion contracture	2	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0003549	HP:0000987	Atypical scarring of skin	2	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0003549	HP:0000987	Atypical scarring of skin	2	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0003549	HP:0000987	Atypical scarring of skin	2	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0003549	HP:0001371	Flexion contracture	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0003549	HP:0001371	Flexion contracture	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0003549	HP:0001371	Flexion contracture	2	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	.		136
HP:0003549	HP:0001371	Flexion contracture	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0003549	HP:0001371	Flexion contracture	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0003549	HP:0012490	Panniculitis	2	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.		1
HP:0003549	HP:0009125	Lipodystrophy	2	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy			286
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0003549	HP:0040063	Decreased adipose tissue	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0003549	HP:0000987	Atypical scarring of skin	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0003549	HP:0001371	Flexion contracture	2	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome	.		68
HP:0003549	HP:0001371	Flexion contracture	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040282 - Frequent		68
HP:0003549	HP:0000987	Atypical scarring of skin	2	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis			68
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		13
HP:0003549	HP:0001371	Flexion contracture	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0001371	Flexion contracture	2	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0001371	Flexion contracture	2	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0003549	HP:0001371	Flexion contracture	2	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0003549	HP:0001371	Flexion contracture	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0003549	HP:0001371	Flexion contracture	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0003549	HP:0040063	Decreased adipose tissue	2	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0003549	HP:0009125	Lipodystrophy	2	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040280 - Obligate		7
HP:0003549	HP:0009126	Increased adipose tissue	2	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0003549	HP:0009125	Lipodystrophy	2	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.		7
HP:0003549	HP:0001371	Flexion contracture	2	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0003549	HP:0001371	Flexion contracture	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0003549	HP:0009125	Lipodystrophy	2	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0003549	HP:0000934	Chondrocalcinosis	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0003549	HP:0009125	Lipodystrophy	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0003549	HP:0001371	Flexion contracture	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0009125	Lipodystrophy	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0003549	HP:0001371	Flexion contracture	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0009125	Lipodystrophy	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0003549	HP:0000291	Abnormality of facial adipose tissue	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003549	HP:0040063	Decreased adipose tissue	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003549	HP:0009125	Lipodystrophy	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent		645
HP:0003549	HP:0009126	Increased adipose tissue	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003549	HP:0001371	Flexion contracture	2	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040282 - Frequent		645
HP:0003549	HP:0001371	Flexion contracture	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0003549	HP:0001371	Flexion contracture	2	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive			645
HP:0003549	HP:0009125	Lipodystrophy	2	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	HP:0040282 - Frequent		645
HP:0003549	HP:0009125	Lipodystrophy	2	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy			645
HP:0003549	HP:0040063	Decreased adipose tissue	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0003549	HP:0009125	Lipodystrophy	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent		645
HP:0003549	HP:0009125	Lipodystrophy	2	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0003549	HP:0040063	Decreased adipose tissue	2	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0003549	HP:0040063	Decreased adipose tissue	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0003549	HP:0000291	Abnormality of facial adipose tissue	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0003549	HP:0040063	Decreased adipose tissue	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0003549	HP:0009125	Lipodystrophy	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0003549	HP:0009126	Increased adipose tissue	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0003549	HP:0009125	Lipodystrophy	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0003549	HP:0009125	Lipodystrophy	2	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	.		645
HP:0003549	HP:0000291	Abnormality of facial adipose tissue	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0001371	Flexion contracture	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0003549	HP:0040063	Decreased adipose tissue	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0009125	Lipodystrophy	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0003549	HP:0009126	Increased adipose tissue	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0001371	Flexion contracture	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional		645
HP:0003549	HP:0001371	Flexion contracture	2	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.		645
HP:0003549	HP:0001371	Flexion contracture	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0001371	Flexion contracture	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional		44
HP:0003549	HP:0009125	Lipodystrophy	2	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0003549	HP:0000291	Abnormality of facial adipose tissue	2	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0003549	HP:0040063	Decreased adipose tissue	2	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0003549	HP:0001371	Flexion contracture	2	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0003549	HP:0001371	Flexion contracture	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0003549	HP:0001371	Flexion contracture	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0001371	Flexion contracture	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040282 - Frequent		165
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent		8
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040281 - Very frequent		8
HP:0003549	HP:0001371	Flexion contracture	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		8
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0003549	HP:0001371	Flexion contracture	2	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040283 - Occasional		186
HP:0003549	HP:0001371	Flexion contracture	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0003549	HP:0000987	Atypical scarring of skin	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0003549	HP:0000987	Atypical scarring of skin	2	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent		289
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		124
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia			26
HP:0003549	HP:0001371	Flexion contracture	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0003549	HP:0009125	Lipodystrophy	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0003549	HP:0012490	Panniculitis	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0003549	HP:0001371	Flexion contracture	2	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0003549	HP:0001371	Flexion contracture	2	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0003549	HP:0001371	Flexion contracture	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0001371	Flexion contracture	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional		21
HP:0003549	HP:0001371	Flexion contracture	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0003549	HP:0001371	Flexion contracture	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0003549	HP:0001371	Flexion contracture	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0003549	HP:0001371	Flexion contracture	2	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003549	HP:0001371	Flexion contracture	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040281 - Very frequent		63
HP:0003549	HP:0001371	Flexion contracture	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0003549	HP:0000987	Atypical scarring of skin	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional		5
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias			5
HP:0003549	HP:0001371	Flexion contracture	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0003549	HP:0001371	Flexion contracture	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0003549	HP:0000987	Atypical scarring of skin	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003549	HP:0001371	Flexion contracture	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003549	HP:0000987	Atypical scarring of skin	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0003549	HP:0001371	Flexion contracture	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0003549	HP:0001371	Flexion contracture	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0003549	HP:0001371	Flexion contracture	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0003549	HP:0000987	Atypical scarring of skin	2	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0003549	HP:0009126	Increased adipose tissue	2	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040280 - Obligate		54
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0003549	HP:0001371	Flexion contracture	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040282 - Frequent		950
HP:0003549	HP:0001371	Flexion contracture	2	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0003549	HP:0001371	Flexion contracture	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0003549	HP:0001371	Flexion contracture	2	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0003549	HP:0001371	Flexion contracture	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0003549	HP:0002036	Hiatus hernia	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0003549	HP:0001371	Flexion contracture	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0003549	HP:0001371	Flexion contracture	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0003549	HP:0001371	Flexion contracture	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0000934	Chondrocalcinosis	2	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis	HP:0040284 - Very rare		281
HP:0003549	HP:0012490	Panniculitis	2	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0003549	HP:0012490	Panniculitis	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040283 - Occasional		281
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0003549	HP:0001371	Flexion contracture	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0001371	Flexion contracture	2	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:0003549	HP:0004299	Hernia of the abdominal wall	2	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:0003549	HP:0001371	Flexion contracture	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0003549	HP:0001371	Flexion contracture	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0003549	HP:0000934	Chondrocalcinosis	2	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		462
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0003549	HP:0000987	Atypical scarring of skin	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0003549	HP:0001371	Flexion contracture	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0001371	Flexion contracture	2	MET CL E G H	4233	7029	OMIM:620019				375
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0003549	HP:0001371	Flexion contracture	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional		203
HP:0003549	HP:0001371	Flexion contracture	2	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis			203
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0003549	HP:0001371	Flexion contracture	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0001371	Flexion contracture	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0003549	HP:0001371	Flexion contracture	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0003549	HP:0001371	Flexion contracture	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003549	HP:0000987	Atypical scarring of skin	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0003549	HP:0001371	Flexion contracture	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		6
HP:0003549	HP:0000559	Corneal scarring	2	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0003549	HP:0000987	Atypical scarring of skin	2	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0003549	HP:0001371	Flexion contracture	2	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0003549	HP:0001371	Flexion contracture	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	MMP20 CL E G H	9313	7167	OMIM:612529	Amelogenesis imperfecta, hypomaturation type, iia2	.		37
HP:0003549	HP:0001371	Flexion contracture	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0003549	HP:0001371	Flexion contracture	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0001371	Flexion contracture	2	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.		32
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003549	HP:0001371	Flexion contracture	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003549	HP:0040063	Decreased adipose tissue	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003549	HP:0000559	Corneal scarring	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0003549	HP:0001371	Flexion contracture	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0003549	HP:0001371	Flexion contracture	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0003549	HP:0001371	Flexion contracture	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia			12
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		183
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0003549	HP:0001371	Flexion contracture	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0003549	HP:0001371	Flexion contracture	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0003549	HP:0001371	Flexion contracture	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0003549	HP:0001371	Flexion contracture	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003549	HP:0009125	Lipodystrophy	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003549	HP:0001371	Flexion contracture	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional
HP:0003549	HP:0001371	Flexion contracture	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0001371	Flexion contracture	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0001371	Flexion contracture	2	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B			66
HP:0003549	HP:0001371	Flexion contracture	2	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0003549	HP:0001371	Flexion contracture	2	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4	.		66
HP:0003549	HP:0001371	Flexion contracture	2	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0003549	HP:0009125	Lipodystrophy	2	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy			1143
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			418
HP:0003549	HP:0002036	Hiatus hernia	2	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2			418
HP:0003549	HP:0001371	Flexion contracture	2	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia			105
HP:0003549	HP:0001371	Flexion contracture	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0001371	Flexion contracture	2	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3			166
HP:0003549	HP:0001371	Flexion contracture	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0001371	Flexion contracture	2	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0003549	HP:0001371	Flexion contracture	2	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B			166
HP:0003549	HP:0001371	Flexion contracture	2	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0003549	HP:0001371	Flexion contracture	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0003549	HP:0009125	Lipodystrophy	2	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy			452
HP:0003549	HP:0001371	Flexion contracture	2	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0003549	HP:0009125	Lipodystrophy	2	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy			1269
HP:0003549	HP:0001371	Flexion contracture	2	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0003549	HP:0001371	Flexion contracture	2	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7			93
HP:0003549	HP:0001371	Flexion contracture	2	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT			93
HP:0003549	HP:0001371	Flexion contracture	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0003549	HP:0001371	Flexion contracture	2	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0001371	Flexion contracture	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			326
HP:0003549	HP:0001371	Flexion contracture	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0003549	HP:0001371	Flexion contracture	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism	.		5
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional		516
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		516
HP:0003549	HP:0001371	Flexion contracture	2	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0003549	HP:0001371	Flexion contracture	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0003549	HP:0001371	Flexion contracture	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0001371	Flexion contracture	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0003549	HP:0001371	Flexion contracture	2	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0003549	HP:0001371	Flexion contracture	2	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0003549	HP:0001371	Flexion contracture	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0003549	HP:0009125	Lipodystrophy	2	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy			217
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0003549	HP:0012490	Panniculitis	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0003549	HP:0001371	Flexion contracture	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0003549	HP:0001371	Flexion contracture	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0003549	HP:0040063	Decreased adipose tissue	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0003549	HP:0001371	Flexion contracture	2	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040283 - Occasional		1
HP:0003549	HP:0001371	Flexion contracture	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0003549	HP:0001371	Flexion contracture	2	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0003549	HP:0001371	Flexion contracture	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0003549	HP:0001371	Flexion contracture	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0003549	HP:0001371	Flexion contracture	2	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY			1
HP:0003549	HP:0000559	Corneal scarring	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0003549	HP:0001371	Flexion contracture	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0003549	HP:0000987	Atypical scarring of skin	2	NCSTN CL E G H	23385	17091	OMIM:142690	Acne inversa, familial	.		5
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0003549	HP:0001371	Flexion contracture	2	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0003549	HP:0001371	Flexion contracture	2	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.		50
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent		3
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.		3
HP:0003549	HP:0001371	Flexion contracture	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0003549	HP:0001371	Flexion contracture	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0003549	HP:0001371	Flexion contracture	2	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0003549	HP:0001371	Flexion contracture	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		745
HP:0003549	HP:0001371	Flexion contracture	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0003549	HP:0001371	Flexion contracture	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0003549	HP:0001371	Flexion contracture	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040283 - Occasional		4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0003549	HP:0001371	Flexion contracture	2	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	HP:0040283 - Occasional		30
HP:0003549	HP:0001371	Flexion contracture	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0003549	HP:0001371	Flexion contracture	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	.		118
HP:0003549	HP:0000987	Atypical scarring of skin	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0003549	HP:0001371	Flexion contracture	2	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0003549	HP:0009125	Lipodystrophy	2	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy			167
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040282 - Frequent		1952
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0003549	HP:0000559	Corneal scarring	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0003549	HP:0001371	Flexion contracture	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0003549	HP:0001371	Flexion contracture	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0003549	HP:0002036	Hiatus hernia	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0003549	HP:0001371	Flexion contracture	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0003549	HP:0001371	Flexion contracture	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.		10
HP:0003549	HP:0000987	Atypical scarring of skin	2	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP			37
HP:0003549	HP:0001371	Flexion contracture	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional		217
HP:0003549	HP:0200056	Macular scar	2	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0003549	HP:0001371	Flexion contracture	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0003549	HP:0001371	Flexion contracture	2	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0001371	Flexion contracture	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0003549	HP:0001371	Flexion contracture	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		45
HP:0003549	HP:0001371	Flexion contracture	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		45
HP:0003549	HP:0001371	Flexion contracture	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0003549	HP:0001371	Flexion contracture	2	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0003549	HP:0000934	Chondrocalcinosis	2	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent		144
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0003549	HP:0001371	Flexion contracture	2	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional		13
HP:0003549	HP:0000987	Atypical scarring of skin	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0003549	HP:0001371	Flexion contracture	2	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0003549	HP:0001371	Flexion contracture	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0003549	HP:0000987	Atypical scarring of skin	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0003549	HP:0001371	Flexion contracture	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0001371	Flexion contracture	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0003549	HP:0001371	Flexion contracture	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0003549	HP:0001371	Flexion contracture	2	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003549	HP:0001371	Flexion contracture	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0003549	HP:0001371	Flexion contracture	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0003549	HP:0001371	Flexion contracture	2	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0003549	HP:0001371	Flexion contracture	2	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.		15
HP:0003549	HP:0000559	Corneal scarring	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040284 - Very rare		97
HP:0003549	HP:0000987	Atypical scarring of skin	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent		97
HP:0003549	HP:0100537	Fasciitis	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent		97
HP:0003549	HP:0000559	Corneal scarring	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.		97
HP:0003549	HP:0001371	Flexion contracture	2	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0002036	Hiatus hernia	2	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		5
HP:0003549	HP:0001371	Flexion contracture	2	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:0002036	Hiatus hernia	2	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8			1
HP:0003549	HP:0001371	Flexion contracture	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001371	Flexion contracture	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0001371	Flexion contracture	2	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0003549	HP:0001371	Flexion contracture	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0001371	Flexion contracture	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent		143
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:0001371	Flexion contracture	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0003549	HP:0000987	Atypical scarring of skin	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4			6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0003549	HP:0000987	Atypical scarring of skin	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0003549	HP:0001371	Flexion contracture	2	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0003549	HP:0001371	Flexion contracture	2	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.		19
HP:0003549	HP:0001371	Flexion contracture	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0003549	HP:0001371	Flexion contracture	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0003549	HP:0001371	Flexion contracture	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0003549	HP:0001371	Flexion contracture	2	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0003549	HP:0001371	Flexion contracture	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0003549	HP:0001371	Flexion contracture	2	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0002036	Hiatus hernia	2	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001371	Flexion contracture	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0003549	HP:0002036	Hiatus hernia	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0003549	HP:0001371	Flexion contracture	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003549	HP:0001371	Flexion contracture	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0003549	HP:0001371	Flexion contracture	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.		4
HP:0003549	HP:0009125	Lipodystrophy	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0003549	HP:0012490	Panniculitis	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent		2
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1			2
HP:0003549	HP:0001371	Flexion contracture	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome			231
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0003549	HP:0001371	Flexion contracture	2	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0003549	HP:0001371	Flexion contracture	2	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0003549	HP:0001371	Flexion contracture	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0003549	HP:0001371	Flexion contracture	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia			58
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	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:0003549	HP:0000987	Atypical scarring of skin	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional		352
HP:0003549	HP:0001371	Flexion contracture	2	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	HP:0040283 - Occasional		1
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		531
HP:0003549	HP:0009126	Increased adipose tissue	2	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040280 - Obligate		65
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0003549	HP:0000987	Atypical scarring of skin	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0003549	HP:0000987	Atypical scarring of skin	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0003549	HP:0000987	Atypical scarring of skin	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0003549	HP:0000934	Chondrocalcinosis	2	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent		28
HP:0003549	HP:0009125	Lipodystrophy	2	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0003549	HP:0001371	Flexion contracture	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		88
HP:0003549	HP:0001371	Flexion contracture	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0001371	Flexion contracture	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		40
HP:0003549	HP:0001371	Flexion contracture	2	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0003549	HP:0001371	Flexion contracture	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1			169
HP:0003549	HP:0001371	Flexion contracture	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0003549	HP:0001371	Flexion contracture	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0003549	HP:0001371	Flexion contracture	2	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0003549	HP:0001371	Flexion contracture	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0003549	HP:0001371	Flexion contracture	2	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0003549	HP:0001371	Flexion contracture	2	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0003549	HP:0100686	Enthesitis	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040283 - Occasional		217
HP:0003549	HP:0001371	Flexion contracture	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0003549	HP:0001371	Flexion contracture	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0003549	HP:0001371	Flexion contracture	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		11
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0003549	HP:0001371	Flexion contracture	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0003549	HP:0001371	Flexion contracture	2	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0003549	HP:0001371	Flexion contracture	2	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0003549	HP:0001371	Flexion contracture	2	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0001371	Flexion contracture	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0001371	Flexion contracture	2	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.	HP:0003577 - Congenital onset	77
HP:0003549	HP:0001371	Flexion contracture	2	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0001371	Flexion contracture	2	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0003549	HP:0001371	Flexion contracture	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0001371	Flexion contracture	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0003549	HP:0001371	Flexion contracture	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0003549	HP:0001371	Flexion contracture	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0003549	HP:0001371	Flexion contracture	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent		37
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0003549	HP:0001371	Flexion contracture	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	HP:0040283 - Occasional		37
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0003549	HP:0001371	Flexion contracture	2	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0003549	HP:0001371	Flexion contracture	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003549	HP:0001371	Flexion contracture	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0003549	HP:0001371	Flexion contracture	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0003549	HP:0009125	Lipodystrophy	2	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0003549	HP:0001371	Flexion contracture	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome			9
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent		43
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0003549	HP:0009125	Lipodystrophy	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent		43
HP:0003549	HP:0009125	Lipodystrophy	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0003549	HP:0001371	Flexion contracture	2	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0003549	HP:0001371	Flexion contracture	2	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3			1
HP:0003549	HP:0001371	Flexion contracture	2	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly			8
HP:0003549	HP:0001371	Flexion contracture	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0003549	HP:0001371	Flexion contracture	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0003549	HP:0001371	Flexion contracture	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0003549	HP:0001371	Flexion contracture	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040282 - Frequent		759
HP:0003549	HP:0000987	Atypical scarring of skin	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0003549	HP:0000987	Atypical scarring of skin	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0003549	HP:0001371	Flexion contracture	2	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.		759
HP:0003549	HP:0001371	Flexion contracture	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0003549	HP:0000987	Atypical scarring of skin	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0003549	HP:0001371	Flexion contracture	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0003549	HP:0001371	Flexion contracture	2	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.	HP:0003584 - Late onset	759
HP:0003549	HP:0001371	Flexion contracture	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0003549	HP:0001371	Flexion contracture	2	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0003549	HP:0009125	Lipodystrophy	2	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0003549	HP:0040063	Decreased adipose tissue	2	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0003549	HP:0009125	Lipodystrophy	2	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		11
HP:0003549	HP:0009125	Lipodystrophy	2	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy			57
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0003549	HP:0000987	Atypical scarring of skin	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent		105
HP:0003549	HP:0001371	Flexion contracture	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003549	HP:0001371	Flexion contracture	2	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0003549	HP:0001371	Flexion contracture	2	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.		45
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0003549	HP:0001371	Flexion contracture	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0001371	Flexion contracture	2	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.		60
HP:0003549	HP:0001371	Flexion contracture	2	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0003549	HP:0001371	Flexion contracture	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0003549	HP:0001371	Flexion contracture	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0003549	HP:0009125	Lipodystrophy	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0003549	HP:0001371	Flexion contracture	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0003549	HP:0001371	Flexion contracture	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0003549	HP:0001371	Flexion contracture	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0003549	HP:0001371	Flexion contracture	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0003549	HP:0000559	Corneal scarring	2	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0003549	HP:0001371	Flexion contracture	2	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0003549	HP:0009125	Lipodystrophy	2	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0003549	HP:0000291	Abnormality of facial adipose tissue	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0001371	Flexion contracture	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0001371	Flexion contracture	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional		138
HP:0003549	HP:0040063	Decreased adipose tissue	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0040063	Decreased adipose tissue	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0009125	Lipodystrophy	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0009125	Lipodystrophy	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0009126	Increased adipose tissue	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0001371	Flexion contracture	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0009126	Increased adipose tissue	2	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040280 - Obligate		27
HP:0003549	HP:0000987	Atypical scarring of skin	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0003549	HP:0001371	Flexion contracture	2	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0003549	HP:0009125	Lipodystrophy	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0003549	HP:0001371	Flexion contracture	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0003549	HP:0001371	Flexion contracture	2	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0003549	HP:0001371	Flexion contracture	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0003549	HP:0001371	Flexion contracture	2	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.		213
HP:0003549	HP:0001371	Flexion contracture	2	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.		213
HP:0003549	HP:0001371	Flexion contracture	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0003549	HP:0001371	Flexion contracture	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0003549	HP:0001371	Flexion contracture	2	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0003549	HP:0001371	Flexion contracture	2	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0003549	HP:0001371	Flexion contracture	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.		6
HP:0003549	HP:0001371	Flexion contracture	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0003549	HP:0001371	Flexion contracture	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		76
HP:0003549	HP:0001371	Flexion contracture	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional		20
HP:0003549	HP:0001371	Flexion contracture	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:0002036	Hiatus hernia	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0003549	HP:0040063	Decreased adipose tissue	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0003549	HP:0009125	Lipodystrophy	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		42
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0003549	HP:0040063	Decreased adipose tissue	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0003549	HP:0009125	Lipodystrophy	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0003549	HP:0000291	Abnormality of facial adipose tissue	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0003549	HP:0040063	Decreased adipose tissue	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0003549	HP:0009125	Lipodystrophy	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0003549	HP:0009125	Lipodystrophy	2	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX	.		39
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0003549	HP:0001371	Flexion contracture	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0003549	HP:0001371	Flexion contracture	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0001371	Flexion contracture	2	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development			2
HP:0003549	HP:0001371	Flexion contracture	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0003549	HP:0001371	Flexion contracture	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0003549	HP:0000987	Atypical scarring of skin	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0003549	HP:0000559	Corneal scarring	2	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII	.		6
HP:0003549	HP:0001371	Flexion contracture	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0003549	HP:0009125	Lipodystrophy	2	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy			148
HP:0003549	HP:0000559	Corneal scarring	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		58
HP:0003549	HP:0001371	Flexion contracture	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2			58
HP:0003549	HP:0001371	Flexion contracture	2	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0001371	Flexion contracture	2	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0040063	Decreased adipose tissue	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0003549	HP:0012490	Panniculitis	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		10
HP:0003549	HP:0001371	Flexion contracture	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003549	HP:0001371	Flexion contracture	2	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0003549	HP:0001371	Flexion contracture	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003549	HP:0000987	Atypical scarring of skin	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0003549	HP:0000987	Atypical scarring of skin	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0003549	HP:0000987	Atypical scarring of skin	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0003549	HP:0000987	Atypical scarring of skin	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0003549	HP:0000987	Atypical scarring of skin	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0003549	HP:0000987	Atypical scarring of skin	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0003549	HP:0000987	Atypical scarring of skin	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0003549	HP:0001371	Flexion contracture	2	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0003549	HP:0009125	Lipodystrophy	2	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy			241
HP:0003549	HP:0009125	Lipodystrophy	2	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy			59
HP:0003549	HP:0001371	Flexion contracture	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0003549	HP:0009125	Lipodystrophy	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0003549	HP:0012490	Panniculitis	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0003549	HP:0000291	Abnormality of facial adipose tissue	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0001371	Flexion contracture	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0040063	Decreased adipose tissue	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0009125	Lipodystrophy	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0012490	Panniculitis	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0001371	Flexion contracture	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0003549	HP:0009125	Lipodystrophy	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0003549	HP:0012490	Panniculitis	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0003549	HP:0001371	Flexion contracture	2	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0003549	HP:0009125	Lipodystrophy	2	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0003549	HP:0012490	Panniculitis	2	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0003549	HP:0001371	Flexion contracture	2	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0003549	HP:0001371	Flexion contracture	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0003549	HP:0001371	Flexion contracture	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		665
HP:0003549	HP:0001371	Flexion contracture	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		665
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0003549	HP:0001371	Flexion contracture	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0003549	HP:0001371	Flexion contracture	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0003549	HP:0009721	Shagreen patch	2	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040282 - Frequent		948
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0003549	HP:0001371	Flexion contracture	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0003549	HP:0040063	Decreased adipose tissue	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0003549	HP:0001371	Flexion contracture	2	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0003549	HP:0001371	Flexion contracture	2	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0003549	HP:0100686	Enthesitis	2	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0003549	HP:0001371	Flexion contracture	2	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0003549	HP:0100686	Enthesitis	2	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		3
HP:0003549	HP:0001371	Flexion contracture	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0003549	HP:0001371	Flexion contracture	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0003549	HP:0001371	Flexion contracture	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003549	HP:0001371	Flexion contracture	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0003549	HP:0001371	Flexion contracture	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0001371	Flexion contracture	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0003549	HP:0001371	Flexion contracture	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0003549	HP:0001371	Flexion contracture	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0003549	HP:0001371	Flexion contracture	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0003549	HP:0009125	Lipodystrophy	2	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy			212
HP:0003549	HP:0001371	Flexion contracture	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0001371	Flexion contracture	2	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0003549	HP:0001371	Flexion contracture	2	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	.		73
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040282 - Frequent		9
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	.		9
HP:0003549	HP:0001371	Flexion contracture	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0003549	HP:0012490	Panniculitis	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		68
HP:0003549	HP:0009125	Lipodystrophy	2	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy			363
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0003549	HP:0001371	Flexion contracture	2	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0003549	HP:0040063	Decreased adipose tissue	2	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0003549	HP:0001371	Flexion contracture	2	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0003549	HP:0009125	Lipodystrophy	2	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0003549	HP:0000987	Atypical scarring of skin	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0003549	HP:0000987	Atypical scarring of skin	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional		445
HP:0003549	HP:0001371	Flexion contracture	2	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0003549	HP:0000987	Atypical scarring of skin	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0003549	HP:0001371	Flexion contracture	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0003549	HP:0001371	Flexion contracture	2	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0003549	HP:0001371	Flexion contracture	2	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0003549	HP:0001371	Flexion contracture	2	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0003549	HP:0000987	Atypical scarring of skin	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0003549	HP:0000987	Atypical scarring of skin	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0003549	HP:0000987	Atypical scarring of skin	2	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0003549	HP:0001371	Flexion contracture	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0003549	HP:0001371	Flexion contracture	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		3
HP:0003549	HP:0001371	Flexion contracture	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0000987	Atypical scarring of skin	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	HP:0040284 - Very rare		7
HP:0003549	HP:0001371	Flexion contracture	2	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003549	HP:0001371	Flexion contracture	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0003549	HP:0009125	Lipodystrophy	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0003549	HP:0012490	Panniculitis	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0003549	HP:0001371	Flexion contracture	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0003549	HP:0009125	Lipodystrophy	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0003549	HP:0012490	Panniculitis	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0003549	HP:0001371	Flexion contracture	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0003549	HP:0009125	Lipodystrophy	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0003549	HP:0012490	Panniculitis	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0001371	Flexion contracture	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0040063	Decreased adipose tissue	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0001371	Flexion contracture	2	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0003549	HP:0001371	Flexion contracture	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0003549	HP:0001371	Flexion contracture	2	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0003549	HP:0001371	Flexion contracture	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0003549	HP:0001371	Flexion contracture	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0003549	HP:0001371	Flexion contracture	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0003549	HP:0001371	Flexion contracture	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0003549	HP:0009125	Lipodystrophy	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0003549	HP:0012490	Panniculitis	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		57
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome			57
HP:0003549	HP:0000987	Atypical scarring of skin	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0003549	HP:0001371	Flexion contracture	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0001371	Flexion contracture	2	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0003549	HP:0000987	Atypical scarring of skin	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0003549	HP:0000987	Atypical scarring of skin	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0003549	HP:0000987	Atypical scarring of skin	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0003549	HP:0000987	Atypical scarring of skin	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0003549	HP:0000987	Atypical scarring of skin	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0003549	HP:0000987	Atypical scarring of skin	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0003549	HP:0001371	Flexion contracture	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0001371	Flexion contracture	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003549	HP:0001371	Flexion contracture	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0003549	HP:0001371	Flexion contracture	2	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0003549	HP:0100823	Genital hernia	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0003549	HP:0001371	Flexion contracture	2	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0003549	HP:0001371	Flexion contracture	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0003549	HP:0001371	Flexion contracture	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003549	HP:0001371	Flexion contracture	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0001371	Flexion contracture	2	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent		90
HP:0003549	HP:0001371	Flexion contracture	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0003549	HP:0001371	Flexion contracture	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0003549	HP:0001371	Flexion contracture	2	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0003549	HP:0001371	Flexion contracture	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0003549	HP:0001371	Flexion contracture	2	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0003549	HP:0001371	Flexion contracture	2	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0003549	HP:0000987	Atypical scarring of skin	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0003549	HP:0001371	Flexion contracture	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0003549	HP:0001371	Flexion contracture	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0003549	HP:0009125	Lipodystrophy	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0003549	HP:0012490	Panniculitis	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0003549	HP:0001371	Flexion contracture	2	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.		55
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0003549	HP:0001371	Flexion contracture	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0003549	HP:0000987	Atypical scarring of skin	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0003549	HP:0001371	Flexion contracture	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0003549	HP:0001371	Flexion contracture	2	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional		263
HP:0003549	HP:0001371	Flexion contracture	2	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional		1134
HP:0003549	HP:0009125	Lipodystrophy	2	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy			1134
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0003549	HP:0001371	Flexion contracture	2	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0003549	HP:0001371	Flexion contracture	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040280 - Obligate
HP:0003549	HP:0009125	Lipodystrophy	2	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy			304
HP:0003549	HP:0001371	Flexion contracture	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0003549	HP:0001371	Flexion contracture	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0003549	HP:0001371	Flexion contracture	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0003549	HP:0001371	Flexion contracture	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0003549	HP:0001371	Flexion contracture	2	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0003549	HP:0001371	Flexion contracture	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent		5
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0003549	HP:0001371	Flexion contracture	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0003549	HP:0001371	Flexion contracture	2	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0003549	HP:0001371	Flexion contracture	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0003549	HP:0001371	Flexion contracture	2	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0003549	HP:0001371	Flexion contracture	2	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0003549	HP:0001371	Flexion contracture	2	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0003549	HP:0001371	Flexion contracture	2	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0003549	HP:0000987	Atypical scarring of skin	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0003549	HP:0001371	Flexion contracture	2	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0003549	HP:0001371	Flexion contracture	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0003549	HP:0001371	Flexion contracture	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0003549	HP:0001371	Flexion contracture	2	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3			132
HP:0003549	HP:0001371	Flexion contracture	2	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.		132
HP:0003549	HP:0009125	Lipodystrophy	2	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy			223
HP:0003549	HP:0001371	Flexion contracture	2	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0003549	HP:0001371	Flexion contracture	2	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.		83
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040284 - Very rare
HP:0003549	HP:0200056	Macular scar	2	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0003549	HP:0001371	Flexion contracture	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0003549	HP:0001371	Flexion contracture	2	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0003549	HP:0001371	Flexion contracture	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0003549	HP:0001371	Flexion contracture	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		67
HP:0003549	HP:0001371	Flexion contracture	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		67
HP:0003549	HP:0001371	Flexion contracture	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0003549	HP:0001371	Flexion contracture	2	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0003549	HP:0001371	Flexion contracture	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040280 - Obligate		2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0003549	HP:0001371	Flexion contracture	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0003549	HP:0001371	Flexion contracture	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003549	HP:0001371	Flexion contracture	2	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0001371	Flexion contracture	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0001371	Flexion contracture	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0003549	HP:0001371	Flexion contracture	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		32
HP:0003549	HP:0001371	Flexion contracture	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0003549	HP:0001371	Flexion contracture	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0003549	HP:0001371	Flexion contracture	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0001371	Flexion contracture	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0040063	Decreased adipose tissue	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0001371	Flexion contracture	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003549	HP:0001371	Flexion contracture	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003549	HP:0000934	Chondrocalcinosis	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0003549	HP:0000934	Chondrocalcinosis	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0003549	HP:0000934	Chondrocalcinosis	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0003549	HP:0001371	Flexion contracture	2	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0003549	HP:0001371	Flexion contracture	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		73
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta			73
HP:0003549	HP:0001371	Flexion contracture	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0003549	HP:0001371	Flexion contracture	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0003549	HP:0001371	Flexion contracture	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0001371	Flexion contracture	2	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic			2
HP:0003549	HP:0001371	Flexion contracture	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0003549	HP:0001371	Flexion contracture	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0003549	HP:0001371	Flexion contracture	2	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0003549	HP:0001371	Flexion contracture	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SLC24A4 CL E G H	123041	10978	OMIM:615887	Amelogenesis imperfecta, hypomaturation type, iia5			4
HP:0003549	HP:0001371	Flexion contracture	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0003549	HP:0001371	Flexion contracture	2	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.		36
HP:0003549	HP:0001371	Flexion contracture	2	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)			36
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003549	HP:0040063	Decreased adipose tissue	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0003549	HP:0040063	Decreased adipose tissue	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0003549	HP:0009125	Lipodystrophy	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0003549	HP:0009721	Shagreen patch	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0003549	HP:0001371	Flexion contracture	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0003549	HP:0001371	Flexion contracture	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.		14
HP:0003549	HP:0001371	Flexion contracture	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0003549	HP:0001371	Flexion contracture	2	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0003549	HP:0001371	Flexion contracture	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0003549	HP:0001371	Flexion contracture	2	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0003549	HP:0001371	Flexion contracture	2	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003549	HP:0001371	Flexion contracture	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent		166
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0003549	HP:0001371	Flexion contracture	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0003549	HP:0009125	Lipodystrophy	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0003549	HP:0001371	Flexion contracture	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.		178
HP:0003549	HP:0001371	Flexion contracture	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.		178
HP:0003549	HP:0002036	Hiatus hernia	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0003549	HP:0002036	Hiatus hernia	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.		178
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome			178
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0003549	HP:0040063	Decreased adipose tissue	2	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0003549	HP:0001371	Flexion contracture	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003549	HP:0001371	Flexion contracture	2	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0003549	HP:0000987	Atypical scarring of skin	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0001371	Flexion contracture	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0001371	Flexion contracture	2	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		24
HP:0003549	HP:0001371	Flexion contracture	2	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0003549	HP:0001371	Flexion contracture	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.		5
HP:0003549	HP:0001371	Flexion contracture	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1			59
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0003549	HP:0001371	Flexion contracture	2	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0003549	HP:0001371	Flexion contracture	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0003549	HP:0002036	Hiatus hernia	2	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		81
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia			81
HP:0003549	HP:0002036	Hiatus hernia	2	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0003549	HP:0001371	Flexion contracture	2	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0003549	HP:0000987	Atypical scarring of skin	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0003549	HP:0001371	Flexion contracture	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0003549	HP:0001371	Flexion contracture	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0003549	HP:0001371	Flexion contracture	2	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda			15
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0003549	HP:0000987	Atypical scarring of skin	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent		260
HP:0003549	HP:0001371	Flexion contracture	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0100823	Genital hernia	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0003549	HP:0000987	Atypical scarring of skin	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0001371	Flexion contracture	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0100823	Genital hernia	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0003549	HP:0001371	Flexion contracture	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0003549	HP:0001371	Flexion contracture	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0003549	HP:0001371	Flexion contracture	2	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0003549	HP:0001371	Flexion contracture	2	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome			6
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0001371	Flexion contracture	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0001371	Flexion contracture	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		135
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			174
HP:0003549	HP:0001371	Flexion contracture	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0001371	Flexion contracture	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0001371	Flexion contracture	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth			4
HP:0003549	HP:0001371	Flexion contracture	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0003549	HP:0001371	Flexion contracture	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0003549	HP:0001371	Flexion contracture	2	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	.		2
HP:0003549	HP:0001371	Flexion contracture	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0003549	HP:0000987	Atypical scarring of skin	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0003549	HP:0001371	Flexion contracture	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0003549	HP:0001371	Flexion contracture	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0003549	HP:0001371	Flexion contracture	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0003549	HP:0001371	Flexion contracture	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0003549	HP:0001371	Flexion contracture	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0003549	HP:0001371	Flexion contracture	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0003549	HP:0040063	Decreased adipose tissue	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0003549	HP:0001371	Flexion contracture	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SP6 CL E G H	80320	14530	OMIM:620104
HP:0003549	HP:0001371	Flexion contracture	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0003549	HP:0000987	Atypical scarring of skin	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0003549	HP:0001371	Flexion contracture	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0003549	HP:0001371	Flexion contracture	2	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0003549	HP:0001371	Flexion contracture	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0003549	HP:0001371	Flexion contracture	2	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0003549	HP:0001371	Flexion contracture	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0003549	HP:0001371	Flexion contracture	2	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0003549	HP:0009125	Lipodystrophy	2	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.		3
HP:0003549	HP:0001371	Flexion contracture	2	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0003549	HP:0001371	Flexion contracture	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0003549	HP:0001371	Flexion contracture	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0003549	HP:0001371	Flexion contracture	2	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0003549	HP:0001371	Flexion contracture	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		50
HP:0003549	HP:0001371	Flexion contracture	2	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0003549	HP:0001371	Flexion contracture	2	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0003549	HP:0001371	Flexion contracture	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	HP:0040284 - Very rare		1
HP:0003549	HP:0001371	Flexion contracture	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0003549	HP:0001371	Flexion contracture	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0003549	HP:0001371	Flexion contracture	2	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0003549	HP:0100686	Enthesitis	2	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		2
HP:0003549	HP:0001371	Flexion contracture	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0003549	HP:0001371	Flexion contracture	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		99
HP:0003549	HP:0001371	Flexion contracture	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		99
HP:0003549	HP:0001371	Flexion contracture	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0003549	HP:0001371	Flexion contracture	2	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	HP:0040283 - Occasional		31
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040282 - Frequent		71
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0003549	HP:0001371	Flexion contracture	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia			8
HP:0003549	HP:0001371	Flexion contracture	2	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0003549	HP:0001371	Flexion contracture	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0001371	Flexion contracture	2	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0001371	Flexion contracture	2	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0003549	HP:0001371	Flexion contracture	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0003549	HP:0009125	Lipodystrophy	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		1129
HP:0003549	HP:0001371	Flexion contracture	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0003549	HP:0001371	Flexion contracture	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0003549	HP:0009125	Lipodystrophy	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		508
HP:0003549	HP:0001371	Flexion contracture	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0003549	HP:0001371	Flexion contracture	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0003549	HP:0001371	Flexion contracture	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0003549	HP:0001371	Flexion contracture	2	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003549	HP:0001371	Flexion contracture	2	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003549	HP:0200013	Neoplasm of fatty tissue	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:0003549	HP:0009125	Lipodystrophy	2	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0009125	Lipodystrophy	2	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0003549	HP:0001371	Flexion contracture	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0001371	Flexion contracture	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0040063	Decreased adipose tissue	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0003549	HP:0001371	Flexion contracture	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0003549	HP:0001371	Flexion contracture	2	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0001371	Flexion contracture	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0003549	HP:0001371	Flexion contracture	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040282 - Frequent		52
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0003549	HP:0001371	Flexion contracture	2	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0003549	HP:0001371	Flexion contracture	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0003549	HP:0001371	Flexion contracture	2	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0003549	HP:0001371	Flexion contracture	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0003549	HP:0001371	Flexion contracture	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional		100
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0003549	HP:0001371	Flexion contracture	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0003549	HP:0009125	Lipodystrophy	2	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy			78
HP:0003549	HP:0002036	Hiatus hernia	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		140
HP:0003549	HP:0001371	Flexion contracture	2	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0003549	HP:0001371	Flexion contracture	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0003549	HP:0001371	Flexion contracture	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0003549	HP:0001371	Flexion contracture	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		1
HP:0003549	HP:0001371	Flexion contracture	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		1
HP:0003549	HP:0001371	Flexion contracture	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0003549	HP:0001371	Flexion contracture	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0003549	HP:0000987	Atypical scarring of skin	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent		12
HP:0003549	HP:0000987	Atypical scarring of skin	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0003549	HP:0001371	Flexion contracture	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0003549	HP:0001371	Flexion contracture	2	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0003549	HP:0001371	Flexion contracture	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003549	HP:0040063	Decreased adipose tissue	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0001371	Flexion contracture	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0002036	Hiatus hernia	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0040063	Decreased adipose tissue	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0000559	Corneal scarring	2	TGFBI CL E G H	7045	11771	OMIM:602082	Corneal dystrophy of bowman layer, type II	.		58
HP:0003549	HP:0000559	Corneal scarring	2	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040281 - Very frequent		58
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0003549	HP:0000987	Atypical scarring of skin	2	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		239
HP:0003549	HP:0001371	Flexion contracture	2	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0001371	Flexion contracture	2	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0003549	HP:0000987	Atypical scarring of skin	2	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		253
HP:0003549	HP:0001371	Flexion contracture	2	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0001371	Flexion contracture	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003549	HP:0001371	Flexion contracture	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0003549	HP:0001371	Flexion contracture	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0003549	HP:0001371	Flexion contracture	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		32
HP:0003549	HP:0001371	Flexion contracture	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0003549	HP:0001371	Flexion contracture	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0003549	HP:0001371	Flexion contracture	2	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis			98
HP:0003549	HP:0001371	Flexion contracture	2	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	HP:0040283 - Occasional		98
HP:0003549	HP:0001371	Flexion contracture	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0003549	HP:0001371	Flexion contracture	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0003549	HP:0001371	Flexion contracture	2	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.		4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0003549	HP:0001371	Flexion contracture	2	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0003549	HP:0001371	Flexion contracture	2	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0003549	HP:0001371	Flexion contracture	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0003549	HP:0009125	Lipodystrophy	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		171
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0003549	HP:0001371	Flexion contracture	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0003549	HP:0009125	Lipodystrophy	2	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy			136
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0003549	HP:0000934	Chondrocalcinosis	2	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040283 - Occasional		44
HP:0003549	HP:0200056	Macular scar	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	HP:0040283 - Occasional		44
HP:0003549	HP:0000934	Chondrocalcinosis	2	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis	HP:0040284 - Very rare		131
HP:0003549	HP:0100537	Fasciitis	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0003549	HP:0009125	Lipodystrophy	2	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy			73
HP:0003549	HP:0001371	Flexion contracture	2	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0001371	Flexion contracture	2	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0003549	HP:0009125	Lipodystrophy	2	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy			180
HP:0003549	HP:0001371	Flexion contracture	2	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0003549	HP:0001371	Flexion contracture	2	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0003549	HP:0009125	Lipodystrophy	2	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0003549	HP:0001371	Flexion contracture	2	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2			43
HP:0003549	HP:0001371	Flexion contracture	2	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0003549	HP:0001371	Flexion contracture	2	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	HP:0040283 - Occasional		71
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0003549	HP:0002036	Hiatus hernia	2	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.		134
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0003549	HP:0040063	Decreased adipose tissue	2	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0003549	HP:0000987	Atypical scarring of skin	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0003549	HP:0001371	Flexion contracture	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0001371	Flexion contracture	2	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0003549	HP:0001371	Flexion contracture	2	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y	.		10
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0003549	HP:0001371	Flexion contracture	2	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0002036	Hiatus hernia	2	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy			140
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent		140
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0003549	HP:0001371	Flexion contracture	2	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome			140
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0003549	HP:0009125	Lipodystrophy	2	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy			230
HP:0003549	HP:0001371	Flexion contracture	2	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0003549	HP:0001371	Flexion contracture	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0003549	HP:0001371	Flexion contracture	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0003549	HP:0001371	Flexion contracture	2	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0003549	HP:0001371	Flexion contracture	2	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0003549	HP:0001371	Flexion contracture	2	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0003549	HP:0001371	Flexion contracture	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0003549	HP:0001371	Flexion contracture	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0003549	HP:0001371	Flexion contracture	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0003549	HP:0001371	Flexion contracture	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		108
HP:0003549	HP:0001371	Flexion contracture	2	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0003549	HP:0001371	Flexion contracture	2	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.		108
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0003549	HP:0001371	Flexion contracture	2	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0002036	Hiatus hernia	2	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent		2
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.		2
HP:0003549	HP:0001371	Flexion contracture	2	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	HP:0040284 - Very rare
HP:0003549	HP:0001371	Flexion contracture	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0003549	HP:0009125	Lipodystrophy	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0003549	HP:0012490	Panniculitis	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0003549	HP:0001371	Flexion contracture	2	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040281 - Very frequent		133
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0003549	HP:0001371	Flexion contracture	2	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0003549	HP:0001371	Flexion contracture	2	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0003549	HP:0001371	Flexion contracture	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0003549	HP:0001371	Flexion contracture	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0003549	HP:0009126	Increased adipose tissue	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0003549	HP:0001371	Flexion contracture	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0003549	HP:0001371	Flexion contracture	2	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	.		151
HP:0003549	HP:0001371	Flexion contracture	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	HP:0040283 - Occasional		214
HP:0003549	HP:0001371	Flexion contracture	2	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003549	HP:0001371	Flexion contracture	2	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism	.		214
HP:0003549	HP:0001371	Flexion contracture	2	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0003549	HP:0001371	Flexion contracture	2	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003549	HP:0001371	Flexion contracture	2	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0003549	HP:0009721	Shagreen patch	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		1090
HP:0003549	HP:0009721	Shagreen patch	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0003549	HP:0009721	Shagreen patch	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0003549	HP:0009721	Shagreen patch	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		2738
HP:0003549	HP:0009721	Shagreen patch	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0003549	HP:0009721	Shagreen patch	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0003549	HP:0001371	Flexion contracture	2	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0003549	HP:0001371	Flexion contracture	2	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0003549	HP:0000987	Atypical scarring of skin	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0003549	HP:0001371	Flexion contracture	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0003549	HP:0001371	Flexion contracture	2	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0003549	HP:0009125	Lipodystrophy	2	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy			7128
HP:0003549	HP:0001371	Flexion contracture	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0003549	HP:0001371	Flexion contracture	2	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.		7128
HP:0003549	HP:0000987	Atypical scarring of skin	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0003549	HP:0001371	Flexion contracture	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0003549	HP:0001371	Flexion contracture	2	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0003549	HP:0000987	Atypical scarring of skin	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0003549	HP:0001371	Flexion contracture	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0001371	Flexion contracture	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0003549	HP:0009125	Lipodystrophy	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0003549	HP:0009125	Lipodystrophy	2	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy			85
HP:0003549	HP:0001371	Flexion contracture	2	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003549	HP:0001371	Flexion contracture	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0003549	HP:0001371	Flexion contracture	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0001371	Flexion contracture	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0003549	HP:0001371	Flexion contracture	2	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0003549	HP:0001371	Flexion contracture	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0003549	HP:0001371	Flexion contracture	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0003549	HP:0001371	Flexion contracture	2	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0003549	HP:0000987	Atypical scarring of skin	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0003549	HP:0000987	Atypical scarring of skin	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0003549	HP:0000559	Corneal scarring	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0003549	HP:0000987	Atypical scarring of skin	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0003549	HP:0001371	Flexion contracture	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional		173
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional		78
HP:0003549	HP:0000987	Atypical scarring of skin	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		777
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0003549	HP:0001371	Flexion contracture	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0003549	HP:0001371	Flexion contracture	2	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.		2
HP:0003549	HP:0001371	Flexion contracture	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to			111
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele			111
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		2
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to			2
HP:0003549	HP:0001371	Flexion contracture	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0003549	HP:0009125	Lipodystrophy	2	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0003549	HP:0001371	Flexion contracture	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0003549	HP:0001371	Flexion contracture	2	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	HP:0040283 - Occasional		10
HP:0003549	HP:0001371	Flexion contracture	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0003549	HP:0001371	Flexion contracture	2	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0003549	HP:0001371	Flexion contracture	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040281 - Very frequent		1
HP:0003549	HP:0001371	Flexion contracture	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0003549	HP:0001371	Flexion contracture	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0003549	HP:0009125	Lipodystrophy	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0003549	HP:0001371	Flexion contracture	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0003549	HP:0001371	Flexion contracture	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0003549	HP:0001371	Flexion contracture	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0003549	HP:0001371	Flexion contracture	2	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0003549	HP:0001371	Flexion contracture	2	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		95
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0003549	HP:0001371	Flexion contracture	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		136
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0003549	HP:0001371	Flexion contracture	2	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0002036	Hiatus hernia	2	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001371	Flexion contracture	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3			137
HP:0003549	HP:0001371	Flexion contracture	2	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0002036	Hiatus hernia	2	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		14
HP:0003549	HP:0001371	Flexion contracture	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0003549	HP:0002036	Hiatus hernia	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		155
HP:0003549	HP:0001371	Flexion contracture	2	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia			71
HP:0003549	HP:0000682	Abnormal dental enamel morphology	2	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia			4
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.		4
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040282 - Frequent		4
HP:0003549	HP:0001371	Flexion contracture	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0003549	HP:0001371	Flexion contracture	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0003549	HP:0000934	Chondrocalcinosis	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent		310
HP:0003549	HP:0009125	Lipodystrophy	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent		310
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.		177
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040281 - Very frequent		177
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0003549	HP:0001371	Flexion contracture	2	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome			14
HP:0003549	HP:0001371	Flexion contracture	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0003549	HP:0001371	Flexion contracture	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0003549	HP:0001371	Flexion contracture	2	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0003549	HP:0001371	Flexion contracture	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0003549	HP:0001371	Flexion contracture	2	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6			1
HP:0003549	HP:0002036	Hiatus hernia	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0003549	HP:0001371	Flexion contracture	2	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0003549	HP:0001371	Flexion contracture	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0003549	HP:0001371	Flexion contracture	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0003549	HP:0001371	Flexion contracture	2	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0003549	HP:0001371	Flexion contracture	2	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3			8
HP:0003549	HP:0001371	Flexion contracture	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0003549	HP:0001371	Flexion contracture	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040281 - Very frequent		31
HP:0003549	HP:0000776	Congenital diaphragmatic hernia	2	ZFPM2 CL E G H	23414	16700	OMIM:610187	DIAPHRAGMATIC HERNIA 3; DIH3			31
HP:0003549	HP:0001371	Flexion contracture	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0003549	HP:0001371	Flexion contracture	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		34
HP:0003549	HP:0001371	Flexion contracture	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		34
HP:0003549	HP:0001371	Flexion contracture	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0003549	HP:0004299	Hernia of the abdominal wall	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0003549	HP:0040063	Decreased adipose tissue	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0003549	HP:0000291	Abnormality of facial adipose tissue	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003549	HP:0001001	Abnormality of subcutaneous fat tissue	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003549	HP:0001371	Flexion contracture	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0003549	HP:0040063	Decreased adipose tissue	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003549	HP:0009125	Lipodystrophy	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003549	HP:0009125	Lipodystrophy	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003549	HP:0001371	Flexion contracture	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0001371	Flexion contracture	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0003549	HP:0001371	Flexion contracture	2	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0003549	HP:0001371	Flexion contracture	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0000987	Atypical scarring of skin	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0003549	HP:0000559	Corneal scarring	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		397
HP:0003549	HP:0000703	Dentinogenesis imperfecta	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0003549	HP:0000987	Atypical scarring of skin	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0003549	HP:0001371	Flexion contracture	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0003549	HP:0000987	Atypical scarring of skin	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0003549	HP:0002036	Hiatus hernia	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0003549	HP:0001371	Flexion contracture	2	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0001371	Flexion contracture	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0003549	HP:0200013	Neoplasm of fatty tissue	2	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0003549	HP:0011086	Dentinogenesis imperfecta of primary and permanent teeth	3	CL E G H
HP:0003549	HP:0025094	Disciform macular scar	3	CL E G H
HP:0003549	HP:0025193	Posterolateral diaphragmatic hernia	3	CL E G H
HP:0003549	HP:0025385	Diet-resistant subcutaneous adipose tissue below waist	3	CL E G H
HP:0003549	HP:0033333	Jaw contracture	3	CL E G H
HP:0003549	HP:0033776	Enamel pearls	3	CL E G H
HP:0003549	HP:0033786	Hypomature enamel	3	CL E G H
HP:0003549	HP:0033787	Cementum hypoplasia	3	CL E G H
HP:0003549	HP:0033788	Cementum overgrowth	3	CL E G H
HP:0003549	HP:0045029	Eosinophilic fasciitis	3	CL E G H
HP:0003549	HP:0100695	Lipedema	3	CL E G H
HP:0003549	HP:0012031	Lipomatous tumor	3	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0003549	HP:0002803	Congenital contracture	3	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0003549	HP:0003121	Limb joint contracture	3	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0003549	HP:0001537	Umbilical hernia	3	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0003549	HP:0100578	Lipoatrophy	3	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		254
HP:0003549	HP:0001537	Umbilical hernia	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0003549	HP:0001537	Umbilical hernia	3	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		254
HP:0003549	HP:0003121	Limb joint contracture	3	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0003549	HP:0003121	Limb joint contracture	3	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0003549	HP:0000023	Inguinal hernia	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.		53
HP:0003549	HP:0003121	Limb joint contracture	3	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0003549	HP:0030044	Flexion contracture of digit	3	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0003549	HP:0002803	Congenital contracture	3	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J			7
HP:0003549	HP:0006297	Enamel hypoplasia	3	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J			7
HP:0003549	HP:0002803	Congenital contracture	3	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0003549	HP:0003121	Limb joint contracture	3	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0003549	HP:0030044	Flexion contracture of digit	3	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0003549	HP:0002803	Congenital contracture	3	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0003549	HP:0003121	Limb joint contracture	3	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0003549	HP:0003121	Limb joint contracture	3	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0003549	HP:0002803	Congenital contracture	3	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0003549	HP:0003121	Limb joint contracture	3	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0003549	HP:0002803	Congenital contracture	3	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0003549	HP:0002803	Congenital contracture	3	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0003549	HP:0000023	Inguinal hernia	3	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		94
HP:0003549	HP:0100578	Lipoatrophy	3	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040281 - Very frequent		72
HP:0003549	HP:0100578	Lipoatrophy	3	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		208
HP:0003549	HP:0001537	Umbilical hernia	3	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional		23
HP:0003549	HP:0003121	Limb joint contracture	3	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0030044	Flexion contracture of digit	3	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0001537	Umbilical hernia	3	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional		23
HP:0003549	HP:0001539	Omphalocele	3	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional		23
HP:0003549	HP:0100578	Lipoatrophy	3	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		307
HP:0003549	HP:0001075	Atrophic scars	3	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0003549	HP:0000023	Inguinal hernia	3	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent		165
HP:0003549	HP:0100541	Femoral hernia	3	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent		165
HP:0003549	HP:0000023	Inguinal hernia	3	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0003549	HP:0001537	Umbilical hernia	3	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0003549	HP:0003121	Limb joint contracture	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0003549	HP:0000023	Inguinal hernia	3	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent		72
HP:0003549	HP:0100541	Femoral hernia	3	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent		72
HP:0003549	HP:0003121	Limb joint contracture	3	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003549	HP:0030044	Flexion contracture of digit	3	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003549	HP:0100578	Lipoatrophy	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		116
HP:0003549	HP:0002828	Multiple joint contractures	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0003549	HP:0002803	Congenital contracture	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0003121	Limb joint contracture	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0030044	Flexion contracture of digit	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0002803	Congenital contracture	3	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8			2
HP:0003549	HP:0002803	Congenital contracture	3	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0003549	HP:0002803	Congenital contracture	3	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.		5
HP:0003549	HP:0000023	Inguinal hernia	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0003549	HP:0001537	Umbilical hernia	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0003549	HP:0000023	Inguinal hernia	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0003549	HP:0001075	Atrophic scars	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003549	HP:0001537	Umbilical hernia	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0003549	HP:0002933	Ventral hernia	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0003549	HP:0000023	Inguinal hernia	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0003549	HP:0001075	Atrophic scars	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0003549	HP:0001537	Umbilical hernia	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0003549	HP:0002933	Ventral hernia	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0003549	HP:0000023	Inguinal hernia	3	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional		76
HP:0003549	HP:0001537	Umbilical hernia	3	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent		76
HP:0003549	HP:0008887	Adipose tissue loss	3	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		85
HP:0003549	HP:0001537	Umbilical hernia	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0003549	HP:0003809	Reduced intrathoracic adipose tissue	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0003549	HP:0025128	Reduced intraabdominal adipose tissue	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0003549	HP:0002803	Congenital contracture	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0003549	HP:0002803	Congenital contracture	3	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0003549	HP:0002803	Congenital contracture	3	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0003549	HP:0005876	Progressive flexion contractures	3	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0003549	HP:0006297	Enamel hypoplasia	3	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0003549	HP:0012031	Lipomatous tumor	3	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0003549	HP:0001031	Subcutaneous lipoma	3	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0003549	HP:0012031	Lipomatous tumor	3	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0003549	HP:0012031	Lipomatous tumor	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0003549	HP:0012031	Lipomatous tumor	3	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0003549	HP:0008993	Increased intraabdominal fat	3	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent		12
HP:0003549	HP:0003121	Limb joint contracture	3	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0003549	HP:0000023	Inguinal hernia	3	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional		89
HP:0003549	HP:0003121	Limb joint contracture	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0003549	HP:0000023	Inguinal hernia	3	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0003549	HP:0001537	Umbilical hernia	3	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0003549	HP:0009112	Aplasia of the left hemidiaphragm	3	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0003549	HP:0006297	Enamel hypoplasia	3	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.		87
HP:0003549	HP:0030044	Flexion contracture of digit	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0003549	HP:0003121	Limb joint contracture	3	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			12
HP:0003549	HP:0002828	Multiple joint contractures	3	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15			12
HP:0003549	HP:0002803	Congenital contracture	3	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0003549	HP:0003121	Limb joint contracture	3	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			46
HP:0003549	HP:0002803	Congenital contracture	3	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0003549	HP:0002803	Congenital contracture	3	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0003549	HP:0003121	Limb joint contracture	3	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0003549	HP:0030044	Flexion contracture of digit	3	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0003549	HP:0030044	Flexion contracture of digit	3	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0003549	HP:0001539	Omphalocele	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0003549	HP:0001539	Omphalocele	3	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0003549	HP:0025383	Dorsocervical fat pad	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0003549	HP:0003121	Limb joint contracture	3	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0003549	HP:0003121	Limb joint contracture	3	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0003549	HP:0003121	Limb joint contracture	3	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0003549	HP:0003121	Limb joint contracture	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0012031	Lipomatous tumor	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0030044	Flexion contracture of digit	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0003121	Limb joint contracture	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0012031	Lipomatous tumor	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0030044	Flexion contracture of digit	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0003121	Limb joint contracture	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0012031	Lipomatous tumor	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0030044	Flexion contracture of digit	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F			2
HP:0003549	HP:0006297	Enamel hypoplasia	3	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F			2
HP:0003549	HP:0009722	Dental enamel pits	3	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F			2
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE	.		17
HP:0003549	HP:0006297	Enamel hypoplasia	3	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE	.		17
HP:0003549	HP:0001539	Omphalocele	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	HP:0040284 - Very rare		34
HP:0003549	HP:0003121	Limb joint contracture	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003549	HP:0030044	Flexion contracture of digit	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003549	HP:0000023	Inguinal hernia	3	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome	HP:0040282 - Frequent		9
HP:0003549	HP:0000023	Inguinal hernia	3	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II			9
HP:0003549	HP:0000023	Inguinal hernia	3	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome	HP:0040282 - Frequent		8
HP:0003549	HP:0000023	Inguinal hernia	3	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II			8
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B			1
HP:0003549	HP:0006285	Enamel hypomineralization	3	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B			1
HP:0003549	HP:0005017	Polyarticular chondrocalcinosis	3	ANKH CL E G H	56172	15492	OMIM:118600	Chondrocalcinosis 2	.		164
HP:0003549	HP:0003121	Limb joint contracture	3	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0003549	HP:0100578	Lipoatrophy	3	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		95
HP:0003549	HP:0003121	Limb joint contracture	3	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0003549	HP:0030044	Flexion contracture of digit	3	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0003549	HP:0001537	Umbilical hernia	3	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040282 - Frequent		8
HP:0003549	HP:0001537	Umbilical hernia	3	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0003549	HP:0005876	Progressive flexion contractures	3	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.		49
HP:0003549	HP:0003121	Limb joint contracture	3	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003549	HP:0030044	Flexion contracture of digit	3	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003549	HP:0005876	Progressive flexion contractures	3	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040283 - Occasional		49
HP:0003549	HP:0000023	Inguinal hernia	3	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	HP:0040281 - Very frequent		13
HP:0003549	HP:0012031	Lipomatous tumor	3	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0003549	HP:0010562	Keloids	3	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.		3179
HP:0003549	HP:0012031	Lipomatous tumor	3	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0003549	HP:0012031	Lipomatous tumor	3	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0003549	HP:0010562	Keloids	3	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional		3179
HP:0003549	HP:0012031	Lipomatous tumor	3	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0003549	HP:0000023	Inguinal hernia	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0003549	HP:0001537	Umbilical hernia	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0003549	HP:0003121	Limb joint contracture	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0000023	Inguinal hernia	3	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.		125
HP:0003549	HP:0001539	Omphalocele	3	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional		125
HP:0003549	HP:0000023	Inguinal hernia	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0003549	HP:0003121	Limb joint contracture	3	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0003549	HP:0030044	Flexion contracture of digit	3	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0003549	HP:0000023	Inguinal hernia	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0003549	HP:0001537	Umbilical hernia	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0003549	HP:0025383	Dorsocervical fat pad	3	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0003549	HP:0000023	Inguinal hernia	3	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0003121	Limb joint contracture	3	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0030044	Flexion contracture of digit	3	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0000023	Inguinal hernia	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0003549	HP:0001537	Umbilical hernia	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0003549	HP:0000023	Inguinal hernia	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0001537	Umbilical hernia	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0000023	Inguinal hernia	3	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040283 - Occasional		166
HP:0003549	HP:0003121	Limb joint contracture	3	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0003549	HP:0001537	Umbilical hernia	3	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0003549	HP:0030044	Flexion contracture of digit	3	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0003549	HP:0002803	Congenital contracture	3	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0003549	HP:0002803	Congenital contracture	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0003549	HP:0003121	Limb joint contracture	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0003549	HP:0030044	Flexion contracture of digit	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0003549	HP:0003121	Limb joint contracture	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0030044	Flexion contracture of digit	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0001537	Umbilical hernia	3	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent
HP:0003549	HP:0000023	Inguinal hernia	3	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0003549	HP:0001537	Umbilical hernia	3	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0003549	HP:0002803	Congenital contracture	3	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0003549	HP:0030044	Flexion contracture of digit	3	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0003549	HP:0000023	Inguinal hernia	3	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0003549	HP:0003121	Limb joint contracture	3	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0003549	HP:0000023	Inguinal hernia	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent		140
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0003549	HP:0000023	Inguinal hernia	3	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0003549	HP:0000023	Inguinal hernia	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0003549	HP:0000023	Inguinal hernia	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0003549	HP:0001537	Umbilical hernia	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0003549	HP:0001537	Umbilical hernia	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0003549	HP:0000023	Inguinal hernia	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent		3
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0003549	HP:0000023	Inguinal hernia	3	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0003549	HP:0030044	Flexion contracture of digit	3	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0003549	HP:0000023	Inguinal hernia	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent		2
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0003549	HP:0003121	Limb joint contracture	3	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0003549	HP:0000023	Inguinal hernia	3	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent		192
HP:0003549	HP:0001537	Umbilical hernia	3	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent		192
HP:0003549	HP:0000023	Inguinal hernia	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0003549	HP:0100541	Femoral hernia	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0003549	HP:0010562	Keloids	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0003549	HP:0030044	Flexion contracture of digit	3	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0003549	HP:0006297	Enamel hypoplasia	3	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial	.		168
HP:0003549	HP:0003121	Limb joint contracture	3	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0003549	HP:0006297	Enamel hypoplasia	3	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0003549	HP:0001537	Umbilical hernia	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0003549	HP:0025383	Dorsocervical fat pad	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0003549	HP:0000023	Inguinal hernia	3	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0003549	HP:0001537	Umbilical hernia	3	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0003549	HP:0002803	Congenital contracture	3	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0003549	HP:0003121	Limb joint contracture	3	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0003549	HP:0030044	Flexion contracture of digit	3	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0003549	HP:0000023	Inguinal hernia	3	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0003549	HP:0001537	Umbilical hernia	3	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0003549	HP:0002803	Congenital contracture	3	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0003549	HP:0006297	Enamel hypoplasia	3	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional		435
HP:0003549	HP:0003121	Limb joint contracture	3	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0003549	HP:0001075	Atrophic scars	3	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		38
HP:0003549	HP:0002828	Multiple joint contractures	3	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		38
HP:0003549	HP:0003121	Limb joint contracture	3	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0003549	HP:0000023	Inguinal hernia	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:0003549	HP:0003121	Limb joint contracture	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:0003549	HP:0000023	Inguinal hernia	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0003549	HP:0001537	Umbilical hernia	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0003549	HP:0001537	Umbilical hernia	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0003549	HP:0001075	Atrophic scars	3	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		29
HP:0003549	HP:0001075	Atrophic scars	3	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0003549	HP:0030044	Flexion contracture of digit	3	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0003549	HP:0100578	Lipoatrophy	3	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		204
HP:0003549	HP:0003121	Limb joint contracture	3	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0003549	HP:0100578	Lipoatrophy	3	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0003549	HP:0100578	Lipoatrophy	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.		22
HP:0003549	HP:0000023	Inguinal hernia	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0003549	HP:0001537	Umbilical hernia	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.		3
HP:0003549	HP:0000023	Inguinal hernia	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0003549	HP:0030044	Flexion contracture of digit	3	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0003549	HP:0003121	Limb joint contracture	3	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0003549	HP:0030044	Flexion contracture of digit	3	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0003549	HP:0001537	Umbilical hernia	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional		101
HP:0003549	HP:0003121	Limb joint contracture	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0030044	Flexion contracture of digit	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0003121	Limb joint contracture	3	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0003549	HP:0030044	Flexion contracture of digit	3	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0003549	HP:0000023	Inguinal hernia	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0003121	Limb joint contracture	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0030044	Flexion contracture of digit	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0030044	Flexion contracture of digit	3	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome			7
HP:0003549	HP:0030044	Flexion contracture of digit	3	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex			4
HP:0003549	HP:0001539	Omphalocele	3	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional		4
HP:0003549	HP:0002803	Congenital contracture	3	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0003549	HP:0003121	Limb joint contracture	3	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0003549	HP:0002803	Congenital contracture	3	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0003549	HP:0003121	Limb joint contracture	3	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0003549	HP:0008887	Adipose tissue loss	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040281 - Very frequent		314
HP:0003549	HP:0002803	Congenital contracture	3	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0003549	HP:0001537	Umbilical hernia	3	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0003549	HP:0003121	Limb joint contracture	3	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0003549	HP:0030044	Flexion contracture of digit	3	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0003549	HP:0000023	Inguinal hernia	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0003549	HP:0001031	Subcutaneous lipoma	3	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040284 - Very rare		385
HP:0003549	HP:0012031	Lipomatous tumor	3	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0003549	HP:0025383	Dorsocervical fat pad	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0003549	HP:0000023	Inguinal hernia	3	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.		20
HP:0003549	HP:0001537	Umbilical hernia	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0003549	HP:0001537	Umbilical hernia	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0003549	HP:0000023	Inguinal hernia	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0003549	HP:0003121	Limb joint contracture	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0003549	HP:0001537	Umbilical hernia	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0003549	HP:0030044	Flexion contracture of digit	3	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0003549	HP:0008887	Adipose tissue loss	3	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		105
HP:0003549	HP:0001537	Umbilical hernia	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0003549	HP:0003809	Reduced intrathoracic adipose tissue	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0003549	HP:0025128	Reduced intraabdominal adipose tissue	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent		105
HP:0003549	HP:0025128	Reduced intraabdominal adipose tissue	3	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent		105
HP:0003549	HP:0009064	Generalized lipodystrophy	3	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent		105
HP:0003549	HP:0000023	Inguinal hernia	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0003549	HP:0003121	Limb joint contracture	3	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0003549	HP:0030044	Flexion contracture of digit	3	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0003549	HP:0003121	Limb joint contracture	3	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive			114
HP:0003549	HP:0000023	Inguinal hernia	3	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.		15
HP:0003549	HP:0001075	Atrophic scars	3	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.		15
HP:0003549	HP:0001537	Umbilical hernia	3	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0003549	HP:0001075	Atrophic scars	3	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent		15
HP:0003549	HP:0000023	Inguinal hernia	3	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.		7
HP:0003549	HP:0001537	Umbilical hernia	3	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.		7
HP:0003549	HP:0001075	Atrophic scars	3	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent		7
HP:0003549	HP:0030044	Flexion contracture of digit	3	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0003549	HP:0002803	Congenital contracture	3	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0003549	HP:0003121	Limb joint contracture	3	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0003549	HP:0003121	Limb joint contracture	3	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0003549	HP:0030044	Flexion contracture of digit	3	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0003549	HP:0100578	Lipoatrophy	3	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0003549	HP:0002803	Congenital contracture	3	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0003121	Limb joint contracture	3	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0030044	Flexion contracture of digit	3	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0001075	Atrophic scars	3	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0003549	HP:0001537	Umbilical hernia	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003549	HP:0002828	Multiple joint contractures	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003549	HP:0006297	Enamel hypoplasia	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003549	HP:0008887	Adipose tissue loss	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0001537	Umbilical hernia	3	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		118
HP:0003549	HP:0003121	Limb joint contracture	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0003549	HP:0030044	Flexion contracture of digit	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0003549	HP:0008887	Adipose tissue loss	3	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		11
HP:0003549	HP:0003121	Limb joint contracture	3	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis			11
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0003549	HP:0009064	Generalized lipodystrophy	3	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3	.		11
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0003549	HP:0008887	Adipose tissue loss	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0003549	HP:0008887	Adipose tissue loss	3	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		48
HP:0003549	HP:0000023	Inguinal hernia	3	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.		242
HP:0003549	HP:0000023	Inguinal hernia	3	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		247
HP:0003549	HP:0001537	Umbilical hernia	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0003549	HP:0003121	Limb joint contracture	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0003549	HP:0030044	Flexion contracture of digit	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0003549	HP:0003121	Limb joint contracture	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0003549	HP:0030044	Flexion contracture of digit	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0003549	HP:0000023	Inguinal hernia	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0003549	HP:0030044	Flexion contracture of digit	3	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0003549	HP:0030044	Flexion contracture of digit	3	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0003549	HP:0002803	Congenital contracture	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0003549	HP:0012031	Lipomatous tumor	3	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0003549	HP:0003121	Limb joint contracture	3	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0003121	Limb joint contracture	3	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003549	HP:0030044	Flexion contracture of digit	3	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003549	HP:0003121	Limb joint contracture	3	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003549	HP:0030044	Flexion contracture of digit	3	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003549	HP:0003121	Limb joint contracture	3	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0001539	Omphalocele	3	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0003549	HP:0001539	Omphalocele	3	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional		83
HP:0003549	HP:0000023	Inguinal hernia	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0003549	HP:0030044	Flexion contracture of digit	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0003549	HP:0000023	Inguinal hernia	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0003549	HP:0030044	Flexion contracture of digit	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0003549	HP:0032592	Aplasia of the right hemidiaphragm	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0003549	HP:0003121	Limb joint contracture	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0003549	HP:0030044	Flexion contracture of digit	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0003549	HP:0003121	Limb joint contracture	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0003549	HP:0030044	Flexion contracture of digit	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0003549	HP:0012031	Lipomatous tumor	3	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0003549	HP:0012031	Lipomatous tumor	3	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0003549	HP:0001537	Umbilical hernia	3	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional		4
HP:0003549	HP:0001537	Umbilical hernia	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare		2
HP:0003549	HP:0025383	Dorsocervical fat pad	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0003549	HP:0003121	Limb joint contracture	3	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0003549	HP:0030044	Flexion contracture of digit	3	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0003549	HP:0030044	Flexion contracture of digit	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0003549	HP:0002803	Congenital contracture	3	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0003549	HP:0001537	Umbilical hernia	3	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		405
HP:0003549	HP:0012031	Lipomatous tumor	3	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0003549	HP:0012031	Lipomatous tumor	3	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0003549	HP:0001031	Subcutaneous lipoma	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0003549	HP:0012031	Lipomatous tumor	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0003549	HP:0001539	Omphalocele	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0003549	HP:0000023	Inguinal hernia	3	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		114
HP:0003549	HP:0012031	Lipomatous tumor	3	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0003549	HP:0012031	Lipomatous tumor	3	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0003549	HP:0003121	Limb joint contracture	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0003549	HP:0030044	Flexion contracture of digit	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0003549	HP:0001539	Omphalocele	3	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.		7
HP:0003549	HP:0002803	Congenital contracture	3	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0003549	HP:0003121	Limb joint contracture	3	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0003549	HP:0002803	Congenital contracture	3	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0003549	HP:0001537	Umbilical hernia	3	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0003549	HP:0002803	Congenital contracture	3	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0003549	HP:0002803	Congenital contracture	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0003549	HP:0008985	Increased intramuscular fat	3	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent		11
HP:0003549	HP:0001537	Umbilical hernia	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0003549	HP:0001539	Omphalocele	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0003549	HP:0030044	Flexion contracture of digit	3	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0003549	HP:0002803	Congenital contracture	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0003549	HP:0030044	Flexion contracture of digit	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0003549	HP:0002803	Congenital contracture	3	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0003549	HP:0003121	Limb joint contracture	3	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0003549	HP:0002803	Congenital contracture	3	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0003549	HP:0000023	Inguinal hernia	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		68
HP:0003549	HP:0001537	Umbilical hernia	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0003549	HP:0002803	Congenital contracture	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0003121	Limb joint contracture	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0030044	Flexion contracture of digit	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0000023	Inguinal hernia	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0003549	HP:0001537	Umbilical hernia	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0003549	HP:0002803	Congenital contracture	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0002828	Multiple joint contractures	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0003121	Limb joint contracture	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0030044	Flexion contracture of digit	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0001075	Atrophic scars	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0003549	HP:0001537	Umbilical hernia	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0003549	HP:0002803	Congenital contracture	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0003549	HP:0000023	Inguinal hernia	3	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare		27
HP:0003549	HP:0001075	Atrophic scars	3	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0003549	HP:0002803	Congenital contracture	3	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0003549	HP:0000023	Inguinal hernia	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:0003549	HP:0003121	Limb joint contracture	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:0003549	HP:0003121	Limb joint contracture	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003549	HP:0030044	Flexion contracture of digit	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003549	HP:0001539	Omphalocele	3	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0003549	HP:0008887	Adipose tissue loss	3	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0003549	HP:0003121	Limb joint contracture	3	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0003549	HP:0030044	Flexion contracture of digit	3	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0003549	HP:0002803	Congenital contracture	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0003549	HP:0000023	Inguinal hernia	3	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040284 - Very rare		45
HP:0003549	HP:0006297	Enamel hypoplasia	3	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.		11
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0003549	HP:0000023	Inguinal hernia	3	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040282 - Frequent		42
HP:0003549	HP:0001537	Umbilical hernia	3	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040283 - Occasional		42
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	HP:0040284 - Very rare		42
HP:0003549	HP:0005781	Contractures of the large joints	3	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent		4
HP:0003549	HP:0000023	Inguinal hernia	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0100578	Lipoatrophy	3	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent		7
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent		61
HP:0003549	HP:0033785	Enamel agenesis	3	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0003549	HP:0003121	Limb joint contracture	3	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0003549	HP:0030044	Flexion contracture of digit	3	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0003549	HP:0002803	Congenital contracture	3	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0003549	HP:0003121	Limb joint contracture	3	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0003549	HP:0002803	Congenital contracture	3	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0003549	HP:0003121	Limb joint contracture	3	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0003549	HP:0030044	Flexion contracture of digit	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0003549	HP:0003121	Limb joint contracture	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0003549	HP:0030044	Flexion contracture of digit	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0003549	HP:0006297	Enamel hypoplasia	3	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0003549	HP:0006297	Enamel hypoplasia	3	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent		71
HP:0003549	HP:0006297	Enamel hypoplasia	3	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.		71
HP:0003549	HP:0001539	Omphalocele	3	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional		215
HP:0003549	HP:0003121	Limb joint contracture	3	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0001539	Omphalocele	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0003549	HP:0003121	Limb joint contracture	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0003549	HP:0001539	Omphalocele	3	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional		222
HP:0003549	HP:0003121	Limb joint contracture	3	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0001075	Atrophic scars	3	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0002828	Multiple joint contractures	3	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0003549	HP:0003121	Limb joint contracture	3	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0001075	Atrophic scars	3	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0003549	HP:0003121	Limb joint contracture	3	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0003549	HP:0002803	Congenital contracture	3	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003549	HP:0002828	Multiple joint contractures	3	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003549	HP:0003121	Limb joint contracture	3	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0002803	Congenital contracture	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0003549	HP:0009722	Dental enamel pits	3	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0003549	HP:0001075	Atrophic scars	3	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		129
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		129
HP:0003549	HP:0006297	Enamel hypoplasia	3	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		129
HP:0003549	HP:0006297	Enamel hypoplasia	3	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0003549	HP:0003121	Limb joint contracture	3	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040284 - Very rare		129
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		129
HP:0003549	HP:0006297	Enamel hypoplasia	3	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0003549	HP:0009722	Dental enamel pits	3	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0003549	HP:0000023	Inguinal hernia	3	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0003549	HP:0100541	Femoral hernia	3	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0003549	HP:0000023	Inguinal hernia	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0003549	HP:0000139	Uterine prolapse	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0003549	HP:0001075	Atrophic scars	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0003549	HP:0001537	Umbilical hernia	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0003549	HP:0004872	Incisional hernia	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0003549	HP:0000023	Inguinal hernia	3	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0003549	HP:0001075	Atrophic scars	3	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.		373
HP:0003549	HP:0000023	Inguinal hernia	3	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0003549	HP:0100541	Femoral hernia	3	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0003549	HP:0000023	Inguinal hernia	3	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent		243
HP:0003549	HP:0001075	Atrophic scars	3	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent		243
HP:0003549	HP:0001075	Atrophic scars	3	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	HP:0040284 - Very rare		243
HP:0003549	HP:0000023	Inguinal hernia	3	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.		243
HP:0003549	HP:0001075	Atrophic scars	3	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.		243
HP:0003549	HP:0003121	Limb joint contracture	3	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0003549	HP:0000023	Inguinal hernia	3	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0003549	HP:0001537	Umbilical hernia	3	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0003549	HP:0003121	Limb joint contracture	3	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0003549	HP:0003121	Limb joint contracture	3	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0003549	HP:0000023	Inguinal hernia	3	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.		284
HP:0003549	HP:0100578	Lipoatrophy	3	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent		749
HP:0003549	HP:0000023	Inguinal hernia	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003549	HP:0000139	Uterine prolapse	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0003549	HP:0001075	Atrophic scars	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003549	HP:0100672	Vaginal hernia	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003549	HP:0001075	Atrophic scars	3	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.		749
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0003549	HP:0000023	Inguinal hernia	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0003549	HP:0000139	Uterine prolapse	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0003549	HP:0001075	Atrophic scars	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0003549	HP:0001537	Umbilical hernia	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0003549	HP:0100672	Vaginal hernia	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0003549	HP:0000023	Inguinal hernia	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0003549	HP:0000139	Uterine prolapse	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0003549	HP:0001075	Atrophic scars	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		660
HP:0003549	HP:0001537	Umbilical hernia	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0003549	HP:0004872	Incisional hernia	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0003549	HP:0000023	Inguinal hernia	3	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0003549	HP:0001075	Atrophic scars	3	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0003549	HP:0001537	Umbilical hernia	3	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.		660
HP:0003549	HP:0001075	Atrophic scars	3	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0003549	HP:0000023	Inguinal hernia	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0003549	HP:0000139	Uterine prolapse	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0003549	HP:0001075	Atrophic scars	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		325
HP:0003549	HP:0001537	Umbilical hernia	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0003549	HP:0004872	Incisional hernia	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0003549	HP:0001075	Atrophic scars	3	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0003549	HP:0001075	Atrophic scars	3	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0002828	Multiple joint contractures	3	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0003549	HP:0003121	Limb joint contracture	3	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0003121	Limb joint contracture	3	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0003121	Limb joint contracture	3	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0003549	HP:0001075	Atrophic scars	3	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0002828	Multiple joint contractures	3	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0003549	HP:0003121	Limb joint contracture	3	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0003121	Limb joint contracture	3	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0003121	Limb joint contracture	3	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0003549	HP:0003121	Limb joint contracture	3	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0003549	HP:0005997	Neck joint contracture	3	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.		478
HP:0003549	HP:0001075	Atrophic scars	3	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0002828	Multiple joint contractures	3	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0003549	HP:0003121	Limb joint contracture	3	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0003121	Limb joint contracture	3	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0030044	Flexion contracture of digit	3	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0003121	Limb joint contracture	3	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0003549	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional		263
HP:0003549	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		263
HP:0003549	HP:0003121	Limb joint contracture	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0003549	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional		263
HP:0003549	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant	.		263
HP:0003549	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0003549	HP:0006297	Enamel hypoplasia	3	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0003549	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0003549	HP:0010562	Keloids	3	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0003549	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040282 - Frequent		263
HP:0003549	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040282 - Frequent		263
HP:0003549	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn	.		263
HP:0003549	HP:0001537	Umbilical hernia	3	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional		3
HP:0003549	HP:0001537	Umbilical hernia	3	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional		9
HP:0003549	HP:0000023	Inguinal hernia	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0003549	HP:0001537	Umbilical hernia	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0003549	HP:0003121	Limb joint contracture	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0003549	HP:0000023	Inguinal hernia	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0003549	HP:0001537	Umbilical hernia	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0003549	HP:0006297	Enamel hypoplasia	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1	.		291
HP:0003549	HP:0010562	Keloids	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0003549	HP:0010562	Keloids	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0003549	HP:0010562	Keloids	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare		291
HP:0003549	HP:0000023	Inguinal hernia	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0003121	Limb joint contracture	3	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0003549	HP:0030044	Flexion contracture of digit	3	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0003549	HP:0003121	Limb joint contracture	3	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0003549	HP:0030044	Flexion contracture of digit	3	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0003549	HP:0003121	Limb joint contracture	3	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0003549	HP:0100578	Lipoatrophy	3	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		46
HP:0003549	HP:0003121	Limb joint contracture	3	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003549	HP:0100578	Lipoatrophy	3	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		104
HP:0003549	HP:0000023	Inguinal hernia	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0003549	HP:0003121	Limb joint contracture	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003549	HP:0030044	Flexion contracture of digit	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003549	HP:0003121	Limb joint contracture	3	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003549	HP:0030044	Flexion contracture of digit	3	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003549	HP:0000023	Inguinal hernia	3	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional		15
HP:0003549	HP:0001075	Atrophic scars	3	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0003549	HP:0006297	Enamel hypoplasia	3	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003549	HP:0000023	Inguinal hernia	3	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent		38
HP:0003549	HP:0003121	Limb joint contracture	3	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0030044	Flexion contracture of digit	3	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0000023	Inguinal hernia	3	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0003549	HP:0006297	Enamel hypoplasia	3	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional		41
HP:0003549	HP:0006297	Enamel hypoplasia	3	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0003549	HP:0006297	Enamel hypoplasia	3	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional		5
HP:0003549	HP:0001539	Omphalocele	3	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040283 - Occasional		2
HP:0003549	HP:0003121	Limb joint contracture	3	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0003549	HP:0003121	Limb joint contracture	3	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0003549	HP:0030044	Flexion contracture of digit	3	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0003549	HP:0003121	Limb joint contracture	3	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0003549	HP:0003121	Limb joint contracture	3	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003549	HP:0003121	Limb joint contracture	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0030044	Flexion contracture of digit	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0006297	Enamel hypoplasia	3	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional		2
HP:0003549	HP:0000023	Inguinal hernia	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0003549	HP:0100578	Lipoatrophy	3	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		263
HP:0003549	HP:0000023	Inguinal hernia	3	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0001537	Umbilical hernia	3	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0000023	Inguinal hernia	3	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0001537	Umbilical hernia	3	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0000023	Inguinal hernia	3	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0001537	Umbilical hernia	3	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0002803	Congenital contracture	3	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0003549	HP:0003121	Limb joint contracture	3	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0003549	HP:0003121	Limb joint contracture	3	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0003549	HP:0030044	Flexion contracture of digit	3	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0003549	HP:0003121	Limb joint contracture	3	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003549	HP:0000023	Inguinal hernia	3	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional		164
HP:0003549	HP:0100541	Femoral hernia	3	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional		164
HP:0003549	HP:0001537	Umbilical hernia	3	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0003549	HP:0001539	Omphalocele	3	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0003549	HP:0000023	Inguinal hernia	3	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0003549	HP:0001537	Umbilical hernia	3	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0003549	HP:0001539	Omphalocele	3	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0003549	HP:0003121	Limb joint contracture	3	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0001539	Omphalocele	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:0003549	HP:0003121	Limb joint contracture	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0000023	Inguinal hernia	3	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0003549	HP:0001537	Umbilical hernia	3	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0003549	HP:0003121	Limb joint contracture	3	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0030044	Flexion contracture of digit	3	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4			48
HP:0003549	HP:0006297	Enamel hypoplasia	3	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4			48
HP:0003549	HP:0006285	Enamel hypomineralization	3	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent		48
HP:0003549	HP:0009722	Dental enamel pits	3	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent		48
HP:0003549	HP:0003121	Limb joint contracture	3	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0003549	HP:0100578	Lipoatrophy	3	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		1496
HP:0003549	HP:0003121	Limb joint contracture	3	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0003549	HP:0001537	Umbilical hernia	3	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0003549	HP:0002828	Multiple joint contractures	3	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent		41
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0003549	HP:0006297	Enamel hypoplasia	3	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0003549	HP:0000023	Inguinal hernia	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0002803	Congenital contracture	3	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.		167
HP:0003549	HP:0001537	Umbilical hernia	3	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare		44
HP:0003549	HP:0001537	Umbilical hernia	3	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional		44
HP:0003549	HP:0001537	Umbilical hernia	3	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional		79
HP:0003549	HP:0002803	Congenital contracture	3	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0002828	Multiple joint contractures	3	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0003549	HP:0003121	Limb joint contracture	3	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0030044	Flexion contracture of digit	3	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0100578	Lipoatrophy	3	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		55
HP:0003549	HP:0003121	Limb joint contracture	3	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			38
HP:0003549	HP:0030044	Flexion contracture of digit	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0003549	HP:0000023	Inguinal hernia	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional		3
HP:0003549	HP:0030044	Flexion contracture of digit	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0003549	HP:0003121	Limb joint contracture	3	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0003549	HP:0030044	Flexion contracture of digit	3	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0003549	HP:0003121	Limb joint contracture	3	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0003549	HP:0030044	Flexion contracture of digit	3	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0003549	HP:0002803	Congenital contracture	3	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.		26
HP:0003549	HP:0005781	Contractures of the large joints	3	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0003549	HP:0000023	Inguinal hernia	3	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0003549	HP:0030044	Flexion contracture of digit	3	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0003549	HP:0000023	Inguinal hernia	3	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare		13
HP:0003549	HP:0001075	Atrophic scars	3	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0003549	HP:0002803	Congenital contracture	3	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0003549	HP:0100578	Lipoatrophy	3	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		358
HP:0003549	HP:0100578	Lipoatrophy	3	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		747
HP:0003549	HP:0003121	Limb joint contracture	3	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0003549	HP:0030044	Flexion contracture of digit	3	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0003549	HP:0011060	Dentinogenesis imperfecta limited to primary teeth	3	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II	.		38
HP:0003549	HP:0000694	Odontodysplasia	3	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III	.		38
HP:0003549	HP:0009722	Dental enamel pits	3	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III			38
HP:0003549	HP:0001537	Umbilical hernia	3	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		121
HP:0003549	HP:0001537	Umbilical hernia	3	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional		121
HP:0003549	HP:0001537	Umbilical hernia	3	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		11
HP:0003549	HP:0030044	Flexion contracture of digit	3	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0003549	HP:0000023	Inguinal hernia	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0003549	HP:0001537	Umbilical hernia	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		14
HP:0003549	HP:0100541	Femoral hernia	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0003549	HP:0003121	Limb joint contracture	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0030044	Flexion contracture of digit	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0000023	Inguinal hernia	3	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		14
HP:0003549	HP:0001537	Umbilical hernia	3	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		14
HP:0003549	HP:0001537	Umbilical hernia	3	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	HP:0040283 - Occasional		14
HP:0003549	HP:0030044	Flexion contracture of digit	3	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003549	HP:0000023	Inguinal hernia	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0001537	Umbilical hernia	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		5
HP:0003549	HP:0100541	Femoral hernia	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0003121	Limb joint contracture	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0030044	Flexion contracture of digit	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0001539	Omphalocele	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0003549	HP:0030044	Flexion contracture of digit	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0003549	HP:0030044	Flexion contracture of digit	3	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0003549	HP:0001539	Omphalocele	3	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional		304
HP:0003549	HP:0001539	Omphalocele	3	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0003549	HP:0001539	Omphalocele	3	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0003549	HP:0000023	Inguinal hernia	3	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:0003549	HP:0003121	Limb joint contracture	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0003549	HP:0030044	Flexion contracture of digit	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040281 - Very frequent		51
HP:0003549	HP:0003121	Limb joint contracture	3	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0030044	Flexion contracture of digit	3	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0003121	Limb joint contracture	3	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0003549	HP:0030044	Flexion contracture of digit	3	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0003549	HP:0006297	Enamel hypoplasia	3	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional		115
HP:0003549	HP:0006297	Enamel hypoplasia	3	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional		56
HP:0003549	HP:0001537	Umbilical hernia	3	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0003549	HP:0030044	Flexion contracture of digit	3	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0003549	HP:0000023	Inguinal hernia	3	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		4
HP:0003549	HP:0003121	Limb joint contracture	3	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0030044	Flexion contracture of digit	3	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0000023	Inguinal hernia	3	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent		45
HP:0003549	HP:0000023	Inguinal hernia	3	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.		45
HP:0003549	HP:0003121	Limb joint contracture	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0030044	Flexion contracture of digit	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0001537	Umbilical hernia	3	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0003549	HP:0000023	Inguinal hernia	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0003549	HP:0100541	Femoral hernia	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0003549	HP:0000023	Inguinal hernia	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0003549	HP:0001537	Umbilical hernia	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare		223
HP:0003549	HP:0000023	Inguinal hernia	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0003549	HP:0030044	Flexion contracture of digit	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0003549	HP:0001537	Umbilical hernia	3	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.		3
HP:0003549	HP:0000023	Inguinal hernia	3	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional		172
HP:0003549	HP:0000023	Inguinal hernia	3	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.		172
HP:0003549	HP:0000139	Uterine prolapse	3	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0003549	HP:0000023	Inguinal hernia	3	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		172
HP:0003549	HP:0000023	Inguinal hernia	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0003549	HP:0001537	Umbilical hernia	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0003549	HP:0000023	Inguinal hernia	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003549	HP:0001537	Umbilical hernia	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003549	HP:0000023	Inguinal hernia	3	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.		62
HP:0003549	HP:0003121	Limb joint contracture	3	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0003549	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	3	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.		107
HP:0003549	HP:0003121	Limb joint contracture	3	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0003549	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	3	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		107
HP:0003549	HP:0003121	Limb joint contracture	3	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0003549	HP:0030044	Flexion contracture of digit	3	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0003549	HP:0001537	Umbilical hernia	3	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	ENAM CL E G H	10117	3344	OMIM:104500	Amelogenesis imperfecta, type IB	.		50
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC	.		50
HP:0003549	HP:0006285	Enamel hypomineralization	3	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC	.		50
HP:0003549	HP:0012031	Lipomatous tumor	3	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0003549	HP:0001537	Umbilical hernia	3	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional		4
HP:0003549	HP:0006297	Enamel hypoplasia	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1	.		250
HP:0003549	HP:0010562	Keloids	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0003549	HP:0010562	Keloids	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare		250
HP:0003549	HP:0030044	Flexion contracture of digit	3	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0003549	HP:0002803	Congenital contracture	3	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0003549	HP:0002803	Congenital contracture	3	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0003549	HP:0002803	Congenital contracture	3	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0003121	Limb joint contracture	3	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0030044	Flexion contracture of digit	3	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0006297	Enamel hypoplasia	3	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0003549	HP:0002803	Congenital contracture	3	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0003121	Limb joint contracture	3	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0030044	Flexion contracture of digit	3	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0003121	Limb joint contracture	3	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0030044	Flexion contracture of digit	3	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0002803	Congenital contracture	3	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0003121	Limb joint contracture	3	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0030044	Flexion contracture of digit	3	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0001537	Umbilical hernia	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0003549	HP:0002828	Multiple joint contractures	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0003549	HP:0006297	Enamel hypoplasia	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0003549	HP:0008887	Adipose tissue loss	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003549	HP:0008887	Adipose tissue loss	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0003549	HP:0001537	Umbilical hernia	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0003549	HP:0002828	Multiple joint contractures	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0003549	HP:0006297	Enamel hypoplasia	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0003549	HP:0008887	Adipose tissue loss	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003549	HP:0003121	Limb joint contracture	3	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0003549	HP:0006297	Enamel hypoplasia	3	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0003549	HP:0001537	Umbilical hernia	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0003549	HP:0006297	Enamel hypoplasia	3	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0003549	HP:0008887	Adipose tissue loss	3	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0003549	HP:0002803	Congenital contracture	3	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0003549	HP:0002803	Congenital contracture	3	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0003121	Limb joint contracture	3	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0030044	Flexion contracture of digit	3	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0002803	Congenital contracture	3	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003549	HP:0003121	Limb joint contracture	3	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003549	HP:0030044	Flexion contracture of digit	3	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003549	HP:0003121	Limb joint contracture	3	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0003549	HP:0006297	Enamel hypoplasia	3	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0003549	HP:0006297	Enamel hypoplasia	3	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0003549	HP:0006297	Enamel hypoplasia	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0003549	HP:0000292	Loss of facial adipose tissue	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0003549	HP:0008887	Adipose tissue loss	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003549	HP:0002803	Congenital contracture	3	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0003121	Limb joint contracture	3	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0030044	Flexion contracture of digit	3	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0000292	Loss of facial adipose tissue	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0003549	HP:0003121	Limb joint contracture	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0003549	HP:0006297	Enamel hypoplasia	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0008887	Adipose tissue loss	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0003121	Limb joint contracture	3	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0003549	HP:0006297	Enamel hypoplasia	3	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0003549	HP:0006297	Enamel hypoplasia	3	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0003549	HP:0006297	Enamel hypoplasia	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0003549	HP:0002803	Congenital contracture	3	ERGIC1 CL E G H	57222	29205	OMIM:208100	Arthrogryposis multiplex congenita, Neurogenic type	.
HP:0003549	HP:0003121	Limb joint contracture	3	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003549	HP:0003121	Limb joint contracture	3	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0003549	HP:0003121	Limb joint contracture	3	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0003549	HP:0005997	Neck joint contracture	3	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0003549	HP:0030044	Flexion contracture of digit	3	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0003549	HP:0003121	Limb joint contracture	3	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040281 - Very frequent		18
HP:0003549	HP:0003121	Limb joint contracture	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0003549	HP:0003121	Limb joint contracture	3	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0003549	HP:0005876	Progressive flexion contractures	3	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional		92
HP:0003549	HP:0000023	Inguinal hernia	3	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0001537	Umbilical hernia	3	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0003549	HP:0003121	Limb joint contracture	3	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0003549	HP:0002803	Congenital contracture	3	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0003549	HP:0002803	Congenital contracture	3	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0003549	HP:0030044	Flexion contracture of digit	3	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0003549	HP:0002803	Congenital contracture	3	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0003549	HP:0002803	Congenital contracture	3	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0003549	HP:0002828	Multiple joint contractures	3	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0003549	HP:0003121	Limb joint contracture	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0003549	HP:0000023	Inguinal hernia	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0003549	HP:0000023	Inguinal hernia	3	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		81
HP:0003549	HP:0001537	Umbilical hernia	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0003549	HP:0003121	Limb joint contracture	3	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0003121	Limb joint contracture	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0003549	HP:0030044	Flexion contracture of digit	3	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0030044	Flexion contracture of digit	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0003549	HP:0003121	Limb joint contracture	3	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A			303
HP:0003549	HP:0003121	Limb joint contracture	3	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional		303
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.		16
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040281 - Very frequent		16
HP:0003549	HP:0002803	Congenital contracture	3	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0003549	HP:0006297	Enamel hypoplasia	3	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	FAM83H CL E G H	286077	24797	OMIM:130900	Amelogenesis imperfecta, type III	.		22
HP:0003549	HP:0001537	Umbilical hernia	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0003549	HP:0001537	Umbilical hernia	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0003549	HP:0000023	Inguinal hernia	3	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional		58
HP:0003549	HP:0100541	Femoral hernia	3	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional		58
HP:0003549	HP:0001537	Umbilical hernia	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0003549	HP:0001537	Umbilical hernia	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0003549	HP:0001537	Umbilical hernia	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0003549	HP:0001537	Umbilical hernia	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0003549	HP:0001537	Umbilical hernia	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0003549	HP:0001537	Umbilical hernia	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0003549	HP:0001537	Umbilical hernia	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0003549	HP:0001537	Umbilical hernia	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0003549	HP:0000023	Inguinal hernia	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003549	HP:0030044	Flexion contracture of digit	3	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0003549	HP:0030044	Flexion contracture of digit	3	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0003549	HP:0003121	Limb joint contracture	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0003549	HP:0030044	Flexion contracture of digit	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0003549	HP:0000023	Inguinal hernia	3	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional		63
HP:0003549	HP:0000023	Inguinal hernia	3	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent		63
HP:0003549	HP:0000023	Inguinal hernia	3	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.		63
HP:0003549	HP:0001537	Umbilical hernia	3	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.		63
HP:0003549	HP:0000023	Inguinal hernia	3	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		1361
HP:0003549	HP:0100578	Lipoatrophy	3	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0003549	HP:0008887	Adipose tissue loss	3	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0003549	HP:0009064	Generalized lipodystrophy	3	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.		1361
HP:0003549	HP:0004872	Incisional hernia	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.		1361
HP:0003549	HP:0030044	Flexion contracture of digit	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0003549	HP:0100578	Lipoatrophy	3	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent		1361
HP:0003549	HP:0000023	Inguinal hernia	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		1361
HP:0003549	HP:0001537	Umbilical hernia	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		1361
HP:0003549	HP:0003121	Limb joint contracture	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0030044	Flexion contracture of digit	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0100578	Lipoatrophy	3	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional		1361
HP:0003549	HP:0003121	Limb joint contracture	3	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0030044	Flexion contracture of digit	3	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0001537	Umbilical hernia	3	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0003121	Limb joint contracture	3	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0030044	Flexion contracture of digit	3	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0002803	Congenital contracture	3	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0003549	HP:0003121	Limb joint contracture	3	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0003549	HP:0030044	Flexion contracture of digit	3	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0003549	HP:0002803	Congenital contracture	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0003121	Limb joint contracture	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0030044	Flexion contracture of digit	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0003121	Limb joint contracture	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0006297	Enamel hypoplasia	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0030044	Flexion contracture of digit	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0000023	Inguinal hernia	3	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0001537	Umbilical hernia	3	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0003121	Limb joint contracture	3	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0030044	Flexion contracture of digit	3	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0003121	Limb joint contracture	3	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003549	HP:0003121	Limb joint contracture	3	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:0030044	Flexion contracture of digit	3	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:0000023	Inguinal hernia	3	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0003549	HP:0000023	Inguinal hernia	3	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent		62
HP:0003549	HP:0001537	Umbilical hernia	3	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent		62
HP:0003549	HP:0003121	Limb joint contracture	3	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0030044	Flexion contracture of digit	3	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0006297	Enamel hypoplasia	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		17
HP:0003549	HP:0006297	Enamel hypoplasia	3	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.		17
HP:0003549	HP:0030044	Flexion contracture of digit	3	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003549	HP:0030044	Flexion contracture of digit	3	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0003549	HP:0001031	Subcutaneous lipoma	3	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.		172
HP:0003549	HP:0012031	Lipomatous tumor	3	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0003549	HP:0012031	Lipomatous tumor	3	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0003549	HP:0001539	Omphalocele	3	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly	HP:0040283 - Occasional		172
HP:0003549	HP:0030044	Flexion contracture of digit	3	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0003549	HP:0006297	Enamel hypoplasia	3	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional		172
HP:0003549	HP:0000023	Inguinal hernia	3	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0003549	HP:0000023	Inguinal hernia	3	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040283 - Occasional		172
HP:0003549	HP:0001539	Omphalocele	3	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.		172
HP:0003549	HP:0030044	Flexion contracture of digit	3	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0003549	HP:0001537	Umbilical hernia	3	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional		175
HP:0003549	HP:0006297	Enamel hypoplasia	3	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.		175
HP:0003549	HP:0006297	Enamel hypoplasia	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		175
HP:0003549	HP:0003121	Limb joint contracture	3	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0003549	HP:0030044	Flexion contracture of digit	3	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0003549	HP:0003121	Limb joint contracture	3	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0003549	HP:0030044	Flexion contracture of digit	3	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0003549	HP:0006297	Enamel hypoplasia	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		145
HP:0003549	HP:0006297	Enamel hypoplasia	3	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.		145
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0003549	HP:0003121	Limb joint contracture	3	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0003549	HP:0003121	Limb joint contracture	3	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0003549	HP:0030044	Flexion contracture of digit	3	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0003549	HP:0003121	Limb joint contracture	3	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0003549	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	3	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		68
HP:0003549	HP:0100578	Lipoatrophy	3	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		36
HP:0003549	HP:0000023	Inguinal hernia	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0030044	Flexion contracture of digit	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0003549	HP:0002803	Congenital contracture	3	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0003549	HP:0003121	Limb joint contracture	3	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0003549	HP:0002803	Congenital contracture	3	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0003549	HP:0003121	Limb joint contracture	3	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0003549	HP:0000023	Inguinal hernia	3	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional		13
HP:0003549	HP:0001537	Umbilical hernia	3	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional		13
HP:0003549	HP:0001075	Atrophic scars	3	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040282 - Frequent		13
HP:0003549	HP:0000023	Inguinal hernia	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0002828	Multiple joint contractures	3	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		157
HP:0003549	HP:0003121	Limb joint contracture	3	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0003549	HP:0002803	Congenital contracture	3	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0003549	HP:0003121	Limb joint contracture	3	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0003549	HP:0003121	Limb joint contracture	3	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0003549	HP:0003121	Limb joint contracture	3	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0003549	HP:0003121	Limb joint contracture	3	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0003549	HP:0030044	Flexion contracture of digit	3	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0003549	HP:0100578	Lipoatrophy	3	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		184
HP:0003549	HP:0002803	Congenital contracture	3	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0003549	HP:0012031	Lipomatous tumor	3	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome			332
HP:0003549	HP:0012031	Lipomatous tumor	3	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0003549	HP:0000023	Inguinal hernia	3	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional		8
HP:0003549	HP:0100578	Lipoatrophy	3	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent		493
HP:0003549	HP:0003121	Limb joint contracture	3	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003549	HP:0003121	Limb joint contracture	3	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0010562	Keloids	3	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0003549	HP:0030044	Flexion contracture of digit	3	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003549	HP:0030044	Flexion contracture of digit	3	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0001539	Omphalocele	3	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040283 - Occasional		493
HP:0003549	HP:0001539	Omphalocele	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0003549	HP:0001539	Omphalocele	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0003549	HP:0003121	Limb joint contracture	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0030044	Flexion contracture of digit	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0001539	Omphalocele	3	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0003549	HP:0001539	Omphalocele	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0003549	HP:0002828	Multiple joint contractures	3	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0003549	HP:0003121	Limb joint contracture	3	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0030044	Flexion contracture of digit	3	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0030044	Flexion contracture of digit	3	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0003549	HP:0000023	Inguinal hernia	3	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent		493
HP:0003549	HP:0001537	Umbilical hernia	3	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent		493
HP:0003549	HP:0001539	Omphalocele	3	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent		233
HP:0003549	HP:0000023	Inguinal hernia	3	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0003549	HP:0006297	Enamel hypoplasia	3	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0003549	HP:0002828	Multiple joint contractures	3	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0003121	Limb joint contracture	3	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0003549	HP:0030044	Flexion contracture of digit	3	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0003549	HP:0003121	Limb joint contracture	3	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0003549	HP:0030044	Flexion contracture of digit	3	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0003549	HP:0000023	Inguinal hernia	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0003549	HP:0001537	Umbilical hernia	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0003549	HP:0008887	Adipose tissue loss	3	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent
HP:0003549	HP:0000023	Inguinal hernia	3	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		23
HP:0003549	HP:0001539	Omphalocele	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0003549	HP:0001537	Umbilical hernia	3	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		353
HP:0003549	HP:0001539	Omphalocele	3	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		353
HP:0003549	HP:0001539	Omphalocele	3	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly	HP:0040283 - Occasional		198
HP:0003549	HP:0001539	Omphalocele	3	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.		198
HP:0003549	HP:0001537	Umbilical hernia	3	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		263
HP:0003549	HP:0001539	Omphalocele	3	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		263
HP:0003549	HP:0001537	Umbilical hernia	3	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0003549	HP:0100578	Lipoatrophy	3	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent		43
HP:0003549	HP:0003121	Limb joint contracture	3	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0003549	HP:0012031	Lipomatous tumor	3	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0003549	HP:0000023	Inguinal hernia	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0003549	HP:0001537	Umbilical hernia	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0003549	HP:0100541	Femoral hernia	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0000023	Inguinal hernia	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0003549	HP:0003121	Limb joint contracture	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0003549	HP:0030044	Flexion contracture of digit	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0003549	HP:0001539	Omphalocele	3	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0003549	HP:0000023	Inguinal hernia	3	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0003549	HP:0000683	Grayish enamel	3	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0003549	HP:0006297	Enamel hypoplasia	3	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.		46
HP:0003549	HP:0003121	Limb joint contracture	3	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0003549	HP:0000023	Inguinal hernia	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	HP:0040283 - Occasional		37
HP:0003549	HP:0001537	Umbilical hernia	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0003549	HP:0009112	Aplasia of the left hemidiaphragm	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0003549	HP:0001537	Umbilical hernia	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare		37
HP:0003549	HP:0100578	Lipoatrophy	3	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		35
HP:0003549	HP:0002803	Congenital contracture	3	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0003549	HP:0002803	Congenital contracture	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0003549	HP:0002803	Congenital contracture	3	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0003549	HP:0005876	Progressive flexion contractures	3	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		86
HP:0003549	HP:0002803	Congenital contracture	3	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0003549	HP:0003121	Limb joint contracture	3	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0003549	HP:0003121	Limb joint contracture	3	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0003549	HP:0000023	Inguinal hernia	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0003549	HP:0000023	Inguinal hernia	3	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0003549	HP:0003121	Limb joint contracture	3	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0003549	HP:0030044	Flexion contracture of digit	3	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0003549	HP:0002803	Congenital contracture	3	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0003549	HP:0003121	Limb joint contracture	3	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0003549	HP:0002803	Congenital contracture	3	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0003549	HP:0003121	Limb joint contracture	3	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			128
HP:0003549	HP:0002803	Congenital contracture	3	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0003549	HP:0003121	Limb joint contracture	3	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0003549	HP:0030044	Flexion contracture of digit	3	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0003549	HP:0001537	Umbilical hernia	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0003549	HP:0003121	Limb joint contracture	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0003549	HP:0003121	Limb joint contracture	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0006297	Enamel hypoplasia	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0003549	HP:0030044	Flexion contracture of digit	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0003549	HP:0030044	Flexion contracture of digit	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0003121	Limb joint contracture	3	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3			68
HP:0003549	HP:0030044	Flexion contracture of digit	3	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3			68
HP:0003549	HP:0030044	Flexion contracture of digit	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0003549	HP:0030044	Flexion contracture of digit	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0003549	HP:0003121	Limb joint contracture	3	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.		199
HP:0003549	HP:0003121	Limb joint contracture	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0003549	HP:0003121	Limb joint contracture	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003549	HP:0003121	Limb joint contracture	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003549	HP:0000023	Inguinal hernia	3	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.		120
HP:0003549	HP:0000023	Inguinal hernia	3	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0003549	HP:0000683	Grayish enamel	3	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0003549	HP:0002803	Congenital contracture	3	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0003549	HP:0002803	Congenital contracture	3	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1			45
HP:0003549	HP:0000023	Inguinal hernia	3	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional		270
HP:0003549	HP:0000023	Inguinal hernia	3	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0001537	Umbilical hernia	3	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0001537	Umbilical hernia	3	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional		270
HP:0003549	HP:0003121	Limb joint contracture	3	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0030044	Flexion contracture of digit	3	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0000023	Inguinal hernia	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0003549	HP:0001537	Umbilical hernia	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0003549	HP:0002803	Congenital contracture	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0003549	HP:0003121	Limb joint contracture	3	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0003549	HP:0001537	Umbilical hernia	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional		143
HP:0003549	HP:0001537	Umbilical hernia	3	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent		63
HP:0003549	HP:0000023	Inguinal hernia	3	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.		63
HP:0003549	HP:0001537	Umbilical hernia	3	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.		63
HP:0003549	HP:0001537	Umbilical hernia	3	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent		46
HP:0003549	HP:0030044	Flexion contracture of digit	3	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0003549	HP:0003121	Limb joint contracture	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0003549	HP:0030044	Flexion contracture of digit	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0003549	HP:0001537	Umbilical hernia	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0003549	HP:0002828	Multiple joint contractures	3	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		34
HP:0003549	HP:0003121	Limb joint contracture	3	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			34
HP:0003549	HP:0012031	Lipomatous tumor	3	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II			16
HP:0003549	HP:0001537	Umbilical hernia	3	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		36
HP:0003549	HP:0025383	Dorsocervical fat pad	3	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0003549	HP:0006297	Enamel hypoplasia	3	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent		101
HP:0003549	HP:0006297	Enamel hypoplasia	3	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent		101
HP:0003549	HP:0006297	Enamel hypoplasia	3	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent		101
HP:0003549	HP:0006297	Enamel hypoplasia	3	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.		101
HP:0003549	HP:0006297	Enamel hypoplasia	3	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.		101
HP:0003549	HP:0006297	Enamel hypoplasia	3	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.		101
HP:0003549	HP:0000023	Inguinal hernia	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0002803	Congenital contracture	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0003121	Limb joint contracture	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0006297	Enamel hypoplasia	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0000023	Inguinal hernia	3	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0003549	HP:0000023	Inguinal hernia	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0003549	HP:0001537	Umbilical hernia	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0003549	HP:0002803	Congenital contracture	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003549	HP:0030044	Flexion contracture of digit	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003549	HP:0000023	Inguinal hernia	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0003549	HP:0001537	Umbilical hernia	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent		240
HP:0003549	HP:0003121	Limb joint contracture	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0003549	HP:0030044	Flexion contracture of digit	3	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0003549	HP:0030044	Flexion contracture of digit	3	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0003549	HP:0000023	Inguinal hernia	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0003549	HP:0003121	Limb joint contracture	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0003549	HP:0030044	Flexion contracture of digit	3	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0003549	HP:0000023	Inguinal hernia	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0003549	HP:0001537	Umbilical hernia	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0003549	HP:0000023	Inguinal hernia	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0003549	HP:0001537	Umbilical hernia	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0003549	HP:0001539	Omphalocele	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0003549	HP:0003121	Limb joint contracture	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0030044	Flexion contracture of digit	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0000023	Inguinal hernia	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0003549	HP:0001537	Umbilical hernia	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0003549	HP:0000023	Inguinal hernia	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001539	Omphalocele	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0003549	HP:0003121	Limb joint contracture	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0000023	Inguinal hernia	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003549	HP:0001537	Umbilical hernia	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003549	HP:0001537	Umbilical hernia	3	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0003549	HP:0001537	Umbilical hernia	3	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent		18
HP:0003549	HP:0000023	Inguinal hernia	3	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.		18
HP:0003549	HP:0001537	Umbilical hernia	3	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.		18
HP:0003549	HP:0002828	Multiple joint contractures	3	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0003121	Limb joint contracture	3	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6			3
HP:0003549	HP:0006285	Enamel hypomineralization	3	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6			3
HP:0003549	HP:0006297	Enamel hypoplasia	3	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	.		33
HP:0003549	HP:0003121	Limb joint contracture	3	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0003549	HP:0001537	Umbilical hernia	3	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		108
HP:0003549	HP:0000023	Inguinal hernia	3	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures			274
HP:0003549	HP:0001537	Umbilical hernia	3	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		80
HP:0003549	HP:0001539	Omphalocele	3	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		80
HP:0003549	HP:0001537	Umbilical hernia	3	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		5
HP:0003549	HP:0001537	Umbilical hernia	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0003549	HP:0002828	Multiple joint contractures	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0003549	HP:0006297	Enamel hypoplasia	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0003549	HP:0008887	Adipose tissue loss	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003549	HP:0001537	Umbilical hernia	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0003549	HP:0002828	Multiple joint contractures	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0003549	HP:0006297	Enamel hypoplasia	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0003549	HP:0008887	Adipose tissue loss	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0000023	Inguinal hernia	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0001537	Umbilical hernia	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0000023	Inguinal hernia	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0001537	Umbilical hernia	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0000023	Inguinal hernia	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0001537	Umbilical hernia	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0000023	Inguinal hernia	3	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent		54
HP:0003549	HP:0001537	Umbilical hernia	3	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent		54
HP:0003549	HP:0001537	Umbilical hernia	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0003549	HP:0030044	Flexion contracture of digit	3	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0003549	HP:0000023	Inguinal hernia	3	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional		4
HP:0003549	HP:0001537	Umbilical hernia	3	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional		4
HP:0003549	HP:0001539	Omphalocele	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0003549	HP:0001537	Umbilical hernia	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0003549	HP:0003121	Limb joint contracture	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0030044	Flexion contracture of digit	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0003121	Limb joint contracture	3	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0030044	Flexion contracture of digit	3	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0100578	Lipoatrophy	3	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0001537	Umbilical hernia	3	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent		33
HP:0003549	HP:0001537	Umbilical hernia	3	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional		6
HP:0003549	HP:0000023	Inguinal hernia	3	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		10
HP:0003549	HP:0001537	Umbilical hernia	3	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		10
HP:0003549	HP:0003121	Limb joint contracture	3	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0030044	Flexion contracture of digit	3	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0001537	Umbilical hernia	3	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		21
HP:0003549	HP:0003121	Limb joint contracture	3	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0003549	HP:0000023	Inguinal hernia	3	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0003549	HP:0001539	Omphalocele	3	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:0030044	Flexion contracture of digit	3	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:0000023	Inguinal hernia	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0003549	HP:0001537	Umbilical hernia	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0003549	HP:0001537	Umbilical hernia	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0003549	HP:0006297	Enamel hypoplasia	3	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0003549	HP:0006297	Enamel hypoplasia	3	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0003549	HP:0003121	Limb joint contracture	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis			2
HP:0003549	HP:0000023	Inguinal hernia	3	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		2
HP:0003549	HP:0030044	Flexion contracture of digit	3	HOXD13 CL E G H	3239	5136	OMIM:610713	BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD			25
HP:0003549	HP:0003121	Limb joint contracture	3	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5			25
HP:0003549	HP:0030044	Flexion contracture of digit	3	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5			25
HP:0003549	HP:0003121	Limb joint contracture	3	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V			25
HP:0003549	HP:0030044	Flexion contracture of digit	3	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V			25
HP:0003549	HP:0003121	Limb joint contracture	3	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0030044	Flexion contracture of digit	3	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0001539	Omphalocele	3	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional		25
HP:0003549	HP:0003121	Limb joint contracture	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0003549	HP:0003121	Limb joint contracture	3	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003549	HP:0030044	Flexion contracture of digit	3	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0003549	HP:0003121	Limb joint contracture	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0003549	HP:0030044	Flexion contracture of digit	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0003549	HP:0000023	Inguinal hernia	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0003549	HP:0001537	Umbilical hernia	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0003549	HP:0002803	Congenital contracture	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003549	HP:0003121	Limb joint contracture	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003549	HP:0030044	Flexion contracture of digit	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003549	HP:0000023	Inguinal hernia	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0003549	HP:0001537	Umbilical hernia	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0003549	HP:0003121	Limb joint contracture	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003549	HP:0030044	Flexion contracture of digit	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003549	HP:0030044	Flexion contracture of digit	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0003549	HP:0001539	Omphalocele	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.		31
HP:0003549	HP:0001537	Umbilical hernia	3	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0003549	HP:0001537	Umbilical hernia	3	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0003549	HP:0002803	Congenital contracture	3	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0003549	HP:0002828	Multiple joint contractures	3	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0003549	HP:0000023	Inguinal hernia	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent		86
HP:0003549	HP:0001537	Umbilical hernia	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent		86
HP:0003549	HP:0003121	Limb joint contracture	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0030044	Flexion contracture of digit	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0000023	Inguinal hernia	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent		86
HP:0003549	HP:0001537	Umbilical hernia	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent		86
HP:0003549	HP:0003121	Limb joint contracture	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0030044	Flexion contracture of digit	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0000023	Inguinal hernia	3	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0003549	HP:0001537	Umbilical hernia	3	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0003549	HP:0000023	Inguinal hernia	3	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0003549	HP:0001537	Umbilical hernia	3	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0003549	HP:0003121	Limb joint contracture	3	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0003549	HP:0030044	Flexion contracture of digit	3	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0003549	HP:0000023	Inguinal hernia	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0001537	Umbilical hernia	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.		115
HP:0003549	HP:0003121	Limb joint contracture	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0030044	Flexion contracture of digit	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0100578	Lipoatrophy	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		28
HP:0003549	HP:0002828	Multiple joint contractures	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0003549	HP:0000023	Inguinal hernia	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0003549	HP:0006297	Enamel hypoplasia	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0003549	HP:0001537	Umbilical hernia	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0003549	HP:0001539	Omphalocele	3	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional		65
HP:0003549	HP:0001539	Omphalocele	3	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly	.		2
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0003549	HP:0001539	Omphalocele	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0003549	HP:0000023	Inguinal hernia	3	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional		9
HP:0003549	HP:0001537	Umbilical hernia	3	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional		9
HP:0003549	HP:0000023	Inguinal hernia	3	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0003549	HP:0003121	Limb joint contracture	3	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0003549	HP:0030044	Flexion contracture of digit	3	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0003549	HP:0001537	Umbilical hernia	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0003549	HP:0003121	Limb joint contracture	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0030044	Flexion contracture of digit	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0003121	Limb joint contracture	3	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0003549	HP:0030044	Flexion contracture of digit	3	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0003549	HP:0005876	Progressive flexion contractures	3	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		1
HP:0003549	HP:0000023	Inguinal hernia	3	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		111
HP:0003549	HP:0002803	Congenital contracture	3	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0003549	HP:0003121	Limb joint contracture	3	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0003549	HP:0008887	Adipose tissue loss	3	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent		229
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0003549	HP:0003121	Limb joint contracture	3	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0000023	Inguinal hernia	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0001537	Umbilical hernia	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0003121	Limb joint contracture	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0003121	Limb joint contracture	3	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis			4
HP:0003549	HP:0001537	Umbilical hernia	3	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		99
HP:0003549	HP:0006297	Enamel hypoplasia	3	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional		99
HP:0003549	HP:0000023	Inguinal hernia	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0003549	HP:0006297	Enamel hypoplasia	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0003549	HP:0000023	Inguinal hernia	3	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040282 - Frequent		2
HP:0003549	HP:0001537	Umbilical hernia	3	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent		2
HP:0003549	HP:0001539	Omphalocele	3	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional		2
HP:0003549	HP:0030044	Flexion contracture of digit	3	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0003549	HP:0030044	Flexion contracture of digit	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0003549	HP:0006297	Enamel hypoplasia	3	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent		79
HP:0003549	HP:0003121	Limb joint contracture	3	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0003549	HP:0030044	Flexion contracture of digit	3	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0003549	HP:0001075	Atrophic scars	3	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0003549	HP:0001075	Atrophic scars	3	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0003549	HP:0002803	Congenital contracture	3	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0003549	HP:0006297	Enamel hypoplasia	3	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0003549	HP:0001075	Atrophic scars	3	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		124
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		124
HP:0003549	HP:0006297	Enamel hypoplasia	3	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		124
HP:0003549	HP:0006297	Enamel hypoplasia	3	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent		124
HP:0003549	HP:0003121	Limb joint contracture	3	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040284 - Very rare		124
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		124
HP:0003549	HP:0006297	Enamel hypoplasia	3	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		124
HP:0003549	HP:0009722	Dental enamel pits	3	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		124
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H			8
HP:0003549	HP:0006297	Enamel hypoplasia	3	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H			8
HP:0003549	HP:0009722	Dental enamel pits	3	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H			8
HP:0003549	HP:0001537	Umbilical hernia	3	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		130
HP:0003549	HP:0003121	Limb joint contracture	3	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0003549	HP:0000023	Inguinal hernia	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0001537	Umbilical hernia	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0003121	Limb joint contracture	3	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0003549	HP:0030044	Flexion contracture of digit	3	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0003549	HP:0003121	Limb joint contracture	3	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0003549	HP:0030044	Flexion contracture of digit	3	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0003549	HP:0002803	Congenital contracture	3	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0003549	HP:0003121	Limb joint contracture	3	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0003549	HP:0003121	Limb joint contracture	3	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0003549	HP:0002803	Congenital contracture	3	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0003549	HP:0001537	Umbilical hernia	3	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		145
HP:0003549	HP:0003121	Limb joint contracture	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0003549	HP:0001537	Umbilical hernia	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0003549	HP:0002803	Congenital contracture	3	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0003549	HP:0003121	Limb joint contracture	3	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0003549	HP:0001537	Umbilical hernia	3	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0003549	HP:0006297	Enamel hypoplasia	3	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.		193
HP:0003549	HP:0000292	Loss of facial adipose tissue	3	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0003549	HP:0008887	Adipose tissue loss	3	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0003549	HP:0008887	Adipose tissue loss	3	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0003549	HP:0009059	Congenital generalized lipodystrophy	3	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040280 - Obligate		3
HP:0003549	HP:0009064	Generalized lipodystrophy	3	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.		3
HP:0003549	HP:0001537	Umbilical hernia	3	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		23
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0003549	HP:0002803	Congenital contracture	3	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0003121	Limb joint contracture	3	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0030044	Flexion contracture of digit	3	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0001539	Omphalocele	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0003549	HP:0001539	Omphalocele	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0003549	HP:0000023	Inguinal hernia	3	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional		1
HP:0003549	HP:0000023	Inguinal hernia	3	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0003549	HP:0001537	Umbilical hernia	3	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0003549	HP:0000023	Inguinal hernia	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0003549	HP:0003121	Limb joint contracture	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0030044	Flexion contracture of digit	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0003121	Limb joint contracture	3	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0003549	HP:0030044	Flexion contracture of digit	3	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0003549	HP:0003121	Limb joint contracture	3	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0002803	Congenital contracture	3	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG			4
HP:0003549	HP:0002803	Congenital contracture	3	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0003549	HP:0030044	Flexion contracture of digit	3	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0003549	HP:0002803	Congenital contracture	3	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0003549	HP:0003121	Limb joint contracture	3	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0003549	HP:0003121	Limb joint contracture	3	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0003549	HP:0002803	Congenital contracture	3	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0003549	HP:0000023	Inguinal hernia	3	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional		167
HP:0003549	HP:0000023	Inguinal hernia	3	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0003549	HP:0001537	Umbilical hernia	3	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0003549	HP:0000023	Inguinal hernia	3	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.		167
HP:0003549	HP:0030044	Flexion contracture of digit	3	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003549	HP:0030044	Flexion contracture of digit	3	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0003549	HP:0002828	Multiple joint contractures	3	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040281 - Very frequent		1
HP:0003549	HP:0002803	Congenital contracture	3	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0003549	HP:0002803	Congenital contracture	3	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0003549	HP:0002803	Congenital contracture	3	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0003549	HP:0002803	Congenital contracture	3	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0003549	HP:0002803	Congenital contracture	3	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0003549	HP:0002803	Congenital contracture	3	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0003549	HP:0030044	Flexion contracture of digit	3	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3			42
HP:0003549	HP:0003121	Limb joint contracture	3	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	KLK4 CL E G H	9622	6365	OMIM:204700	Amelogenesis imperfecta, hypomaturation type, iia1	.		6
HP:0003549	HP:0012031	Lipomatous tumor	3	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0003549	HP:0003121	Limb joint contracture	3	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0003549	HP:0030044	Flexion contracture of digit	3	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0003549	HP:0000023	Inguinal hernia	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0003549	HP:0001537	Umbilical hernia	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare		99
HP:0003549	HP:0001537	Umbilical hernia	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0003549	HP:0001537	Umbilical hernia	3	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.		1
HP:0003549	HP:0012031	Lipomatous tumor	3	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0003549	HP:0003121	Limb joint contracture	3	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0003549	HP:0030044	Flexion contracture of digit	3	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0003549	HP:0001075	Atrophic scars	3	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0003549	HP:0006297	Enamel hypoplasia	3	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0003549	HP:0001075	Atrophic scars	3	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional		110
HP:0003549	HP:0001075	Atrophic scars	3	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	HP:0040283 - Occasional		110
HP:0003549	HP:0001075	Atrophic scars	3	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare		110
HP:0003549	HP:0003121	Limb joint contracture	3	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:0006297	Enamel hypoplasia	3	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:0030044	Flexion contracture of digit	3	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:0003121	Limb joint contracture	3	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0003549	HP:0030044	Flexion contracture of digit	3	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0003549	HP:0001075	Atrophic scars	3	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0003549	HP:0006297	Enamel hypoplasia	3	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0003549	HP:0001075	Atrophic scars	3	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	HP:0040283 - Occasional		173
HP:0003549	HP:0001075	Atrophic scars	3	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare		173
HP:0003549	HP:0003121	Limb joint contracture	3	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0003549	HP:0030044	Flexion contracture of digit	3	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0003549	HP:0003121	Limb joint contracture	3	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0003549	HP:0002828	Multiple joint contractures	3	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0003549	HP:0003121	Limb joint contracture	3	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0003549	HP:0003121	Limb joint contracture	3	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0003549	HP:0030044	Flexion contracture of digit	3	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0003549	HP:0003121	Limb joint contracture	3	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0003549	HP:0030044	Flexion contracture of digit	3	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0003549	HP:0003121	Limb joint contracture	3	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0003121	Limb joint contracture	3	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0003549	HP:0001075	Atrophic scars	3	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		116
HP:0003549	HP:0006297	Enamel hypoplasia	3	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		116
HP:0003549	HP:0001075	Atrophic scars	3	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0003549	HP:0006297	Enamel hypoplasia	3	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.		116
HP:0003549	HP:0006297	Enamel hypoplasia	3	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome			116
HP:0003549	HP:0006297	Enamel hypoplasia	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0003549	HP:0100578	Lipoatrophy	3	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		279
HP:0003549	HP:0002803	Congenital contracture	3	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA	.		167
HP:0003549	HP:0001075	Atrophic scars	3	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		167
HP:0003549	HP:0006297	Enamel hypoplasia	3	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		167
HP:0003549	HP:0003121	Limb joint contracture	3	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0006297	Enamel hypoplasia	3	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0030044	Flexion contracture of digit	3	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0001075	Atrophic scars	3	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0003549	HP:0006297	Enamel hypoplasia	3	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0003549	HP:0006297	Enamel hypoplasia	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0003549	HP:0001075	Atrophic scars	3	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		135
HP:0003549	HP:0006297	Enamel hypoplasia	3	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		135
HP:0003549	HP:0001075	Atrophic scars	3	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0003549	HP:0006297	Enamel hypoplasia	3	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0003549	HP:0006297	Enamel hypoplasia	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0003549	HP:0002828	Multiple joint contractures	3	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		136
HP:0003549	HP:0002803	Congenital contracture	3	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0003549	HP:0003121	Limb joint contracture	3	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0003549	HP:0001537	Umbilical hernia	3	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0003549	HP:0003121	Limb joint contracture	3	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0003549	HP:0030044	Flexion contracture of digit	3	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0003549	HP:0100578	Lipoatrophy	3	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		286
HP:0003549	HP:0000023	Inguinal hernia	3	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0003549	HP:0010562	Keloids	3	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003549	HP:0012031	Lipomatous tumor	3	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis			68
HP:0003549	HP:0000023	Inguinal hernia	3	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		13
HP:0003549	HP:0001537	Umbilical hernia	3	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		13
HP:0003549	HP:0003121	Limb joint contracture	3	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0030044	Flexion contracture of digit	3	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0003121	Limb joint contracture	3	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0030044	Flexion contracture of digit	3	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0002803	Congenital contracture	3	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0003549	HP:0003121	Limb joint contracture	3	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0003549	HP:0030044	Flexion contracture of digit	3	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0003549	HP:0001537	Umbilical hernia	3	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		51
HP:0003549	HP:0001537	Umbilical hernia	3	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		43
HP:0003549	HP:0003121	Limb joint contracture	3	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003549	HP:0030044	Flexion contracture of digit	3	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003549	HP:0003121	Limb joint contracture	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0030044	Flexion contracture of digit	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0000023	Inguinal hernia	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0000468	Increased adipose tissue around the neck	3	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040280 - Obligate		7
HP:0003549	HP:0008887	Adipose tissue loss	3	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0003549	HP:0008993	Increased intraabdominal fat	3	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent		7
HP:0003549	HP:0003121	Limb joint contracture	3	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0003549	HP:0030044	Flexion contracture of digit	3	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0003549	HP:0003121	Limb joint contracture	3	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0003549	HP:0030044	Flexion contracture of digit	3	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0003549	HP:0100578	Lipoatrophy	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0003549	HP:0009064	Generalized lipodystrophy	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0003549	HP:0003121	Limb joint contracture	3	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	3	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0003549	HP:0003121	Limb joint contracture	3	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	3	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0003549	HP:0000287	Increased facial adipose tissue	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent		645
HP:0003549	HP:0000468	Increased adipose tissue around the neck	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent		645
HP:0003549	HP:0100578	Lipoatrophy	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent		645
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent		645
HP:0003549	HP:0008887	Adipose tissue loss	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003549	HP:0008993	Increased intraabdominal fat	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent		645
HP:0003549	HP:0003121	Limb joint contracture	3	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0003549	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	3	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0003549	HP:0005997	Neck joint contracture	3	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0003549	HP:0003121	Limb joint contracture	3	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive			645
HP:0003549	HP:0100578	Lipoatrophy	3	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		645
HP:0003549	HP:0100578	Lipoatrophy	3	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent		645
HP:0003549	HP:0008887	Adipose tissue loss	3	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0003549	HP:0100578	Lipoatrophy	3	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040281 - Very frequent		645
HP:0003549	HP:0008887	Adipose tissue loss	3	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0003549	HP:0008887	Adipose tissue loss	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0003549	HP:0000287	Increased facial adipose tissue	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0003549	HP:0000468	Increased adipose tissue around the neck	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0003549	HP:0008887	Adipose tissue loss	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0003549	HP:0008985	Increased intramuscular fat	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0003549	HP:0008993	Increased intraabdominal fat	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0003549	HP:0100578	Lipoatrophy	3	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent		645
HP:0003549	HP:0000287	Increased facial adipose tissue	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0003549	HP:0000468	Increased adipose tissue around the neck	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0003121	Limb joint contracture	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0003549	HP:0008887	Adipose tissue loss	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0030044	Flexion contracture of digit	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0002803	Congenital contracture	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0002828	Multiple joint contractures	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0003549	HP:0003121	Limb joint contracture	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0030044	Flexion contracture of digit	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0100578	Lipoatrophy	3	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040281 - Very frequent		11
HP:0003549	HP:0000292	Loss of facial adipose tissue	3	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0003549	HP:0008887	Adipose tissue loss	3	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0003549	HP:0001537	Umbilical hernia	3	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional
HP:0003549	HP:0001539	Omphalocele	3	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional
HP:0003549	HP:0002803	Congenital contracture	3	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0003549	HP:0002803	Congenital contracture	3	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0003549	HP:0002803	Congenital contracture	3	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0003549	HP:0003121	Limb joint contracture	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0006297	Enamel hypoplasia	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0003549	HP:0030044	Flexion contracture of digit	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0001539	Omphalocele	3	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003549	HP:0006297	Enamel hypoplasia	3	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003549	HP:0000023	Inguinal hernia	3	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		6
HP:0003549	HP:0001075	Atrophic scars	3	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040281 - Very frequent		4
HP:0003549	HP:0001537	Umbilical hernia	3	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0003549	HP:0001537	Umbilical hernia	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent		289
HP:0003549	HP:0001539	Omphalocele	3	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0003549	HP:0001539	Omphalocele	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent		289
HP:0003549	HP:0006297	Enamel hypoplasia	3	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0003549	HP:0006297	Enamel hypoplasia	3	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional		26
HP:0003549	HP:0100578	Lipoatrophy	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0003549	HP:0002828	Multiple joint contractures	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0003549	HP:0000023	Inguinal hernia	3	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0003549	HP:0000023	Inguinal hernia	3	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.		12
HP:0003549	HP:0000023	Inguinal hernia	3	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.		92
HP:0003549	HP:0001537	Umbilical hernia	3	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.		92
HP:0003549	HP:0003121	Limb joint contracture	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0002803	Congenital contracture	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0003549	HP:0001537	Umbilical hernia	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0003549	HP:0000023	Inguinal hernia	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional		21
HP:0003549	HP:0030044	Flexion contracture of digit	3	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0003549	HP:0030044	Flexion contracture of digit	3	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0003549	HP:0030044	Flexion contracture of digit	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0003549	HP:0003121	Limb joint contracture	3	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003549	HP:0030044	Flexion contracture of digit	3	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003549	HP:0002803	Congenital contracture	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0003549	HP:0030044	Flexion contracture of digit	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0003549	HP:0001539	Omphalocele	3	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional		5
HP:0003549	HP:0000023	Inguinal hernia	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0003549	HP:0001537	Umbilical hernia	3	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0003549	HP:0003121	Limb joint contracture	3	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0030044	Flexion contracture of digit	3	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0003121	Limb joint contracture	3	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003549	HP:0010562	Keloids	3	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0003549	HP:0030044	Flexion contracture of digit	3	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003549	HP:0003121	Limb joint contracture	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0003549	HP:0010562	Keloids	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0003549	HP:0030044	Flexion contracture of digit	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0003549	HP:0000023	Inguinal hernia	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0003121	Limb joint contracture	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0030044	Flexion contracture of digit	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0000023	Inguinal hernia	3	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0003549	HP:0001537	Umbilical hernia	3	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0003549	HP:0001537	Umbilical hernia	3	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional		21
HP:0003549	HP:0001539	Omphalocele	3	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0003549	HP:0000023	Inguinal hernia	3	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		13
HP:0003549	HP:0000023	Inguinal hernia	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0003549	HP:0001539	Omphalocele	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0003549	HP:0003121	Limb joint contracture	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0030044	Flexion contracture of digit	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0000023	Inguinal hernia	3	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0003549	HP:0001537	Umbilical hernia	3	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.		22
HP:0003549	HP:0000023	Inguinal hernia	3	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0003549	HP:0003121	Limb joint contracture	3	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0003549	HP:0003121	Limb joint contracture	3	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0003549	HP:0000023	Inguinal hernia	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0003549	HP:0001537	Umbilical hernia	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional		228
HP:0003549	HP:0005876	Progressive flexion contractures	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional		228
HP:0003549	HP:0001537	Umbilical hernia	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0003549	HP:0003121	Limb joint contracture	3	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0003549	HP:0030044	Flexion contracture of digit	3	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0003549	HP:0000023	Inguinal hernia	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0003549	HP:0000023	Inguinal hernia	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0003549	HP:0001537	Umbilical hernia	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0003549	HP:0002828	Multiple joint contractures	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0003549	HP:0003121	Limb joint contracture	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0003549	HP:0030044	Flexion contracture of digit	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0003549	HP:0001537	Umbilical hernia	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0003549	HP:0002803	Congenital contracture	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0003549	HP:0030044	Flexion contracture of digit	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0003549	HP:0000023	Inguinal hernia	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0003549	HP:0003121	Limb joint contracture	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0030044	Flexion contracture of digit	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0001537	Umbilical hernia	3	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0003549	HP:0001539	Omphalocele	3	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0003549	HP:0000023	Inguinal hernia	3	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0003549	HP:0001537	Umbilical hernia	3	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0003549	HP:0001539	Omphalocele	3	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0003549	HP:0003121	Limb joint contracture	3	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0001539	Omphalocele	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:0003549	HP:0003121	Limb joint contracture	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0003121	Limb joint contracture	3	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0003549	HP:0030044	Flexion contracture of digit	3	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0003549	HP:0001537	Umbilical hernia	3	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional		13
HP:0003549	HP:0001537	Umbilical hernia	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional		13
HP:0003549	HP:0003121	Limb joint contracture	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0003549	HP:0030044	Flexion contracture of digit	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0003549	HP:0000023	Inguinal hernia	3	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional		7
HP:0003549	HP:0001031	Subcutaneous lipoma	3	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.		462
HP:0003549	HP:0012031	Lipomatous tumor	3	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0003549	HP:0012031	Lipomatous tumor	3	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0003549	HP:0000023	Inguinal hernia	3	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0003549	HP:0001537	Umbilical hernia	3	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0003549	HP:0003121	Limb joint contracture	3	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0030044	Flexion contracture of digit	3	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0030044	Flexion contracture of digit	3	MET CL E G H	4233	7029	OMIM:620019				375
HP:0003549	HP:0000023	Inguinal hernia	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0001537	Umbilical hernia	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0000023	Inguinal hernia	3	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		11
HP:0003549	HP:0012031	Lipomatous tumor	3	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis			203
HP:0003549	HP:0000023	Inguinal hernia	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0003549	HP:0001537	Umbilical hernia	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0003549	HP:0001539	Omphalocele	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0003549	HP:0000023	Inguinal hernia	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0003549	HP:0001537	Umbilical hernia	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0003549	HP:0001539	Omphalocele	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0003549	HP:0003121	Limb joint contracture	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0030044	Flexion contracture of digit	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0000023	Inguinal hernia	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0001537	Umbilical hernia	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0000023	Inguinal hernia	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003549	HP:0001537	Umbilical hernia	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003549	HP:0001075	Atrophic scars	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		6
HP:0003549	HP:0003121	Limb joint contracture	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0003549	HP:0001075	Atrophic scars	3	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0003549	HP:0006297	Enamel hypoplasia	3	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0003549	HP:0001539	Omphalocele	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0003549	HP:0003121	Limb joint contracture	3	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0030044	Flexion contracture of digit	3	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0001539	Omphalocele	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	MMP20 CL E G H	9313	7167	OMIM:612529	Amelogenesis imperfecta, hypomaturation type, iia2	.		37
HP:0003549	HP:0003121	Limb joint contracture	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0002803	Congenital contracture	3	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0003121	Limb joint contracture	3	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0030044	Flexion contracture of digit	3	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0001537	Umbilical hernia	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0003549	HP:0002828	Multiple joint contractures	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0003549	HP:0006297	Enamel hypoplasia	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0003549	HP:0008887	Adipose tissue loss	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003549	HP:0030044	Flexion contracture of digit	3	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0003549	HP:0012031	Lipomatous tumor	3	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0003549	HP:0012031	Lipomatous tumor	3	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0003549	HP:0001537	Umbilical hernia	3	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		12
HP:0003549	HP:0006297	Enamel hypoplasia	3	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional		12
HP:0003549	HP:0001539	Omphalocele	3	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		183
HP:0003549	HP:0001537	Umbilical hernia	3	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0003549	HP:0002803	Congenital contracture	3	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0003549	HP:0009064	Generalized lipodystrophy	3	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003549	HP:0002803	Congenital contracture	3	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0002803	Congenital contracture	3	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0002828	Multiple joint contractures	3	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0003549	HP:0003121	Limb joint contracture	3	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0003121	Limb joint contracture	3	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0030044	Flexion contracture of digit	3	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0030044	Flexion contracture of digit	3	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0002803	Congenital contracture	3	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B			66
HP:0003549	HP:0003121	Limb joint contracture	3	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B			66
HP:0003549	HP:0030044	Flexion contracture of digit	3	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B			66
HP:0003549	HP:0003121	Limb joint contracture	3	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0003549	HP:0030044	Flexion contracture of digit	3	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0003549	HP:0002803	Congenital contracture	3	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4			66
HP:0003549	HP:0002828	Multiple joint contractures	3	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4	.		66
HP:0003549	HP:0100578	Lipoatrophy	3	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		1143
HP:0003549	HP:0000023	Inguinal hernia	3	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		418
HP:0003549	HP:0001537	Umbilical hernia	3	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional		418
HP:0003549	HP:0001539	Omphalocele	3	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional		418
HP:0003549	HP:0002803	Congenital contracture	3	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.		105
HP:0003549	HP:0000023	Inguinal hernia	3	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0003549	HP:0003121	Limb joint contracture	3	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0005997	Neck joint contracture	3	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0030044	Flexion contracture of digit	3	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0030044	Flexion contracture of digit	3	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3			166
HP:0003549	HP:0000023	Inguinal hernia	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		166
HP:0003549	HP:0001537	Umbilical hernia	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0003549	HP:0002803	Congenital contracture	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0003121	Limb joint contracture	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0030044	Flexion contracture of digit	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0002803	Congenital contracture	3	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0003549	HP:0003121	Limb joint contracture	3	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0003549	HP:0030044	Flexion contracture of digit	3	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0003549	HP:0003121	Limb joint contracture	3	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0003549	HP:0030044	Flexion contracture of digit	3	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0003549	HP:0003121	Limb joint contracture	3	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0003549	HP:0030044	Flexion contracture of digit	3	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0003549	HP:0100578	Lipoatrophy	3	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		452
HP:0003549	HP:0002828	Multiple joint contractures	3	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		1269
HP:0003549	HP:0100578	Lipoatrophy	3	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		1269
HP:0003549	HP:0003121	Limb joint contracture	3	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0003549	HP:0002803	Congenital contracture	3	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7			93
HP:0003549	HP:0002803	Congenital contracture	3	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT			93
HP:0003549	HP:0003121	Limb joint contracture	3	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003549	HP:0003121	Limb joint contracture	3	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0030044	Flexion contracture of digit	3	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0003121	Limb joint contracture	3	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0003549	HP:0030044	Flexion contracture of digit	3	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0003549	HP:0000023	Inguinal hernia	3	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		326
HP:0003549	HP:0001537	Umbilical hernia	3	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional		326
HP:0003549	HP:0001539	Omphalocele	3	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional		326
HP:0003549	HP:0002803	Congenital contracture	3	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0003549	HP:0003121	Limb joint contracture	3	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0003549	HP:0030044	Flexion contracture of digit	3	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0003549	HP:0002803	Congenital contracture	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0003549	HP:0002803	Congenital contracture	3	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0002828	Multiple joint contractures	3	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0003549	HP:0003121	Limb joint contracture	3	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0030044	Flexion contracture of digit	3	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0002803	Congenital contracture	3	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0003549	HP:0002828	Multiple joint contractures	3	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040282 - Frequent		75
HP:0003549	HP:0003121	Limb joint contracture	3	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0003549	HP:0002803	Congenital contracture	3	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0003549	HP:0100578	Lipoatrophy	3	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		217
HP:0003549	HP:0003121	Limb joint contracture	3	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0003549	HP:0030044	Flexion contracture of digit	3	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0003549	HP:0003121	Limb joint contracture	3	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0003549	HP:0030044	Flexion contracture of digit	3	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0003549	HP:0000023	Inguinal hernia	3	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional		23
HP:0003549	HP:0000023	Inguinal hernia	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0003549	HP:0001537	Umbilical hernia	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0003549	HP:0000023	Inguinal hernia	3	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0003549	HP:0001537	Umbilical hernia	3	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0003549	HP:0002803	Congenital contracture	3	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0003549	HP:0003121	Limb joint contracture	3	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0003549	HP:0030044	Flexion contracture of digit	3	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0003549	HP:0003121	Limb joint contracture	3	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0003549	HP:0030044	Flexion contracture of digit	3	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0003549	HP:0003121	Limb joint contracture	3	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0003549	HP:0030044	Flexion contracture of digit	3	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0003549	HP:0003121	Limb joint contracture	3	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0003549	HP:0000023	Inguinal hernia	3	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY	.		1
HP:0003549	HP:0000023	Inguinal hernia	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0003549	HP:0001537	Umbilical hernia	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0003549	HP:0012031	Lipomatous tumor	3	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0003549	HP:0002828	Multiple joint contractures	3	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0003549	HP:0000023	Inguinal hernia	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0003549	HP:0009112	Aplasia of the left hemidiaphragm	3	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0003549	HP:0002803	Congenital contracture	3	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0003549	HP:0002803	Congenital contracture	3	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0003549	HP:0003121	Limb joint contracture	3	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0003549	HP:0002803	Congenital contracture	3	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0003549	HP:0002803	Congenital contracture	3	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0003549	HP:0002803	Congenital contracture	3	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0003549	HP:0002803	Congenital contracture	3	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0003549	HP:0001537	Umbilical hernia	3	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		4
HP:0003549	HP:0006297	Enamel hypoplasia	3	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0003549	HP:0003121	Limb joint contracture	3	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0003549	HP:0030044	Flexion contracture of digit	3	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0003549	HP:0002803	Congenital contracture	3	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0003549	HP:0030044	Flexion contracture of digit	3	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0003549	HP:0001539	Omphalocele	3	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0003549	HP:0000023	Inguinal hernia	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional		43
HP:0003549	HP:0001537	Umbilical hernia	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional		43
HP:0003549	HP:0000023	Inguinal hernia	3	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0003549	HP:0001537	Umbilical hernia	3	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0003549	HP:0000023	Inguinal hernia	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0003549	HP:0001537	Umbilical hernia	3	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0003549	HP:0100578	Lipoatrophy	3	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		167
HP:0003549	HP:0006297	Enamel hypoplasia	3	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040282 - Frequent		1952
HP:0003549	HP:0000023	Inguinal hernia	3	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.		12
HP:0003549	HP:0001537	Umbilical hernia	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0003549	HP:0001539	Omphalocele	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0003549	HP:0003121	Limb joint contracture	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0003549	HP:0000023	Inguinal hernia	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0003549	HP:0003121	Limb joint contracture	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0003549	HP:0030044	Flexion contracture of digit	3	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0003549	HP:0001537	Umbilical hernia	3	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent		90
HP:0003549	HP:0100837	Atrophodermia vermiculata	3	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP			37
HP:0003549	HP:0003121	Limb joint contracture	3	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0030044	Flexion contracture of digit	3	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0003121	Limb joint contracture	3	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0003549	HP:0003121	Limb joint contracture	3	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0030044	Flexion contracture of digit	3	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0003549	HP:0030044	Flexion contracture of digit	3	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0003121	Limb joint contracture	3	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0003549	HP:0030044	Flexion contracture of digit	3	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0003549	HP:0000023	Inguinal hernia	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional		452
HP:0003549	HP:0001537	Umbilical hernia	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional		452
HP:0003549	HP:0000023	Inguinal hernia	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0003549	HP:0000023	Inguinal hernia	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0003549	HP:0001537	Umbilical hernia	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0003549	HP:0001537	Umbilical hernia	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0003549	HP:0000023	Inguinal hernia	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent		144
HP:0003549	HP:0000023	Inguinal hernia	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0003549	HP:0001537	Umbilical hernia	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent		144
HP:0003549	HP:0001537	Umbilical hernia	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0003549	HP:0000023	Inguinal hernia	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0003549	HP:0009112	Aplasia of the left hemidiaphragm	3	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0003549	HP:0025383	Dorsocervical fat pad	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0003549	HP:0005876	Progressive flexion contractures	3	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		27
HP:0003549	HP:0002803	Congenital contracture	3	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0003549	HP:0000023	Inguinal hernia	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0003549	HP:0001537	Umbilical hernia	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0003549	HP:0003121	Limb joint contracture	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0030044	Flexion contracture of digit	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0000023	Inguinal hernia	3	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		544
HP:0003549	HP:0003121	Limb joint contracture	3	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0030044	Flexion contracture of digit	3	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0001537	Umbilical hernia	3	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.		34
HP:0003549	HP:0030044	Flexion contracture of digit	3	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003549	HP:0003121	Limb joint contracture	3	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0003549	HP:0003121	Limb joint contracture	3	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0003549	HP:0030044	Flexion contracture of digit	3	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0003549	HP:0003121	Limb joint contracture	3	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0030044	Flexion contracture of digit	3	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0003121	Limb joint contracture	3	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:0006297	Enamel hypoplasia	3	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8	.		1
HP:0003549	HP:0030044	Flexion contracture of digit	3	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0003549	HP:0002803	Congenital contracture	3	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0002828	Multiple joint contractures	3	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0003549	HP:0003121	Limb joint contracture	3	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0030044	Flexion contracture of digit	3	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0002803	Congenital contracture	3	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0003549	HP:0030044	Flexion contracture of digit	3	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0003549	HP:0000023	Inguinal hernia	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0001537	Umbilical hernia	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		2
HP:0003549	HP:0003121	Limb joint contracture	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0030044	Flexion contracture of digit	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0001539	Omphalocele	3	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0003549	HP:0002933	Ventral hernia	3	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0003549	HP:0030044	Flexion contracture of digit	3	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0003549	HP:0001537	Umbilical hernia	3	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0003549	HP:0001537	Umbilical hernia	3	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2	HP:0040283 - Occasional		88
HP:0003549	HP:0003121	Limb joint contracture	3	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:0006297	Enamel hypoplasia	3	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0003549	HP:0030044	Flexion contracture of digit	3	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:0000023	Inguinal hernia	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0003549	HP:0001537	Umbilical hernia	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4	.		6
HP:0003549	HP:0006285	Enamel hypomineralization	3	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4	.		6
HP:0003549	HP:0006297	Enamel hypoplasia	3	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4	.		6
HP:0003549	HP:0000023	Inguinal hernia	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0006297	Enamel hypoplasia	3	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0003549	HP:0000023	Inguinal hernia	3	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0003549	HP:0003121	Limb joint contracture	3	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.		19
HP:0003549	HP:0003121	Limb joint contracture	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0003549	HP:0030044	Flexion contracture of digit	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0003549	HP:0003121	Limb joint contracture	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0003549	HP:0030044	Flexion contracture of digit	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0003549	HP:0003121	Limb joint contracture	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0003549	HP:0030044	Flexion contracture of digit	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0003549	HP:0030044	Flexion contracture of digit	3	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0003549	HP:0003121	Limb joint contracture	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0003549	HP:0030044	Flexion contracture of digit	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0003549	HP:0003121	Limb joint contracture	3	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0003549	HP:0002803	Congenital contracture	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003549	HP:0003121	Limb joint contracture	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:0003549	HP:0000023	Inguinal hernia	3	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0003549	HP:0003121	Limb joint contracture	3	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0003549	HP:0000023	Inguinal hernia	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0003549	HP:0001537	Umbilical hernia	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0003549	HP:0000023	Inguinal hernia	3	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional		231
HP:0003549	HP:0001539	Omphalocele	3	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional		231
HP:0003549	HP:0006297	Enamel hypoplasia	3	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0003549	HP:0001537	Umbilical hernia	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0003549	HP:0003121	Limb joint contracture	3	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0003549	HP:0030044	Flexion contracture of digit	3	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0003549	HP:0003121	Limb joint contracture	3	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0003549	HP:0030044	Flexion contracture of digit	3	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0003549	HP:0003121	Limb joint contracture	3	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0003549	HP:0030044	Flexion contracture of digit	3	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0003549	HP:0002803	Congenital contracture	3	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0003549	HP:0001537	Umbilical hernia	3	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.		63
HP:0003549	HP:0001537	Umbilical hernia	3	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent		63
HP:0003549	HP:0006297	Enamel hypoplasia	3	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional		58
HP:0003549	HP:0006297	Enamel hypoplasia	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0003549	HP:0025383	Dorsocervical fat pad	3	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0003549	HP:0025383	Dorsocervical fat pad	3	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0003549	HP:0025383	Dorsocervical fat pad	3	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0003549	HP:0100578	Lipoatrophy	3	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.		28
HP:0003549	HP:0003121	Limb joint contracture	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0002803	Congenital contracture	3	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0003549	HP:0003121	Limb joint contracture	3	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0003549	HP:0030044	Flexion contracture of digit	3	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0003549	HP:0003121	Limb joint contracture	3	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:0030044	Flexion contracture of digit	3	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1	.		169
HP:0003549	HP:0006297	Enamel hypoplasia	3	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1	.		169
HP:0003549	HP:0030044	Flexion contracture of digit	3	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0003549	HP:0003121	Limb joint contracture	3	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0003549	HP:0030044	Flexion contracture of digit	3	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0003549	HP:0005781	Contractures of the large joints	3	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0003549	HP:0003121	Limb joint contracture	3	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:0030044	Flexion contracture of digit	3	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2			98
HP:0003549	HP:0006297	Enamel hypoplasia	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0003549	HP:0006285	Enamel hypomineralization	3	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0003549	HP:0000694	Odontodysplasia	3	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0003549	HP:0003121	Limb joint contracture	3	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0003549	HP:0030044	Flexion contracture of digit	3	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0003549	HP:0000023	Inguinal hernia	3	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional		37
HP:0003549	HP:0001537	Umbilical hernia	3	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional		37
HP:0003549	HP:0003121	Limb joint contracture	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0003549	HP:0007525	Yellow subcutaneous tissue covered by thin, scaly skin	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0003549	HP:0030044	Flexion contracture of digit	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0003549	HP:0002803	Congenital contracture	3	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0003549	HP:0001539	Omphalocele	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		11
HP:0003549	HP:0003121	Limb joint contracture	3	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0003549	HP:0002803	Congenital contracture	3	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0003549	HP:0003121	Limb joint contracture	3	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0003549	HP:0003121	Limb joint contracture	3	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0003549	HP:0002803	Congenital contracture	3	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0003121	Limb joint contracture	3	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0030044	Flexion contracture of digit	3	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0002803	Congenital contracture	3	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0003121	Limb joint contracture	3	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0030044	Flexion contracture of digit	3	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0030044	Flexion contracture of digit	3	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0003549	HP:0000023	Inguinal hernia	3	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent		77
HP:0003549	HP:0002803	Congenital contracture	3	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0003121	Limb joint contracture	3	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0030044	Flexion contracture of digit	3	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0003121	Limb joint contracture	3	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0003549	HP:0030044	Flexion contracture of digit	3	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0003549	HP:0000023	Inguinal hernia	3	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0003549	HP:0002803	Congenital contracture	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0002803	Congenital contracture	3	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0003549	HP:0003121	Limb joint contracture	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0003121	Limb joint contracture	3	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0003549	HP:0030044	Flexion contracture of digit	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0030044	Flexion contracture of digit	3	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0003549	HP:0003121	Limb joint contracture	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0003549	HP:0003121	Limb joint contracture	3	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0003549	HP:0003121	Limb joint contracture	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0030044	Flexion contracture of digit	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0001539	Omphalocele	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional		37
HP:0003549	HP:0003121	Limb joint contracture	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0003549	HP:0030044	Flexion contracture of digit	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0003549	HP:0001537	Umbilical hernia	3	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0003549	HP:0001537	Umbilical hernia	3	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0003549	HP:0000023	Inguinal hernia	3	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0003549	HP:0000023	Inguinal hernia	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003549	HP:0001537	Umbilical hernia	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003549	HP:0002803	Congenital contracture	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003549	HP:0002828	Multiple joint contractures	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003549	HP:0000023	Inguinal hernia	3	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:0003121	Limb joint contracture	3	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:0006297	Enamel hypoplasia	3	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0003549	HP:0012031	Lipomatous tumor	3	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0003549	HP:0012031	Lipomatous tumor	3	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0003549	HP:0001031	Subcutaneous lipoma	3	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0003549	HP:0012031	Lipomatous tumor	3	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0003549	HP:0100578	Lipoatrophy	3	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional		162
HP:0003549	HP:0012031	Lipomatous tumor	3	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0003549	HP:0001537	Umbilical hernia	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0003549	HP:0001537	Umbilical hernia	3	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.		9
HP:0003549	HP:0000023	Inguinal hernia	3	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent		43
HP:0003549	HP:0000023	Inguinal hernia	3	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0003549	HP:0100578	Lipoatrophy	3	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0003549	HP:0003121	Limb joint contracture	3	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0003549	HP:0002803	Congenital contracture	3	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3			1
HP:0003549	HP:0002828	Multiple joint contractures	3	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3	.		1
HP:0003549	HP:0003121	Limb joint contracture	3	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly			8
HP:0003549	HP:0030044	Flexion contracture of digit	3	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly			8
HP:0003549	HP:0005781	Contractures of the large joints	3	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0003549	HP:0005781	Contractures of the large joints	3	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0003549	HP:0000023	Inguinal hernia	3	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		3
HP:0003549	HP:0001537	Umbilical hernia	3	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0003549	HP:0001537	Umbilical hernia	3	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0003549	HP:0000023	Inguinal hernia	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.		4
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.		759
HP:0003549	HP:0006297	Enamel hypoplasia	3	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.		759
HP:0003549	HP:0001075	Atrophic scars	3	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0003549	HP:0001075	Atrophic scars	3	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0003549	HP:0002803	Congenital contracture	3	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0003549	HP:0006297	Enamel hypoplasia	3	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0003549	HP:0003121	Limb joint contracture	3	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0003549	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	3	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040284 - Very rare		759
HP:0003549	HP:0003121	Limb joint contracture	3	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0003549	HP:0100578	Lipoatrophy	3	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4	.		19
HP:0003549	HP:0100578	Lipoatrophy	3	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate		19
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040281 - Very frequent		19
HP:0003549	HP:0008887	Adipose tissue loss	3	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0003549	HP:0100578	Lipoatrophy	3	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		57
HP:0003549	HP:0000023	Inguinal hernia	3	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0003549	HP:0000023	Inguinal hernia	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0003549	HP:0001075	Atrophic scars	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040282 - Frequent		105
HP:0003549	HP:0001537	Umbilical hernia	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0003549	HP:0003121	Limb joint contracture	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003549	HP:0002803	Congenital contracture	3	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0003549	HP:0000023	Inguinal hernia	3	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.		45
HP:0003549	HP:0003121	Limb joint contracture	3	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0003549	HP:0003121	Limb joint contracture	3	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0030044	Flexion contracture of digit	3	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0002803	Congenital contracture	3	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0003549	HP:0002828	Multiple joint contractures	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0003549	HP:0003121	Limb joint contracture	3	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0003549	HP:0001537	Umbilical hernia	3	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		244
HP:0003549	HP:0003121	Limb joint contracture	3	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0003549	HP:0000023	Inguinal hernia	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0003549	HP:0002933	Ventral hernia	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0003549	HP:0000023	Inguinal hernia	3	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0003549	HP:0000292	Loss of facial adipose tissue	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0003549	HP:0100578	Lipoatrophy	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0003549	HP:0100578	Lipoatrophy	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0003549	HP:0003121	Limb joint contracture	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0003549	HP:0008887	Adipose tissue loss	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0008887	Adipose tissue loss	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0009003	Increased subcutaneous truncal adipose tissue	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0003549	HP:0009059	Congenital generalized lipodystrophy	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0003549	HP:0030044	Flexion contracture of digit	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0001537	Umbilical hernia	3	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0003121	Limb joint contracture	3	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0030044	Flexion contracture of digit	3	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0002828	Multiple joint contractures	3	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		213
HP:0003549	HP:0003121	Limb joint contracture	3	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0003549	HP:0002803	Congenital contracture	3	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0003549	HP:0002828	Multiple joint contractures	3	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		221
HP:0003549	HP:0002803	Congenital contracture	3	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0003549	HP:0002803	Congenital contracture	3	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.		221
HP:0003549	HP:0003121	Limb joint contracture	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0003549	HP:0030044	Flexion contracture of digit	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0003549	HP:0030044	Flexion contracture of digit	3	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0003549	HP:0003121	Limb joint contracture	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0003549	HP:0030044	Flexion contracture of digit	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0003549	HP:0000023	Inguinal hernia	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional		20
HP:0003549	HP:0000023	Inguinal hernia	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0003549	HP:0001537	Umbilical hernia	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional		20
HP:0003549	HP:0001537	Umbilical hernia	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0003549	HP:0001539	Omphalocele	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0003549	HP:0001539	Omphalocele	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional		20
HP:0003549	HP:0003121	Limb joint contracture	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:0006297	Enamel hypoplasia	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0003549	HP:0030044	Flexion contracture of digit	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:0001537	Umbilical hernia	3	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		36
HP:0003549	HP:0008887	Adipose tissue loss	3	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		42
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0003549	HP:0008887	Adipose tissue loss	3	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0003549	HP:0000292	Loss of facial adipose tissue	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional		42
HP:0003549	HP:0100578	Lipoatrophy	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040280 - Obligate		42
HP:0003549	HP:0008887	Adipose tissue loss	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0003549	HP:0100578	Lipoatrophy	3	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0003549	HP:0025195	Central diaphragmatic hernia	3	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0003549	HP:0001539	Omphalocele	3	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0003549	HP:0025383	Dorsocervical fat pad	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0000023	Inguinal hernia	3	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.		2
HP:0003549	HP:0001537	Umbilical hernia	3	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.		2
HP:0003549	HP:0000023	Inguinal hernia	3	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional		13
HP:0003549	HP:0001539	Omphalocele	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare
HP:0003549	HP:0003121	Limb joint contracture	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0030044	Flexion contracture of digit	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0002803	Congenital contracture	3	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development			2
HP:0003549	HP:0003121	Limb joint contracture	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0003549	HP:0030044	Flexion contracture of digit	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0003549	HP:0003121	Limb joint contracture	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0003549	HP:0030044	Flexion contracture of digit	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0003549	HP:0100578	Lipoatrophy	3	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		148
HP:0003549	HP:0030044	Flexion contracture of digit	3	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0003549	HP:0000023	Inguinal hernia	3	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional		58
HP:0003549	HP:0001537	Umbilical hernia	3	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional		58
HP:0003549	HP:0002803	Congenital contracture	3	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0003121	Limb joint contracture	3	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0030044	Flexion contracture of digit	3	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0003121	Limb joint contracture	3	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0030044	Flexion contracture of digit	3	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0008887	Adipose tissue loss	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0003549	HP:0025383	Dorsocervical fat pad	3	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.		2
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0003549	HP:0025383	Dorsocervical fat pad	3	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0003549	HP:0025383	Dorsocervical fat pad	3	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0003549	HP:0025383	Dorsocervical fat pad	3	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0003549	HP:0003121	Limb joint contracture	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0000023	Inguinal hernia	3	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		41
HP:0003549	HP:0001537	Umbilical hernia	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003549	HP:0030044	Flexion contracture of digit	3	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0003549	HP:0030044	Flexion contracture of digit	3	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003549	HP:0001537	Umbilical hernia	3	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		54
HP:0003549	HP:0001537	Umbilical hernia	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0003549	HP:0003121	Limb joint contracture	3	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional		27
HP:0003549	HP:0100578	Lipoatrophy	3	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		241
HP:0003549	HP:0100578	Lipoatrophy	3	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		59
HP:0003549	HP:0000292	Loss of facial adipose tissue	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0003121	Limb joint contracture	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0008887	Adipose tissue loss	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0003549	HP:0030044	Flexion contracture of digit	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0009064	Generalized lipodystrophy	3	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0003549	HP:0003121	Limb joint contracture	3	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0003549	HP:0001539	Omphalocele	3	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0003549	HP:0001537	Umbilical hernia	3	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0003549	HP:0000023	Inguinal hernia	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent		6
HP:0003549	HP:0000023	Inguinal hernia	3	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0003549	HP:0100541	Femoral hernia	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent		6
HP:0003549	HP:0003121	Limb joint contracture	3	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:0012031	Lipomatous tumor	3	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0003549	HP:0012031	Lipomatous tumor	3	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0003549	HP:0001031	Subcutaneous lipoma	3	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0003549	HP:0012031	Lipomatous tumor	3	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0003549	HP:0001031	Subcutaneous lipoma	3	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040284 - Very rare		948
HP:0003549	HP:0012031	Lipomatous tumor	3	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0003549	HP:0012031	Lipomatous tumor	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0003549	HP:0001031	Subcutaneous lipoma	3	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent		948
HP:0003549	HP:0012031	Lipomatous tumor	3	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.		22
HP:0003549	HP:0003121	Limb joint contracture	3	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0003549	HP:0003121	Limb joint contracture	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0003549	HP:0000023	Inguinal hernia	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0003549	HP:0000023	Inguinal hernia	3	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0003549	HP:0000023	Inguinal hernia	3	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0003549	HP:0003121	Limb joint contracture	3	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003549	HP:0003121	Limb joint contracture	3	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0030044	Flexion contracture of digit	3	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0001537	Umbilical hernia	3	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional		31
HP:0003549	HP:0001537	Umbilical hernia	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0003549	HP:0001539	Omphalocele	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0003549	HP:0003121	Limb joint contracture	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0003549	HP:0030044	Flexion contracture of digit	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0003549	HP:0003121	Limb joint contracture	3	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0030044	Flexion contracture of digit	3	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0000023	Inguinal hernia	3	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0003549	HP:0001537	Umbilical hernia	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0003549	HP:0001537	Umbilical hernia	3	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0003549	HP:0033785	Enamel agenesis	3	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0003549	HP:0001537	Umbilical hernia	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0003549	HP:0001537	Umbilical hernia	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0003549	HP:0100578	Lipoatrophy	3	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		212
HP:0003549	HP:0002803	Congenital contracture	3	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0002828	Multiple joint contractures	3	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0003549	HP:0003121	Limb joint contracture	3	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0030044	Flexion contracture of digit	3	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0002803	Congenital contracture	3	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0003549	HP:0003121	Limb joint contracture	3	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0003549	HP:0100578	Lipoatrophy	3	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		363
HP:0003549	HP:0003121	Limb joint contracture	3	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0003549	HP:0100578	Lipoatrophy	3	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0002828	Multiple joint contractures	3	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0002803	Congenital contracture	3	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0003549	HP:0003121	Limb joint contracture	3	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0003549	HP:0006285	Enamel hypomineralization	3	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0003549	HP:0003121	Limb joint contracture	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0003549	HP:0030044	Flexion contracture of digit	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0003549	HP:0002803	Congenital contracture	3	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0003549	HP:0002828	Multiple joint contractures	3	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0003549	HP:0000023	Inguinal hernia	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0002803	Congenital contracture	3	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0003549	HP:0001537	Umbilical hernia	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0003549	HP:0006297	Enamel hypoplasia	3	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0003549	HP:0000023	Inguinal hernia	3	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0003549	HP:0030044	Flexion contracture of digit	3	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0003549	HP:0001537	Umbilical hernia	3	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	HP:0040283 - Occasional		43
HP:0003549	HP:0001537	Umbilical hernia	3	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040282 - Frequent		43
HP:0003549	HP:0000023	Inguinal hernia	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0003549	HP:0001539	Omphalocele	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0003549	HP:0002803	Congenital contracture	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0003549	HP:0000023	Inguinal hernia	3	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		3
HP:0003549	HP:0001537	Umbilical hernia	3	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		3
HP:0003549	HP:0003121	Limb joint contracture	3	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0030044	Flexion contracture of digit	3	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0003121	Limb joint contracture	3	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003549	HP:0100578	Lipoatrophy	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		33
HP:0003549	HP:0002828	Multiple joint contractures	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0003549	HP:0100578	Lipoatrophy	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		34
HP:0003549	HP:0002828	Multiple joint contractures	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0003549	HP:0100578	Lipoatrophy	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		60
HP:0003549	HP:0002828	Multiple joint contractures	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0003549	HP:0001537	Umbilical hernia	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0003549	HP:0002828	Multiple joint contractures	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0003549	HP:0006297	Enamel hypoplasia	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0003549	HP:0008887	Adipose tissue loss	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003549	HP:0000023	Inguinal hernia	3	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0003549	HP:0000023	Inguinal hernia	3	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0003549	HP:0012031	Lipomatous tumor	3	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0003549	HP:0003121	Limb joint contracture	3	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0003549	HP:0003121	Limb joint contracture	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0003549	HP:0003121	Limb joint contracture	3	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0003549	HP:0003121	Limb joint contracture	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0003549	HP:0100578	Lipoatrophy	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0003549	HP:0002828	Multiple joint contractures	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		57
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.		57
HP:0003549	HP:0006297	Enamel hypoplasia	3	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.		57
HP:0003549	HP:0000023	Inguinal hernia	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0003549	HP:0001537	Umbilical hernia	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		120
HP:0003549	HP:0003121	Limb joint contracture	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0030044	Flexion contracture of digit	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0003121	Limb joint contracture	3	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0003549	HP:0030044	Flexion contracture of digit	3	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0003549	HP:0000023	Inguinal hernia	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0003549	HP:0001537	Umbilical hernia	3	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0003549	HP:0000023	Inguinal hernia	3	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		167
HP:0003549	HP:0000023	Inguinal hernia	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0003121	Limb joint contracture	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0030044	Flexion contracture of digit	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0000023	Inguinal hernia	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:0003549	HP:0003121	Limb joint contracture	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003549	HP:0012031	Lipomatous tumor	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003549	HP:0003121	Limb joint contracture	3	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0003549	HP:0012031	Lipomatous tumor	3	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0003549	HP:0030044	Flexion contracture of digit	3	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0003549	HP:0025194	Morgagni diaphragmatic hernia	3	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0003549	HP:0000023	Inguinal hernia	3	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0003549	HP:0000139	Uterine prolapse	3	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0003549	HP:0000023	Inguinal hernia	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0001537	Umbilical hernia	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0003549	HP:0001537	Umbilical hernia	3	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0003549	HP:0001539	Omphalocele	3	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0003549	HP:0000023	Inguinal hernia	3	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0003549	HP:0001539	Omphalocele	3	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0003549	HP:0030044	Flexion contracture of digit	3	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0003549	HP:0001539	Omphalocele	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:0003549	HP:0003121	Limb joint contracture	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003549	HP:0030044	Flexion contracture of digit	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003549	HP:0002828	Multiple joint contractures	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent		113
HP:0003549	HP:0003121	Limb joint contracture	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0030044	Flexion contracture of digit	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0006297	Enamel hypoplasia	3	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0003549	HP:0003121	Limb joint contracture	3	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0003549	HP:0002828	Multiple joint contractures	3	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent		1200
HP:0003549	HP:0003121	Limb joint contracture	3	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0003549	HP:0002828	Multiple joint contractures	3	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent		1200
HP:0003549	HP:0003121	Limb joint contracture	3	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0003549	HP:0001537	Umbilical hernia	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0003549	HP:0030044	Flexion contracture of digit	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0003549	HP:0100578	Lipoatrophy	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		55
HP:0003549	HP:0002828	Multiple joint contractures	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0003549	HP:0006297	Enamel hypoplasia	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0003549	HP:0000023	Inguinal hernia	3	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0003549	HP:0030044	Flexion contracture of digit	3	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0003549	HP:0003121	Limb joint contracture	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0030044	Flexion contracture of digit	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0001537	Umbilical hernia	3	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		126
HP:0003549	HP:0001537	Umbilical hernia	3	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		427
HP:0003549	HP:0100578	Lipoatrophy	3	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		1134
HP:0003549	HP:0006297	Enamel hypoplasia	3	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0003549	HP:0002803	Congenital contracture	3	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0003549	HP:0003121	Limb joint contracture	3	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003549	HP:0100578	Lipoatrophy	3	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		304
HP:0003549	HP:0003121	Limb joint contracture	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0003549	HP:0003121	Limb joint contracture	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0003549	HP:0012031	Lipomatous tumor	3	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0003549	HP:0003121	Limb joint contracture	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0003549	HP:0012031	Lipomatous tumor	3	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0003549	HP:0012031	Lipomatous tumor	3	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0003549	HP:0003121	Limb joint contracture	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0003549	HP:0012031	Lipomatous tumor	3	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0003549	HP:0000023	Inguinal hernia	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0001537	Umbilical hernia	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0000023	Inguinal hernia	3	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0003549	HP:0001537	Umbilical hernia	3	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0003549	HP:0002828	Multiple joint contractures	3	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		144
HP:0003549	HP:0003121	Limb joint contracture	3	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0003549	HP:0030044	Flexion contracture of digit	3	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0003549	HP:0003121	Limb joint contracture	3	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0003549	HP:0003121	Limb joint contracture	3	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0003549	HP:0000023	Inguinal hernia	3	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional		6
HP:0003549	HP:0003121	Limb joint contracture	3	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.		66
HP:0003549	HP:0000023	Inguinal hernia	3	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0003549	HP:0000023	Inguinal hernia	3	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0003549	HP:0000023	Inguinal hernia	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0003549	HP:0001537	Umbilical hernia	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0003549	HP:0030044	Flexion contracture of digit	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0003549	HP:0000023	Inguinal hernia	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0003549	HP:0001537	Umbilical hernia	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0003549	HP:0003121	Limb joint contracture	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0030044	Flexion contracture of digit	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0003121	Limb joint contracture	3	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3			132
HP:0003549	HP:0003121	Limb joint contracture	3	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0003549	HP:0100578	Lipoatrophy	3	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		223
HP:0003549	HP:0003121	Limb joint contracture	3	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0003549	HP:0000023	Inguinal hernia	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0003549	HP:0001537	Umbilical hernia	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0003549	HP:0000023	Inguinal hernia	3	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040283 - Occasional		134
HP:0003549	HP:0001537	Umbilical hernia	3	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040283 - Occasional		134
HP:0003549	HP:0003121	Limb joint contracture	3	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0030044	Flexion contracture of digit	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0003549	HP:0030044	Flexion contracture of digit	3	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0001537	Umbilical hernia	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0003549	HP:0003121	Limb joint contracture	3	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0003549	HP:0030044	Flexion contracture of digit	3	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0003549	HP:0000023	Inguinal hernia	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0003549	HP:0000023	Inguinal hernia	3	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0003549	HP:0002803	Congenital contracture	3	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0003549	HP:0003121	Limb joint contracture	3	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0003549	HP:0001537	Umbilical hernia	3	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		11
HP:0003549	HP:0003121	Limb joint contracture	3	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003549	HP:0000023	Inguinal hernia	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0003121	Limb joint contracture	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0030044	Flexion contracture of digit	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0003121	Limb joint contracture	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0003549	HP:0030044	Flexion contracture of digit	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0003549	HP:0000023	Inguinal hernia	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0001537	Umbilical hernia	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0003121	Limb joint contracture	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0030044	Flexion contracture of digit	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0000023	Inguinal hernia	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		150
HP:0003549	HP:0001537	Umbilical hernia	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		150
HP:0003549	HP:0003121	Limb joint contracture	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0030044	Flexion contracture of digit	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0000023	Inguinal hernia	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0003549	HP:0000023	Inguinal hernia	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0003549	HP:0000023	Inguinal hernia	3	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0003549	HP:0003121	Limb joint contracture	3	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003549	HP:0003121	Limb joint contracture	3	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		73
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta	.		73
HP:0003549	HP:0002803	Congenital contracture	3	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0002828	Multiple joint contractures	3	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0003549	HP:0003121	Limb joint contracture	3	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0030044	Flexion contracture of digit	3	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0003121	Limb joint contracture	3	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic			2
HP:0003549	HP:0002803	Congenital contracture	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0003549	HP:0003121	Limb joint contracture	3	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0003549	HP:0002828	Multiple joint contractures	3	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	SLC24A4 CL E G H	123041	10978	OMIM:615887	Amelogenesis imperfecta, hypomaturation type, iia5	.		4
HP:0003549	HP:0002803	Congenital contracture	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0003549	HP:0003121	Limb joint contracture	3	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)			36
HP:0003549	HP:0001537	Umbilical hernia	3	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0003549	HP:0001537	Umbilical hernia	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003549	HP:0001537	Umbilical hernia	3	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0003549	HP:0100578	Lipoatrophy	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0003549	HP:0003121	Limb joint contracture	3	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0003549	HP:0002803	Congenital contracture	3	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0003549	HP:0003121	Limb joint contracture	3	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0003549	HP:0001537	Umbilical hernia	3	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040282 - Frequent		166
HP:0003549	HP:0100541	Femoral hernia	3	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040282 - Frequent		166
HP:0003549	HP:0000023	Inguinal hernia	3	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0003549	HP:0001537	Umbilical hernia	3	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0003549	HP:0003121	Limb joint contracture	3	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0003549	HP:0030044	Flexion contracture of digit	3	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0003549	HP:0003121	Limb joint contracture	3	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0003549	HP:0003121	Limb joint contracture	3	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003549	HP:0030044	Flexion contracture of digit	3	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003549	HP:0003121	Limb joint contracture	3	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0030044	Flexion contracture of digit	3	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0030044	Flexion contracture of digit	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0003549	HP:0003121	Limb joint contracture	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0030044	Flexion contracture of digit	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0000023	Inguinal hernia	3	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.		178
HP:0003549	HP:0000023	Inguinal hernia	3	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent		178
HP:0003549	HP:0001537	Umbilical hernia	3	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.		178
HP:0003549	HP:0100541	Femoral hernia	3	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent		178
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.		71
HP:0003549	HP:0006297	Enamel hypoplasia	3	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0003549	HP:0003121	Limb joint contracture	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional		27
HP:0003549	HP:0030044	Flexion contracture of digit	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003549	HP:0002803	Congenital contracture	3	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0003549	HP:0003121	Limb joint contracture	3	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0003549	HP:0030044	Flexion contracture of digit	3	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0003549	HP:0001537	Umbilical hernia	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0003549	HP:0001537	Umbilical hernia	3	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0003549	HP:0000023	Inguinal hernia	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0003549	HP:0001075	Atrophic scars	3	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0003121	Limb joint contracture	3	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0030044	Flexion contracture of digit	3	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0002828	Multiple joint contractures	3	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent		5
HP:0003549	HP:0003121	Limb joint contracture	3	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0003549	HP:0003121	Limb joint contracture	3	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0003549	HP:0001537	Umbilical hernia	3	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		59
HP:0003549	HP:0001537	Umbilical hernia	3	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.		59
HP:0003549	HP:0000023	Inguinal hernia	3	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0003549	HP:0002803	Congenital contracture	3	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0003549	HP:0002803	Congenital contracture	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0003549	HP:0001537	Umbilical hernia	3	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040282 - Frequent		81
HP:0003549	HP:0002803	Congenital contracture	3	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0003549	HP:0003121	Limb joint contracture	3	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0003549	HP:0002803	Congenital contracture	3	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0003549	HP:0001537	Umbilical hernia	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0003549	HP:0000023	Inguinal hernia	3	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		7
HP:0003549	HP:0000023	Inguinal hernia	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent		260
HP:0003549	HP:0000139	Uterine prolapse	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent		260
HP:0003549	HP:0001537	Umbilical hernia	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent		260
HP:0003549	HP:0003121	Limb joint contracture	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0030044	Flexion contracture of digit	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0000023	Inguinal hernia	3	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		260
HP:0003549	HP:0000023	Inguinal hernia	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0000139	Uterine prolapse	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0001075	Atrophic scars	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0001537	Umbilical hernia	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0100672	Vaginal hernia	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0030044	Flexion contracture of digit	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0000023	Inguinal hernia	3	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		504
HP:0003549	HP:0000023	Inguinal hernia	3	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional		504
HP:0003549	HP:0100541	Femoral hernia	3	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional		504
HP:0003549	HP:0030044	Flexion contracture of digit	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0003549	HP:0006297	Enamel hypoplasia	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0003549	HP:0000023	Inguinal hernia	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0003549	HP:0001537	Umbilical hernia	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0003549	HP:0003121	Limb joint contracture	3	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0003549	HP:0030044	Flexion contracture of digit	3	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0003549	HP:0030044	Flexion contracture of digit	3	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome			6
HP:0003549	HP:0000023	Inguinal hernia	3	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0003549	HP:0025195	Central diaphragmatic hernia	3	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0003549	HP:0003121	Limb joint contracture	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0030044	Flexion contracture of digit	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0000023	Inguinal hernia	3	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	HP:0040283 - Occasional		174
HP:0003549	HP:0000023	Inguinal hernia	3	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040281 - Very frequent		174
HP:0003549	HP:0003121	Limb joint contracture	3	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0030044	Flexion contracture of digit	3	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0003121	Limb joint contracture	3	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0003121	Limb joint contracture	3	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0030044	Flexion contracture of digit	3	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0030044	Flexion contracture of digit	3	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0006297	Enamel hypoplasia	3	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth			4
HP:0003549	HP:0002803	Congenital contracture	3	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0003549	HP:0003121	Limb joint contracture	3	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0003549	HP:0002803	Congenital contracture	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0003549	HP:0001537	Umbilical hernia	3	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.		3
HP:0003549	HP:0003121	Limb joint contracture	3	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0003549	HP:0030044	Flexion contracture of digit	3	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0003549	HP:0030044	Flexion contracture of digit	3	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0003549	HP:0002803	Congenital contracture	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0003549	HP:0002803	Congenital contracture	3	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.		7
HP:0003549	HP:0001537	Umbilical hernia	3	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0003549	HP:0003121	Limb joint contracture	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:0030044	Flexion contracture of digit	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	SP6 CL E G H	80320	14530	OMIM:620104
HP:0003549	HP:0006297	Enamel hypoplasia	3	SP6 CL E G H	80320	14530	OMIM:620104
HP:0003549	HP:0030044	Flexion contracture of digit	3	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0003549	HP:0001539	Omphalocele	3	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.		6
HP:0003549	HP:0001537	Umbilical hernia	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent		6
HP:0003549	HP:0001539	Omphalocele	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional		6
HP:0003549	HP:0003121	Limb joint contracture	3	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0003549	HP:0003121	Limb joint contracture	3	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0003549	HP:0003121	Limb joint contracture	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0003549	HP:0030044	Flexion contracture of digit	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0003549	HP:0003121	Limb joint contracture	3	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0003549	HP:0003121	Limb joint contracture	3	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0003549	HP:0012031	Lipomatous tumor	3	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0003549	HP:0012031	Lipomatous tumor	3	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0003549	HP:0003121	Limb joint contracture	3	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0003549	HP:0030044	Flexion contracture of digit	3	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0003549	HP:0003121	Limb joint contracture	3	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0003549	HP:0003121	Limb joint contracture	3	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0003549	HP:0000023	Inguinal hernia	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0003549	HP:0001537	Umbilical hernia	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0003549	HP:0003121	Limb joint contracture	3	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0003549	HP:0002803	Congenital contracture	3	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0003549	HP:0002803	Congenital contracture	3	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent		14
HP:0003549	HP:0030044	Flexion contracture of digit	3	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0003549	HP:0002803	Congenital contracture	3	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0003549	HP:0003121	Limb joint contracture	3	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.		31
HP:0003549	HP:0000023	Inguinal hernia	3	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0003549	HP:0006297	Enamel hypoplasia	3	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent		86
HP:0003549	HP:0000023	Inguinal hernia	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0006297	Enamel hypoplasia	3	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional		8
HP:0003549	HP:0001537	Umbilical hernia	3	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0003549	HP:0000023	Inguinal hernia	3	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0003121	Limb joint contracture	3	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0003121	Limb joint contracture	3	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0002803	Congenital contracture	3	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0003549	HP:0003121	Limb joint contracture	3	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0003549	HP:0030044	Flexion contracture of digit	3	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0003549	HP:0003121	Limb joint contracture	3	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0003549	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	3	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		1129
HP:0003549	HP:0002803	Congenital contracture	3	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0003549	HP:0003121	Limb joint contracture	3	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0003549	HP:0030044	Flexion contracture of digit	3	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0003549	HP:0003121	Limb joint contracture	3	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0003549	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	3	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		508
HP:0003549	HP:0005876	Progressive flexion contractures	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0003121	Limb joint contracture	3	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0003549	HP:0002803	Congenital contracture	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0003549	HP:0030044	Flexion contracture of digit	3	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003549	HP:0030044	Flexion contracture of digit	3	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003549	HP:0012031	Lipomatous tumor	3	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0003549	HP:0100578	Lipoatrophy	3	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0003549	HP:0100578	Lipoatrophy	3	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0003549	HP:0001537	Umbilical hernia	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003549	HP:0002828	Multiple joint contractures	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003549	HP:0006297	Enamel hypoplasia	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003549	HP:0008887	Adipose tissue loss	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003549	HP:0000023	Inguinal hernia	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0003549	HP:0003121	Limb joint contracture	3	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0030044	Flexion contracture of digit	3	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0002803	Congenital contracture	3	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0003549	HP:0002803	Congenital contracture	3	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent		22
HP:0003549	HP:0000023	Inguinal hernia	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0003549	HP:0000023	Inguinal hernia	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0003549	HP:0001537	Umbilical hernia	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0003549	HP:0000023	Inguinal hernia	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0003549	HP:0001537	Umbilical hernia	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0003549	HP:0100541	Femoral hernia	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0003549	HP:0000023	Inguinal hernia	3	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0003549	HP:0001537	Umbilical hernia	3	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0003549	HP:0003121	Limb joint contracture	3	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0003549	HP:0030044	Flexion contracture of digit	3	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0003549	HP:0003121	Limb joint contracture	3	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0003549	HP:0000023	Inguinal hernia	3	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0003549	HP:0003121	Limb joint contracture	3	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0003121	Limb joint contracture	3	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0003549	HP:0030044	Flexion contracture of digit	3	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0002803	Congenital contracture	3	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0003549	HP:0012031	Lipomatous tumor	3	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0003549	HP:0100578	Lipoatrophy	3	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		78
HP:0003549	HP:0030044	Flexion contracture of digit	3	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0003549	HP:0003121	Limb joint contracture	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0003549	HP:0030044	Flexion contracture of digit	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0003549	HP:0003121	Limb joint contracture	3	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0003549	HP:0001537	Umbilical hernia	3	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0003549	HP:0003121	Limb joint contracture	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0003549	HP:0001537	Umbilical hernia	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0003549	HP:0001537	Umbilical hernia	3	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		155
HP:0003549	HP:0000023	Inguinal hernia	3	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0003549	HP:0001537	Umbilical hernia	3	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0003549	HP:0003121	Limb joint contracture	3	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0003549	HP:0030044	Flexion contracture of digit	3	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0003549	HP:0030044	Flexion contracture of digit	3	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0003549	HP:0006297	Enamel hypoplasia	3	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003549	HP:0007552	Abnormal subcutaneous fat tissue distribution	3	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0003549	HP:0000023	Inguinal hernia	3	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		162
HP:0003549	HP:0000023	Inguinal hernia	3	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0003549	HP:0000023	Inguinal hernia	3	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		85
HP:0003549	HP:0000023	Inguinal hernia	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0002803	Congenital contracture	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0003121	Limb joint contracture	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0030044	Flexion contracture of digit	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0000023	Inguinal hernia	3	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		239
HP:0003549	HP:0003121	Limb joint contracture	3	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0030044	Flexion contracture of digit	3	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0030044	Flexion contracture of digit	3	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0003549	HP:0000023	Inguinal hernia	3	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		253
HP:0003549	HP:0003121	Limb joint contracture	3	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0030044	Flexion contracture of digit	3	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0000023	Inguinal hernia	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	HP:0040283 - Occasional		253
HP:0003549	HP:0001537	Umbilical hernia	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	HP:0040283 - Occasional		253
HP:0003549	HP:0003121	Limb joint contracture	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003549	HP:0030044	Flexion contracture of digit	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003549	HP:0002828	Multiple joint contractures	3	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040283 - Occasional		98
HP:0003549	HP:0030044	Flexion contracture of digit	3	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0003549	HP:0001539	Omphalocele	3	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0003549	HP:0003121	Limb joint contracture	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0030044	Flexion contracture of digit	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0000023	Inguinal hernia	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0003549	HP:0000023	Inguinal hernia	3	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.		4
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	HP:0040283 - Occasional		24
HP:0003549	HP:0001539	Omphalocele	3	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0003549	HP:0003121	Limb joint contracture	3	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0003549	HP:0030044	Flexion contracture of digit	3	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0003549	HP:0003121	Limb joint contracture	3	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0003549	HP:0000023	Inguinal hernia	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0003549	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	3	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		171
HP:0003549	HP:0000023	Inguinal hernia	3	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		166
HP:0003549	HP:0000023	Inguinal hernia	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0003549	HP:0001537	Umbilical hernia	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0003549	HP:0003121	Limb joint contracture	3	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0003549	HP:0030044	Flexion contracture of digit	3	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0003549	HP:0001539	Omphalocele	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0003549	HP:0100578	Lipoatrophy	3	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		136
HP:0003549	HP:0100578	Lipoatrophy	3	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		73
HP:0003549	HP:0002803	Congenital contracture	3	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0003121	Limb joint contracture	3	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0030044	Flexion contracture of digit	3	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0003121	Limb joint contracture	3	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0003549	HP:0030044	Flexion contracture of digit	3	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0003549	HP:0100578	Lipoatrophy	3	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		180
HP:0003549	HP:0003121	Limb joint contracture	3	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0003549	HP:0003121	Limb joint contracture	3	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0003549	HP:0100578	Lipoatrophy	3	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		248
HP:0003549	HP:0030044	Flexion contracture of digit	3	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2			43
HP:0003549	HP:0003121	Limb joint contracture	3	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0003549	HP:0030044	Flexion contracture of digit	3	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0003549	HP:0000023	Inguinal hernia	3	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	.
HP:0003549	HP:0000023	Inguinal hernia	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0001537	Umbilical hernia	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0002803	Congenital contracture	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0003121	Limb joint contracture	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0030044	Flexion contracture of digit	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0002828	Multiple joint contractures	3	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0003549	HP:0003121	Limb joint contracture	3	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0030044	Flexion contracture of digit	3	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0025383	Dorsocervical fat pad	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0003549	HP:0003121	Limb joint contracture	3	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0000023	Inguinal hernia	3	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040282 - Frequent		140
HP:0003549	HP:0001537	Umbilical hernia	3	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent		140
HP:0003549	HP:0001539	Omphalocele	3	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional		140
HP:0003549	HP:0001537	Umbilical hernia	3	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		140
HP:0003549	HP:0003121	Limb joint contracture	3	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome			140
HP:0003549	HP:0030044	Flexion contracture of digit	3	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome			140
HP:0003549	HP:0006297	Enamel hypoplasia	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0003549	HP:0100578	Lipoatrophy	3	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		230
HP:0003549	HP:0002803	Congenital contracture	3	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0003549	HP:0003121	Limb joint contracture	3	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0003549	HP:0030044	Flexion contracture of digit	3	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0003549	HP:0002803	Congenital contracture	3	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0003549	HP:0003121	Limb joint contracture	3	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0003549	HP:0030044	Flexion contracture of digit	3	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0003549	HP:0003121	Limb joint contracture	3	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0003549	HP:0030044	Flexion contracture of digit	3	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0003549	HP:0003121	Limb joint contracture	3	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0003549	HP:0002803	Congenital contracture	3	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0003549	HP:0002803	Congenital contracture	3	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0003549	HP:0003121	Limb joint contracture	3	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0003549	HP:0030044	Flexion contracture of digit	3	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0003549	HP:0002803	Congenital contracture	3	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0003549	HP:0003121	Limb joint contracture	3	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0003549	HP:0001537	Umbilical hernia	3	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		92
HP:0003549	HP:0003121	Limb joint contracture	3	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0001537	Umbilical hernia	3	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0003549	HP:0100578	Lipoatrophy	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		56
HP:0003549	HP:0002828	Multiple joint contractures	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0003549	HP:0003121	Limb joint contracture	3	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0003549	HP:0006297	Enamel hypoplasia	3	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0003549	HP:0001537	Umbilical hernia	3	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0003549	HP:0001537	Umbilical hernia	3	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent		133
HP:0003549	HP:0100541	Femoral hernia	3	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent		133
HP:0003549	HP:0002803	Congenital contracture	3	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0003549	HP:0002828	Multiple joint contractures	3	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional		4
HP:0003549	HP:0002803	Congenital contracture	3	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0003549	HP:0025383	Dorsocervical fat pad	3	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	HP:0040283 - Occasional		7
HP:0003549	HP:0025383	Dorsocervical fat pad	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0003549	HP:0003121	Limb joint contracture	3	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0003549	HP:0012031	Lipomatous tumor	3	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0003549	HP:0012031	Lipomatous tumor	3	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0003549	HP:0012031	Lipomatous tumor	3	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0003549	HP:0012031	Lipomatous tumor	3	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0003549	HP:0012031	Lipomatous tumor	3	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0003549	HP:0012031	Lipomatous tumor	3	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0003549	HP:0012031	Lipomatous tumor	3	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0003549	HP:0012031	Lipomatous tumor	3	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0003549	HP:0012031	Lipomatous tumor	3	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0003549	HP:0003121	Limb joint contracture	3	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0003549	HP:0030044	Flexion contracture of digit	3	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0003549	HP:0002803	Congenital contracture	3	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0003549	HP:0003121	Limb joint contracture	3	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003549	HP:0030044	Flexion contracture of digit	3	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003549	HP:0002803	Congenital contracture	3	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0003549	HP:0003121	Limb joint contracture	3	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0003549	HP:0003121	Limb joint contracture	3	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003549	HP:0003121	Limb joint contracture	3	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional		214
HP:0003549	HP:0000023	Inguinal hernia	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0003549	HP:0001537	Umbilical hernia	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0003549	HP:0001539	Omphalocele	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0003549	HP:0009722	Dental enamel pits	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0003549	HP:0002803	Congenital contracture	3	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0003549	HP:0002803	Congenital contracture	3	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.		102
HP:0003549	HP:0001537	Umbilical hernia	3	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.		9
HP:0003549	HP:0001539	Omphalocele	3	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.		9
HP:0003549	HP:0001537	Umbilical hernia	3	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0003549	HP:0001537	Umbilical hernia	3	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional		97
HP:0003549	HP:0000023	Inguinal hernia	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003549	HP:0001539	Omphalocele	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		26
HP:0003549	HP:0001539	Omphalocele	3	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040283 - Occasional		26
HP:0003549	HP:0006297	Enamel hypoplasia	3	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040284 - Very rare		26
HP:0003549	HP:0003121	Limb joint contracture	3	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0003549	HP:0002828	Multiple joint contractures	3	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		7128
HP:0003549	HP:0100578	Lipoatrophy	3	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		7128
HP:0003549	HP:0003121	Limb joint contracture	3	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0003549	HP:0002803	Congenital contracture	3	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0002828	Multiple joint contractures	3	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		106
HP:0003549	HP:0003121	Limb joint contracture	3	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0030044	Flexion contracture of digit	3	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0000023	Inguinal hernia	3	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0003549	HP:0001537	Umbilical hernia	3	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0003549	HP:0003121	Limb joint contracture	3	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0003549	HP:0030044	Flexion contracture of digit	3	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0003549	HP:0001537	Umbilical hernia	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent		7
HP:0003549	HP:0001539	Omphalocele	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040283 - Occasional		7
HP:0003549	HP:0003121	Limb joint contracture	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0030044	Flexion contracture of digit	3	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0001539	Omphalocele	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0003549	HP:0002933	Ventral hernia	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.		7
HP:0003549	HP:0030044	Flexion contracture of digit	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0003549	HP:0000023	Inguinal hernia	3	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0003549	HP:0100578	Lipoatrophy	3	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		85
HP:0003549	HP:0002803	Congenital contracture	3	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003549	HP:0003121	Limb joint contracture	3	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003549	HP:0030044	Flexion contracture of digit	3	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003549	HP:0000023	Inguinal hernia	3	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0003549	HP:0002803	Congenital contracture	3	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0003549	HP:0002828	Multiple joint contractures	3	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0003549	HP:0001537	Umbilical hernia	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0003549	HP:0003121	Limb joint contracture	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0000023	Inguinal hernia	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0001537	Umbilical hernia	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0003121	Limb joint contracture	3	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0003549	HP:0003121	Limb joint contracture	3	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0003549	HP:0003121	Limb joint contracture	3	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0003549	HP:0030044	Flexion contracture of digit	3	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0003549	HP:0004552	Scarring alopecia of scalp	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0003549	HP:0003121	Limb joint contracture	3	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0003549	HP:0012031	Lipomatous tumor	3	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0003549	HP:0025383	Dorsocervical fat pad	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0003549	HP:0025383	Dorsocervical fat pad	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0003549	HP:0002803	Congenital contracture	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0003549	HP:0012031	Lipomatous tumor	3	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to			111
HP:0003549	HP:0012031	Lipomatous tumor	3	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele			111
HP:0003549	HP:0001539	Omphalocele	3	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		2
HP:0003549	HP:0012031	Lipomatous tumor	3	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to			2
HP:0003549	HP:0003121	Limb joint contracture	3	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0003549	HP:0100578	Lipoatrophy	3	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional		248
HP:0003549	HP:0006297	Enamel hypoplasia	3	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0003549	HP:0002803	Congenital contracture	3	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0003549	HP:0002828	Multiple joint contractures	3	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		1
HP:0003549	HP:0002803	Congenital contracture	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0003549	HP:0000023	Inguinal hernia	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001537	Umbilical hernia	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003549	HP:0002803	Congenital contracture	3	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0003549	HP:0002803	Congenital contracture	3	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.		32
HP:0003549	HP:0000023	Inguinal hernia	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0003549	HP:0030044	Flexion contracture of digit	3	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0003549	HP:0000023	Inguinal hernia	3	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.		95
HP:0003549	HP:0003121	Limb joint contracture	3	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0003549	HP:0000023	Inguinal hernia	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0003549	HP:0001539	Omphalocele	3	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional		136
HP:0003549	HP:0003121	Limb joint contracture	3	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0030044	Flexion contracture of digit	3	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0000705	Amelogenesis imperfecta	3	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3	.		137
HP:0003549	HP:0006285	Enamel hypomineralization	3	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3	.		137
HP:0003549	HP:0003121	Limb joint contracture	3	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0030044	Flexion contracture of digit	3	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0003121	Limb joint contracture	3	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0003549	HP:0030044	Flexion contracture of digit	3	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0003549	HP:0030044	Flexion contracture of digit	3	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0003549	HP:0006297	Enamel hypoplasia	3	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional		71
HP:0003549	HP:0006297	Enamel hypoplasia	3	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional		4
HP:0003549	HP:0000023	Inguinal hernia	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0003549	HP:0001537	Umbilical hernia	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		98
HP:0003549	HP:0100541	Femoral hernia	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0003549	HP:0003121	Limb joint contracture	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0030044	Flexion contracture of digit	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0000023	Inguinal hernia	3	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		98
HP:0003549	HP:0001537	Umbilical hernia	3	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		98
HP:0003549	HP:0003121	Limb joint contracture	3	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0003549	HP:0100578	Lipoatrophy	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent		310
HP:0003549	HP:0009112	Aplasia of the left hemidiaphragm	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0003549	HP:0032592	Aplasia of the right hemidiaphragm	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0003549	HP:0001537	Umbilical hernia	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0003549	HP:0000023	Inguinal hernia	3	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0003549	HP:0003121	Limb joint contracture	3	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0003549	HP:0030044	Flexion contracture of digit	3	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0003549	HP:0000023	Inguinal hernia	3	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional		14
HP:0003549	HP:0001539	Omphalocele	3	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional		14
HP:0003549	HP:0002803	Congenital contracture	3	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0003549	HP:0002803	Congenital contracture	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0003549	HP:0003121	Limb joint contracture	3	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0003549	HP:0003121	Limb joint contracture	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0003549	HP:0001537	Umbilical hernia	3	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional		9
HP:0003549	HP:0002803	Congenital contracture	3	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6	.		1
HP:0003549	HP:0001537	Umbilical hernia	3	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0003549	HP:0002803	Congenital contracture	3	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0003549	HP:0003121	Limb joint contracture	3	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0003549	HP:0002803	Congenital contracture	3	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0003549	HP:0003121	Limb joint contracture	3	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0003549	HP:0030044	Flexion contracture of digit	3	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0003549	HP:0003121	Limb joint contracture	3	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0003549	HP:0003121	Limb joint contracture	3	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0003549	HP:0030044	Flexion contracture of digit	3	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0003549	HP:0003121	Limb joint contracture	3	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0003549	HP:0030044	Flexion contracture of digit	3	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0003549	HP:0000023	Inguinal hernia	3	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3			8
HP:0003549	HP:0030044	Flexion contracture of digit	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0003549	HP:0030044	Flexion contracture of digit	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0003549	HP:0001537	Umbilical hernia	3	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0003549	HP:0001539	Omphalocele	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0003549	HP:0008887	Adipose tissue loss	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0003549	HP:0000292	Loss of facial adipose tissue	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0003549	HP:0003758	Reduced subcutaneous adipose tissue	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003549	HP:0008887	Adipose tissue loss	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003549	HP:0009064	Generalized lipodystrophy	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent		83
HP:0003549	HP:0009064	Generalized lipodystrophy	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0003549	HP:0002803	Congenital contracture	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0002828	Multiple joint contractures	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0003549	HP:0003121	Limb joint contracture	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0030044	Flexion contracture of digit	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0003121	Limb joint contracture	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0003549	HP:0002803	Congenital contracture	3	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0003549	HP:0003121	Limb joint contracture	3	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0030044	Flexion contracture of digit	3	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0030044	Flexion contracture of digit	3	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0003549	HP:0002803	Congenital contracture	3	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0003549	HP:0012031	Lipomatous tumor	3	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0003549	HP:0012031	Lipomatous tumor	3	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0003549	HP:0006282	Generalized hypoplasia of dental enamel	4	CL E G H
HP:0003549	HP:0007596	Painful subcutaneous lipomas	4	CL E G H
HP:0003549	HP:0011074	Localized hypoplasia of dental enamel	4	CL E G H
HP:0003549	HP:0012034	Liposarcoma	4	CL E G H
HP:0003549	HP:0100821	Urethrocele	4	CL E G H
HP:0003549	HP:0100822	Rectocele	4	CL E G H
HP:0003549	HP:0001012	Multiple lipomas	4	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		415
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0003549	HP:0012385	Camptodactyly	4	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.		51
HP:0003549	HP:0005684	Distal arthrogryposis	4	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		96
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0003549	HP:0012785	Flexion contracture of finger	4	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040284 - Very rare		96
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		96
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0012385	Camptodactyly	4	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0012785	Flexion contracture of finger	4	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0003549	HP:0012385	Camptodactyly	4	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0003549	HP:0012785	Flexion contracture of finger	4	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003549	HP:0012385	Camptodactyly	4	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003549	HP:0012785	Flexion contracture of finger	4	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0005879	Congenital finger flexion contractures	4	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare		9
HP:0003549	HP:0012385	Camptodactyly	4	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0012785	Flexion contracture of finger	4	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8	.		2
HP:0003549	HP:0005684	Distal arthrogryposis	4	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		88
HP:0003549	HP:0031158	Widened atrophic scar	4	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0003549	HP:0012032	Lipoma	4	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0003549	HP:0001012	Multiple lipomas	4	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0003549	HP:0012032	Lipoma	4	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0003549	HP:0001012	Multiple lipomas	4	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0003549	HP:0012032	Lipoma	4	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0003549	HP:0012385	Camptodactyly	4	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			12
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			46
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare		37
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0003549	HP:0012385	Camptodactyly	4	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0003549	HP:0012385	Camptodactyly	4	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		114
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		114
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0003549	HP:0001012	Multiple lipomas	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0012385	Camptodactyly	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0012785	Flexion contracture of finger	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0001012	Multiple lipomas	4	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0012032	Lipoma	4	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0012385	Camptodactyly	4	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0003549	HP:0001012	Multiple lipomas	4	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0012385	Camptodactyly	4	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0012785	Flexion contracture of finger	4	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0100360	Upper-limb joint contracture	4	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003549	HP:0005750	Lower-limb joint contracture	4	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003549	HP:0005830	Flexion contracture of toe	4	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0003549	HP:0012385	Camptodactyly	4	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0003549	HP:0012785	Flexion contracture of finger	4	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003549	HP:0012385	Camptodactyly	4	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003549	HP:0012785	Flexion contracture of finger	4	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003549	HP:0001012	Multiple lipomas	4	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.		6
HP:0003549	HP:0001012	Multiple lipomas	4	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.		3179
HP:0003549	HP:0012032	Lipoma	4	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0003549	HP:0012032	Lipoma	4	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040282 - Frequent		3179
HP:0003549	HP:0100360	Upper-limb joint contracture	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0005750	Lower-limb joint contracture	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0012385	Camptodactyly	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0012785	Flexion contracture of finger	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0003549	HP:0012385	Camptodactyly	4	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0003549	HP:0012785	Flexion contracture of finger	4	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0012385	Camptodactyly	4	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0012785	Flexion contracture of finger	4	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0012385	Camptodactyly	4	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0003549	HP:0012385	Camptodactyly	4	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0012385	Camptodactyly	4	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0012785	Flexion contracture of finger	4	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0005684	Distal arthrogryposis	4	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0003549	HP:0012385	Camptodactyly	4	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0003549	HP:0012385	Camptodactyly	4	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0003549	HP:0012385	Camptodactyly	4	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0003549	HP:0100360	Upper-limb joint contracture	4	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0003549	HP:0012785	Flexion contracture of finger	4	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0003549	HP:0100360	Upper-limb joint contracture	4	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0003549	HP:0100360	Upper-limb joint contracture	4	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0003549	HP:0100360	Upper-limb joint contracture	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0003549	HP:0012385	Camptodactyly	4	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0003549	HP:0005750	Lower-limb joint contracture	4	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0003549	HP:0005750	Lower-limb joint contracture	4	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0003549	HP:0012385	Camptodactyly	4	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0003549	HP:0012785	Flexion contracture of finger	4	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0003549	HP:0100360	Upper-limb joint contracture	4	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0003549	HP:0012385	Camptodactyly	4	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0003549	HP:0005750	Lower-limb joint contracture	4	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0005830	Flexion contracture of toe	4	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0012385	Camptodactyly	4	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0005750	Lower-limb joint contracture	4	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0003549	HP:0005830	Flexion contracture of toe	4	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0003549	HP:0100360	Upper-limb joint contracture	4	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0012385	Camptodactyly	4	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0012785	Flexion contracture of finger	4	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0012385	Camptodactyly	4	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	HP:0040283 - Occasional		7
HP:0003549	HP:0012385	Camptodactyly	4	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex	.		4
HP:0003549	HP:0005853	Congenital foot contraction deformities	4	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040282 - Frequent		46
HP:0003549	HP:0005750	Lower-limb joint contracture	4	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0003549	HP:0005750	Lower-limb joint contracture	4	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0003549	HP:0012385	Camptodactyly	4	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0003549	HP:0100360	Upper-limb joint contracture	4	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0003549	HP:0012785	Flexion contracture of finger	4	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0003549	HP:0001012	Multiple lipomas	4	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0003549	HP:0005750	Lower-limb joint contracture	4	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0003549	HP:0012385	Camptodactyly	4	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0003549	HP:0005750	Lower-limb joint contracture	4	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0003549	HP:0100360	Upper-limb joint contracture	4	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0003549	HP:0005750	Lower-limb joint contracture	4	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0003549	HP:0012785	Flexion contracture of finger	4	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent		114
HP:0003549	HP:0005750	Lower-limb joint contracture	4	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive			114
HP:0003549	HP:0012385	Camptodactyly	4	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0003549	HP:0012385	Camptodactyly	4	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0003549	HP:0012785	Flexion contracture of finger	4	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0005750	Lower-limb joint contracture	4	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0005879	Congenital finger flexion contractures	4	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0003549	HP:0012385	Camptodactyly	4	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0012785	Flexion contracture of finger	4	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0003549	HP:0012385	Camptodactyly	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0003549	HP:0012785	Flexion contracture of finger	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis			11
HP:0003549	HP:0005750	Lower-limb joint contracture	4	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis			11
HP:0003549	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0003549	HP:0003717	Minimal subcutaneous fat	4	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0003549	HP:0005995	Decreased adipose tissue around neck	4	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.		11
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0003549	HP:0012385	Camptodactyly	4	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0003549	HP:0012385	Camptodactyly	4	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0003549	HP:0012785	Flexion contracture of finger	4	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0003549	HP:0012385	Camptodactyly	4	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.		33
HP:0003549	HP:0012385	Camptodactyly	4	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0003549	HP:0005684	Distal arthrogryposis	4	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0003549	HP:0001012	Multiple lipomas	4	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.		3
HP:0003549	HP:0012032	Lipoma	4	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.		3
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0005750	Lower-limb joint contracture	4	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003549	HP:0012385	Camptodactyly	4	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003549	HP:0012785	Flexion contracture of finger	4	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003549	HP:0012385	Camptodactyly	4	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0005750	Lower-limb joint contracture	4	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0012385	Camptodactyly	4	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0003549	HP:0012385	Camptodactyly	4	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0003549	HP:0012385	Camptodactyly	4	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0003549	HP:0012785	Flexion contracture of finger	4	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0003549	HP:0012385	Camptodactyly	4	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0003549	HP:0012785	Flexion contracture of finger	4	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0003549	HP:0012032	Lipoma	4	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040284 - Very rare		169
HP:0003549	HP:0012032	Lipoma	4	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040284 - Very rare		169
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome			87
HP:0003549	HP:0012385	Camptodactyly	4	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	.		87
HP:0003549	HP:0012385	Camptodactyly	4	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.		3
HP:0003549	HP:0001012	Multiple lipomas	4	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		2
HP:0003549	HP:0001012	Multiple lipomas	4	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		102
HP:0003549	HP:0001012	Multiple lipomas	4	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0003549	HP:0001012	Multiple lipomas	4	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		1
HP:0003549	HP:0001012	Multiple lipomas	4	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0003549	HP:0012385	Camptodactyly	4	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0003549	HP:0012785	Flexion contracture of finger	4	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0003549	HP:0005750	Lower-limb joint contracture	4	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0003549	HP:0012385	Camptodactyly	4	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		515
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	HP:0040283 - Occasional		19
HP:0003549	HP:0012385	Camptodactyly	4	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0003549	HP:0005750	Lower-limb joint contracture	4	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0003549	HP:0012385	Camptodactyly	4	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0012785	Flexion contracture of finger	4	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0003549	HP:0005750	Lower-limb joint contracture	4	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0005830	Flexion contracture of toe	4	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0012385	Camptodactyly	4	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0003549	HP:0005684	Distal arthrogryposis	4	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003549	HP:0012385	Camptodactyly	4	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003549	HP:0012785	Flexion contracture of finger	4	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003549	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040280 - Obligate		8
HP:0003549	HP:0009017	Loss of gluteal subcutaneous adipose tissue	4	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent		8
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0003549	HP:0012385	Camptodactyly	4	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0003549	HP:0012785	Flexion contracture of finger	4	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0003549	HP:0012385	Camptodactyly	4	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.		40
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0003549	HP:0005750	Lower-limb joint contracture	4	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	HP:0040284 - Very rare		9
HP:0003549	HP:0012385	Camptodactyly	4	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0003549	HP:0012385	Camptodactyly	4	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0003549	HP:0012785	Flexion contracture of finger	4	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0012385	Camptodactyly	4	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0012785	Flexion contracture of finger	4	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0003549	HP:0012385	Camptodactyly	4	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0012385	Camptodactyly	4	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0012785	Flexion contracture of finger	4	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0001073	Cigarette-paper scars	4	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0012385	Camptodactyly	4	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0012785	Flexion contracture of finger	4	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0005879	Congenital finger flexion contractures	4	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003549	HP:0012385	Camptodactyly	4	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0012785	Flexion contracture of finger	4	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0003549	HP:0001073	Cigarette-paper scars	4	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0003549	HP:0012785	Flexion contracture of finger	4	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent		284
HP:0003549	HP:0001073	Cigarette-paper scars	4	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0003549	HP:0100645	Cystocele	4	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0003549	HP:0012385	Camptodactyly	4	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.		749
HP:0003549	HP:0001073	Cigarette-paper scars	4	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0003549	HP:0100645	Cystocele	4	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0003549	HP:0001073	Cigarette-paper scars	4	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		660
HP:0003549	HP:0001073	Cigarette-paper scars	4	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0003549	HP:0001073	Cigarette-paper scars	4	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		325
HP:0003549	HP:0001073	Cigarette-paper scars	4	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0003549	HP:0001073	Cigarette-paper scars	4	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0012385	Camptodactyly	4	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0012785	Flexion contracture of finger	4	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0012385	Camptodactyly	4	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0012785	Flexion contracture of finger	4	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0003549	HP:0001073	Cigarette-paper scars	4	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0012385	Camptodactyly	4	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0012785	Flexion contracture of finger	4	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0012385	Camptodactyly	4	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0012785	Flexion contracture of finger	4	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0003549	HP:0001073	Cigarette-paper scars	4	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0012385	Camptodactyly	4	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0012785	Flexion contracture of finger	4	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0012385	Camptodactyly	4	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0012785	Flexion contracture of finger	4	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0100360	Upper-limb joint contracture	4	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0003549	HP:0005750	Lower-limb joint contracture	4	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0003549	HP:0005750	Lower-limb joint contracture	4	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0012385	Camptodactyly	4	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0003549	HP:0012385	Camptodactyly	4	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0003549	HP:0012785	Flexion contracture of finger	4	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0003549	HP:0012385	Camptodactyly	4	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0003549	HP:0005750	Lower-limb joint contracture	4	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003549	HP:0012385	Camptodactyly	4	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003549	HP:0012785	Flexion contracture of finger	4	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003549	HP:0012385	Camptodactyly	4	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003549	HP:0012785	Flexion contracture of finger	4	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003549	HP:0001073	Cigarette-paper scars	4	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional		50
HP:0003549	HP:0100360	Upper-limb joint contracture	4	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0012385	Camptodactyly	4	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0012785	Flexion contracture of finger	4	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0005750	Lower-limb joint contracture	4	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0003549	HP:0005750	Lower-limb joint contracture	4	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0003549	HP:0012385	Camptodactyly	4	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent		27
HP:0003549	HP:0005750	Lower-limb joint contracture	4	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003549	HP:0005750	Lower-limb joint contracture	4	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0005750	Lower-limb joint contracture	4	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0012785	Flexion contracture of finger	4	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.		72
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0003549	HP:0012385	Camptodactyly	4	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0003549	HP:0012785	Flexion contracture of finger	4	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003549	HP:0005750	Lower-limb joint contracture	4	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0012385	Camptodactyly	4	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0003549	HP:0012785	Flexion contracture of finger	4	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0012385	Camptodactyly	4	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:0003549	HP:0012785	Flexion contracture of finger	4	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0012385	Camptodactyly	4	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0012785	Flexion contracture of finger	4	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0005750	Lower-limb joint contracture	4	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0003549	HP:0012385	Camptodactyly	4	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0012785	Flexion contracture of finger	4	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0005750	Lower-limb joint contracture	4	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			38
HP:0003549	HP:0012385	Camptodactyly	4	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0003549	HP:0012385	Camptodactyly	4	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent		3
HP:0003549	HP:0005750	Lower-limb joint contracture	4	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0003549	HP:0012385	Camptodactyly	4	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0003549	HP:0005750	Lower-limb joint contracture	4	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0003549	HP:0012385	Camptodactyly	4	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0003549	HP:0012385	Camptodactyly	4	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0003549	HP:0005750	Lower-limb joint contracture	4	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0003549	HP:0005830	Flexion contracture of toe	4	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0003549	HP:0012385	Camptodactyly	4	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0003549	HP:0012385	Camptodactyly	4	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		4
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0012385	Camptodactyly	4	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0012785	Flexion contracture of finger	4	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0012385	Camptodactyly	4	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0012385	Camptodactyly	4	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0012785	Flexion contracture of finger	4	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0012385	Camptodactyly	4	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0003549	HP:0012385	Camptodactyly	4	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.		65
HP:0003549	HP:0100360	Upper-limb joint contracture	4	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0003549	HP:0005750	Lower-limb joint contracture	4	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0003549	HP:0012785	Flexion contracture of finger	4	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0012785	Flexion contracture of finger	4	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0003549	HP:0012385	Camptodactyly	4	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.		37
HP:0003549	HP:0012385	Camptodactyly	4	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0003549	HP:0100360	Upper-limb joint contracture	4	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0012385	Camptodactyly	4	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0012785	Flexion contracture of finger	4	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0100360	Upper-limb joint contracture	4	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0012385	Camptodactyly	4	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0012785	Flexion contracture of finger	4	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0005750	Lower-limb joint contracture	4	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0003549	HP:0005830	Flexion contracture of toe	4	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0003549	HP:0100360	Upper-limb joint contracture	4	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0003549	HP:0005750	Lower-limb joint contracture	4	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0003549	HP:0100360	Upper-limb joint contracture	4	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0003549	HP:0005750	Lower-limb joint contracture	4	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0003549	HP:0100360	Upper-limb joint contracture	4	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0003549	HP:0012385	Camptodactyly	4	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0003549	HP:0012785	Flexion contracture of finger	4	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0003549	HP:0001012	Multiple lipomas	4	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		151
HP:0003549	HP:0012385	Camptodactyly	4	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.		12
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0005830	Flexion contracture of toe	4	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0003549	HP:0012385	Camptodactyly	4	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0012785	Flexion contracture of finger	4	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		20
HP:0003549	HP:0012385	Camptodactyly	4	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0012785	Flexion contracture of finger	4	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0012385	Camptodactyly	4	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0012785	Flexion contracture of finger	4	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		106
HP:0003549	HP:0012385	Camptodactyly	4	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0012785	Flexion contracture of finger	4	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.		83
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		83
HP:0003549	HP:0012385	Camptodactyly	4	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0012785	Flexion contracture of finger	4	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003549	HP:0012385	Camptodactyly	4	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0003549	HP:0000292	Loss of facial adipose tissue	4	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		199
HP:0003549	HP:0012385	Camptodactyly	4	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0012785	Flexion contracture of finger	4	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0000292	Loss of facial adipose tissue	4	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ERGIC1 CL E G H	57222	29205	OMIM:208100	Arthrogryposis multiplex congenita, Neurogenic type	.
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0003549	HP:0005830	Flexion contracture of toe	4	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0003549	HP:0100360	Upper-limb joint contracture	4	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0003549	HP:0012385	Camptodactyly	4	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0003549	HP:0100360	Upper-limb joint contracture	4	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0100360	Upper-limb joint contracture	4	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0003549	HP:0012385	Camptodactyly	4	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0012385	Camptodactyly	4	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0003549	HP:0012785	Flexion contracture of finger	4	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0005750	Lower-limb joint contracture	4	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A			303
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0003549	HP:0012385	Camptodactyly	4	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent		114
HP:0003549	HP:0012385	Camptodactyly	4	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0003549	HP:0012385	Camptodactyly	4	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0003549	HP:0012785	Flexion contracture of finger	4	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0003549	HP:0012385	Camptodactyly	4	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0012385	Camptodactyly	4	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0012785	Flexion contracture of finger	4	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0012385	Camptodactyly	4	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0005830	Flexion contracture of toe	4	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0003549	HP:0012385	Camptodactyly	4	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0003549	HP:0012785	Flexion contracture of finger	4	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0005684	Distal arthrogryposis	4	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0005879	Congenital finger flexion contractures	4	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0012385	Camptodactyly	4	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0012785	Flexion contracture of finger	4	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0012385	Camptodactyly	4	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0012785	Flexion contracture of finger	4	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0012785	Flexion contracture of finger	4	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:0012385	Camptodactyly	4	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:0012785	Flexion contracture of finger	4	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0012385	Camptodactyly	4	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0012785	Flexion contracture of finger	4	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0012385	Camptodactyly	4	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		3
HP:0003549	HP:0012385	Camptodactyly	4	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		17
HP:0003549	HP:0001012	Multiple lipomas	4	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0003549	HP:0001012	Multiple lipomas	4	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		172
HP:0003549	HP:0012032	Lipoma	4	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.		172
HP:0003549	HP:0012385	Camptodactyly	4	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		172
HP:0003549	HP:0012385	Camptodactyly	4	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		175
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0003549	HP:0005830	Flexion contracture of toe	4	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0003549	HP:0012385	Camptodactyly	4	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0003549	HP:0012385	Camptodactyly	4	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0003549	HP:0012785	Flexion contracture of finger	4	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0003549	HP:0005830	Flexion contracture of toe	4	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0003549	HP:0012385	Camptodactyly	4	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0003549	HP:0012385	Camptodactyly	4	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0003549	HP:0005684	Distal arthrogryposis	4	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent		61
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0003549	HP:0012385	Camptodactyly	4	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0003549	HP:0012785	Flexion contracture of finger	4	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0003549	HP:0001012	Multiple lipomas	4	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome	HP:0040282 - Frequent		332
HP:0003549	HP:0001012	Multiple lipomas	4	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0012385	Camptodactyly	4	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003549	HP:0012385	Camptodactyly	4	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0012785	Flexion contracture of finger	4	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003549	HP:0012785	Flexion contracture of finger	4	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0012385	Camptodactyly	4	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0012785	Flexion contracture of finger	4	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0005830	Flexion contracture of toe	4	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0012385	Camptodactyly	4	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0012785	Flexion contracture of finger	4	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0012385	Camptodactyly	4	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0003549	HP:0012385	Camptodactyly	4	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0003549	HP:0012785	Flexion contracture of finger	4	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0003549	HP:0012385	Camptodactyly	4	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional		111
HP:0003549	HP:0012785	Flexion contracture of finger	4	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional		111
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0003549	HP:0005750	Lower-limb joint contracture	4	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0003549	HP:0001012	Multiple lipomas	4	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.		3
HP:0003549	HP:0012032	Lipoma	4	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.		3
HP:0003549	HP:0100360	Upper-limb joint contracture	4	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0012385	Camptodactyly	4	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0003549	HP:0012385	Camptodactyly	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0003549	HP:0012785	Flexion contracture of finger	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0003549	HP:0012385	Camptodactyly	4	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0003549	HP:0012785	Flexion contracture of finger	4	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0003549	HP:0005745	Congenital foot contractures	4	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	HP:0040284 - Very rare		43
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			128
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0003549	HP:0012785	Flexion contracture of finger	4	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0012385	Camptodactyly	4	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0012785	Flexion contracture of finger	4	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0003549	HP:0012785	Flexion contracture of finger	4	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3			68
HP:0003549	HP:0012385	Camptodactyly	4	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3			68
HP:0003549	HP:0012785	Flexion contracture of finger	4	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3			68
HP:0003549	HP:0012385	Camptodactyly	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0003549	HP:0012385	Camptodactyly	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.		45
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0005830	Flexion contracture of toe	4	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0012385	Camptodactyly	4	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0005684	Distal arthrogryposis	4	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare		270
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0003549	HP:0012385	Camptodactyly	4	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0003549	HP:0012385	Camptodactyly	4	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0003549	HP:0012785	Flexion contracture of finger	4	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			34
HP:0003549	HP:0001012	Multiple lipomas	4	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II	.		16
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003549	HP:0012385	Camptodactyly	4	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0003549	HP:0012385	Camptodactyly	4	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		15
HP:0003549	HP:0012385	Camptodactyly	4	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		92
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0003549	HP:0005750	Lower-limb joint contracture	4	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0003549	HP:0012385	Camptodactyly	4	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0012385	Camptodactyly	4	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0012785	Flexion contracture of finger	4	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0012385	Camptodactyly	4	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0100360	Upper-limb joint contracture	4	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003549	HP:0012385	Camptodactyly	4	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0003549	HP:0012385	Camptodactyly	4	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0003549	HP:0100360	Upper-limb joint contracture	4	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0012385	Camptodactyly	4	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0012785	Flexion contracture of finger	4	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0100360	Upper-limb joint contracture	4	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0005750	Lower-limb joint contracture	4	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0012785	Flexion contracture of finger	4	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0012385	Camptodactyly	4	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0012785	Flexion contracture of finger	4	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0100360	Upper-limb joint contracture	4	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:0005750	Lower-limb joint contracture	4	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:0012385	Camptodactyly	4	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:0012785	Flexion contracture of finger	4	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:0100360	Upper-limb joint contracture	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis			2
HP:0003549	HP:0005750	Lower-limb joint contracture	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis			2
HP:0003549	HP:0012385	Camptodactyly	4	HOXD13 CL E G H	3239	5136	OMIM:610713	BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD			25
HP:0003549	HP:0100360	Upper-limb joint contracture	4	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5			25
HP:0003549	HP:0012385	Camptodactyly	4	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5			25
HP:0003549	HP:0012785	Flexion contracture of finger	4	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5			25
HP:0003549	HP:0100360	Upper-limb joint contracture	4	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V			25
HP:0003549	HP:0012385	Camptodactyly	4	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V			25
HP:0003549	HP:0012785	Flexion contracture of finger	4	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V			25
HP:0003549	HP:0100360	Upper-limb joint contracture	4	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0012385	Camptodactyly	4	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0012785	Flexion contracture of finger	4	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0005750	Lower-limb joint contracture	4	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0003549	HP:0100360	Upper-limb joint contracture	4	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003549	HP:0005750	Lower-limb joint contracture	4	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003549	HP:0012385	Camptodactyly	4	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		8
HP:0003549	HP:0100360	Upper-limb joint contracture	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0003549	HP:0012385	Camptodactyly	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0003549	HP:0012785	Flexion contracture of finger	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0003549	HP:0100360	Upper-limb joint contracture	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0003549	HP:0005750	Lower-limb joint contracture	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003549	HP:0005830	Flexion contracture of toe	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0003549	HP:0100360	Upper-limb joint contracture	4	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003549	HP:0005750	Lower-limb joint contracture	4	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003549	HP:0005830	Flexion contracture of toe	4	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0003549	HP:0012385	Camptodactyly	4	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0003549	HP:0100360	Upper-limb joint contracture	4	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0012385	Camptodactyly	4	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0012785	Flexion contracture of finger	4	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0100360	Upper-limb joint contracture	4	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0012385	Camptodactyly	4	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0012785	Flexion contracture of finger	4	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0100360	Upper-limb joint contracture	4	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0003549	HP:0012385	Camptodactyly	4	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0003549	HP:0012785	Flexion contracture of finger	4	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0003549	HP:0100360	Upper-limb joint contracture	4	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0012385	Camptodactyly	4	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0012785	Flexion contracture of finger	4	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0100360	Upper-limb joint contracture	4	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0003549	HP:0012385	Camptodactyly	4	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0003549	HP:0012785	Flexion contracture of finger	4	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0003549	HP:0100360	Upper-limb joint contracture	4	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0012385	Camptodactyly	4	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0012785	Flexion contracture of finger	4	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0100360	Upper-limb joint contracture	4	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0003549	HP:0012385	Camptodactyly	4	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0003549	HP:0005750	Lower-limb joint contracture	4	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0003549	HP:0100360	Upper-limb joint contracture	4	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0012385	Camptodactyly	4	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0005750	Lower-limb joint contracture	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0005830	Flexion contracture of toe	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0012385	Camptodactyly	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0100360	Upper-limb joint contracture	4	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis			4
HP:0003549	HP:0005750	Lower-limb joint contracture	4	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis			4
HP:0003549	HP:0012385	Camptodactyly	4	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0003549	HP:0012385	Camptodactyly	4	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional		3
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0003549	HP:0012785	Flexion contracture of finger	4	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0003549	HP:0100360	Upper-limb joint contracture	4	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0003549	HP:0005750	Lower-limb joint contracture	4	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0003549	HP:0005750	Lower-limb joint contracture	4	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0003549	HP:0005830	Flexion contracture of toe	4	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0003549	HP:0012385	Camptodactyly	4	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0003549	HP:0012385	Camptodactyly	4	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0003549	HP:0012785	Flexion contracture of finger	4	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent		141
HP:0003549	HP:0005750	Lower-limb joint contracture	4	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0003549	HP:0005750	Lower-limb joint contracture	4	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		80
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0003549	HP:0012385	Camptodactyly	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0003549	HP:0012785	Flexion contracture of finger	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0003549	HP:0005750	Lower-limb joint contracture	4	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0003549	HP:0000292	Loss of facial adipose tissue	4	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.		3
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0005750	Lower-limb joint contracture	4	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0005879	Congenital finger flexion contractures	4	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional		4
HP:0003549	HP:0012385	Camptodactyly	4	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0012785	Flexion contracture of finger	4	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0012385	Camptodactyly	4	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0012785	Flexion contracture of finger	4	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0003549	HP:0012385	Camptodactyly	4	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0003549	HP:0012785	Flexion contracture of finger	4	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0005750	Lower-limb joint contracture	4	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG			4
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.		9
HP:0003549	HP:0012385	Camptodactyly	4	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040283 - Occasional		276
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0003549	HP:0012385	Camptodactyly	4	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		3
HP:0003549	HP:0012385	Camptodactyly	4	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		14
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		28
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		13
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040284 - Very rare		13
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	HP:0040283 - Occasional		13
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		13
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0003549	HP:0012385	Camptodactyly	4	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	.		42
HP:0003549	HP:0005750	Lower-limb joint contracture	4	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0003549	HP:0012032	Lipoma	4	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0003549	HP:0012785	Flexion contracture of finger	4	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0003549	HP:0001012	Multiple lipomas	4	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		196
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0003549	HP:0012385	Camptodactyly	4	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0003549	HP:0012785	Flexion contracture of finger	4	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:0012785	Flexion contracture of finger	4	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0003549	HP:0012385	Camptodactyly	4	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0003549	HP:0012785	Flexion contracture of finger	4	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0003549	HP:0012385	Camptodactyly	4	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0003549	HP:0012785	Flexion contracture of finger	4	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0003549	HP:0005750	Lower-limb joint contracture	4	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0003549	HP:0100360	Upper-limb joint contracture	4	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0003549	HP:0005750	Lower-limb joint contracture	4	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0003549	HP:0100360	Upper-limb joint contracture	4	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0003549	HP:0012785	Flexion contracture of finger	4	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0003549	HP:0100360	Upper-limb joint contracture	4	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0003549	HP:0012385	Camptodactyly	4	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0003549	HP:0012785	Flexion contracture of finger	4	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0012385	Camptodactyly	4	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0012385	Camptodactyly	4	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0012785	Flexion contracture of finger	4	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0003549	HP:0005750	Lower-limb joint contracture	4	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0003549	HP:0005750	Lower-limb joint contracture	4	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0003549	HP:0012385	Camptodactyly	4	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0003549	HP:0001012	Multiple lipomas	4	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis	HP:0040283 - Occasional		68
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0012385	Camptodactyly	4	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0012785	Flexion contracture of finger	4	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0012385	Camptodactyly	4	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0012785	Flexion contracture of finger	4	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0003549	HP:0005684	Distal arthrogryposis	4	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0003549	HP:0005750	Lower-limb joint contracture	4	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0003549	HP:0012385	Camptodactyly	4	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003549	HP:0005750	Lower-limb joint contracture	4	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003549	HP:0012385	Camptodactyly	4	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003549	HP:0012785	Flexion contracture of finger	4	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0005750	Lower-limb joint contracture	4	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0005830	Flexion contracture of toe	4	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0003549	HP:0012385	Camptodactyly	4	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0012785	Flexion contracture of finger	4	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040280 - Obligate		7
HP:0003549	HP:0009017	Loss of gluteal subcutaneous adipose tissue	4	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent		7
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0003549	HP:0012385	Camptodactyly	4	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0003549	HP:0012785	Flexion contracture of finger	4	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0003549	HP:0005750	Lower-limb joint contracture	4	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0003549	HP:0012385	Camptodactyly	4	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0005750	Lower-limb joint contracture	4	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0005750	Lower-limb joint contracture	4	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent		645
HP:0003549	HP:0003717	Minimal subcutaneous fat	4	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent		645
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0003549	HP:0005750	Lower-limb joint contracture	4	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive			645
HP:0003549	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040282 - Frequent		645
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.		645
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		645
HP:0003549	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0003549	HP:0009002	Loss of truncal subcutaneous adipose tissue	4	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0003549	HP:0012385	Camptodactyly	4	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0003549	HP:0012385	Camptodactyly	4	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0012785	Flexion contracture of finger	4	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0000292	Loss of facial adipose tissue	4	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0003549	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0003549	HP:0009002	Loss of truncal subcutaneous adipose tissue	4	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.		11
HP:0003549	HP:0009019	Progressive loss of facial adipose tissue	4	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.		11
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		11
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0005750	Lower-limb joint contracture	4	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0012785	Flexion contracture of finger	4	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0100360	Upper-limb joint contracture	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0012385	Camptodactyly	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0003549	HP:0012385	Camptodactyly	4	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0003549	HP:0012385	Camptodactyly	4	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0003549	HP:0012385	Camptodactyly	4	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003549	HP:0012385	Camptodactyly	4	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003549	HP:0012785	Flexion contracture of finger	4	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	HP:0040284 - Very rare		63
HP:0003549	HP:0012385	Camptodactyly	4	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0012785	Flexion contracture of finger	4	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003549	HP:0012385	Camptodactyly	4	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003549	HP:0012785	Flexion contracture of finger	4	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0003549	HP:0012385	Camptodactyly	4	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0012385	Camptodactyly	4	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0012785	Flexion contracture of finger	4	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0012385	Camptodactyly	4	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0012785	Flexion contracture of finger	4	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0003549	HP:0012385	Camptodactyly	4	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0003549	HP:0012785	Flexion contracture of finger	4	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0003549	HP:0012385	Camptodactyly	4	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0003549	HP:0005684	Distal arthrogryposis	4	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0003549	HP:0012385	Camptodactyly	4	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0012385	Camptodactyly	4	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0012785	Flexion contracture of finger	4	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0012385	Camptodactyly	4	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0003549	HP:0012785	Flexion contracture of finger	4	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0012385	Camptodactyly	4	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:0003549	HP:0012785	Flexion contracture of finger	4	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0003549	HP:0012385	Camptodactyly	4	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0003549	HP:0012785	Flexion contracture of finger	4	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0003549	HP:0012385	Camptodactyly	4	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.		13
HP:0003549	HP:0001012	Multiple lipomas	4	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0003549	HP:0001012	Multiple lipomas	4	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		462
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0012385	Camptodactyly	4	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0012785	Flexion contracture of finger	4	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0012385	Camptodactyly	4	MET CL E G H	4233	7029	OMIM:620019				375
HP:0003549	HP:0001012	Multiple lipomas	4	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040281 - Very frequent		203
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0012385	Camptodactyly	4	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0012785	Flexion contracture of finger	4	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0005830	Flexion contracture of toe	4	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0012385	Camptodactyly	4	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0012785	Flexion contracture of finger	4	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0012385	Camptodactyly	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0005879	Congenital finger flexion contractures	4	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0003549	HP:0012385	Camptodactyly	4	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0012785	Flexion contracture of finger	4	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent		8
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0003549	HP:0012385	Camptodactyly	4	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0003549	HP:0012032	Lipoma	4	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0003549	HP:0001012	Multiple lipomas	4	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040283 - Occasional
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0003549	HP:0012385	Camptodactyly	4	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0012385	Camptodactyly	4	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0012785	Flexion contracture of finger	4	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0012785	Flexion contracture of finger	4	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B			66
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B	.		66
HP:0003549	HP:0005684	Distal arthrogryposis	4	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B	HP:0040280 - Obligate		66
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B			66
HP:0003549	HP:0012385	Camptodactyly	4	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B	.		66
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0003549	HP:0012385	Camptodactyly	4	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0003549	HP:0012785	Flexion contracture of finger	4	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0003549	HP:0005684	Distal arthrogryposis	4	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4	.		66
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0005830	Flexion contracture of toe	4	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0003549	HP:0012385	Camptodactyly	4	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0003549	HP:0012785	Flexion contracture of finger	4	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0012385	Camptodactyly	4	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3	.		166
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0003549	HP:0012385	Camptodactyly	4	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0012785	Flexion contracture of finger	4	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.		166
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0003549	HP:0012385	Camptodactyly	4	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.		166
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0003549	HP:0012385	Camptodactyly	4	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0003549	HP:0012785	Flexion contracture of finger	4	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0003549	HP:0012385	Camptodactyly	4	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0003549	HP:0012785	Flexion contracture of finger	4	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.		93
HP:0003549	HP:0005684	Distal arthrogryposis	4	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.		93
HP:0003549	HP:0005684	Distal arthrogryposis	4	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT			93
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0005830	Flexion contracture of toe	4	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0012385	Camptodactyly	4	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0012785	Flexion contracture of finger	4	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0003549	HP:0012785	Flexion contracture of finger	4	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0003549	HP:0005684	Distal arthrogryposis	4	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0003549	HP:0012385	Camptodactyly	4	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0003549	HP:0100360	Upper-limb joint contracture	4	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0003549	HP:0012385	Camptodactyly	4	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0012785	Flexion contracture of finger	4	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0005684	Distal arthrogryposis	4	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0003549	HP:0005750	Lower-limb joint contracture	4	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		217
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0003549	HP:0012385	Camptodactyly	4	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0003549	HP:0012785	Flexion contracture of finger	4	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0003549	HP:0012385	Camptodactyly	4	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0003549	HP:0003717	Minimal subcutaneous fat	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0003549	HP:0005750	Lower-limb joint contracture	4	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0003549	HP:0012385	Camptodactyly	4	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0003549	HP:0012385	Camptodactyly	4	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0003549	HP:0012785	Flexion contracture of finger	4	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0003549	HP:0012385	Camptodactyly	4	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0003549	HP:0012785	Flexion contracture of finger	4	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0003549	HP:0005750	Lower-limb joint contracture	4	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0003549	HP:0001012	Multiple lipomas	4	ND5 CL E G H	4540	7461	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		745
HP:0003549	HP:0005750	Lower-limb joint contracture	4	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040284 - Very rare		745
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		745
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0003549	HP:0012785	Flexion contracture of finger	4	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional		118
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.		9
HP:0003549	HP:0012385	Camptodactyly	4	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.		9
HP:0003549	HP:0005750	Lower-limb joint contracture	4	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0003549	HP:0012385	Camptodactyly	4	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0012385	Camptodactyly	4	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0012785	Flexion contracture of finger	4	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0005750	Lower-limb joint contracture	4	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0005830	Flexion contracture of toe	4	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome	.		187
HP:0003549	HP:0012385	Camptodactyly	4	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0003549	HP:0012385	Camptodactyly	4	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0012785	Flexion contracture of finger	4	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0003549	HP:0012785	Flexion contracture of finger	4	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0003549	HP:0012385	Camptodactyly	4	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0003549	HP:0012785	Flexion contracture of finger	4	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0003549	HP:0005684	Distal arthrogryposis	4	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0005750	Lower-limb joint contracture	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0012385	Camptodactyly	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0012785	Flexion contracture of finger	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0012385	Camptodactyly	4	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0012785	Flexion contracture of finger	4	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0012385	Camptodactyly	4	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		6
HP:0003549	HP:0005750	Lower-limb joint contracture	4	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0003549	HP:0005750	Lower-limb joint contracture	4	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0003549	HP:0005830	Flexion contracture of toe	4	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent		15
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0012385	Camptodactyly	4	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0012785	Flexion contracture of finger	4	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:0012385	Camptodactyly	4	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:0012785	Flexion contracture of finger	4	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:0012385	Camptodactyly	4	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0003549	HP:0012385	Camptodactyly	4	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0012785	Flexion contracture of finger	4	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0003549	HP:0012385	Camptodactyly	4	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0003549	HP:0100360	Upper-limb joint contracture	4	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0012385	Camptodactyly	4	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0012785	Flexion contracture of finger	4	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0012385	Camptodactyly	4	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:0012385	Camptodactyly	4	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:0012785	Flexion contracture of finger	4	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:0005750	Lower-limb joint contracture	4	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0003549	HP:0012385	Camptodactyly	4	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0003549	HP:0012785	Flexion contracture of finger	4	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0003549	HP:0012385	Camptodactyly	4	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0003549	HP:0012385	Camptodactyly	4	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0003549	HP:0012785	Flexion contracture of finger	4	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0003549	HP:0012385	Camptodactyly	4	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0003549	HP:0012385	Camptodactyly	4	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0003549	HP:0012785	Flexion contracture of finger	4	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0003549	HP:0100360	Upper-limb joint contracture	4	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0012385	Camptodactyly	4	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0012385	Camptodactyly	4	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003549	HP:0100360	Upper-limb joint contracture	4	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0003549	HP:0005750	Lower-limb joint contracture	4	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0003549	HP:0012385	Camptodactyly	4	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0003549	HP:0012785	Flexion contracture of finger	4	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0003549	HP:0012385	Camptodactyly	4	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0003549	HP:0012785	Flexion contracture of finger	4	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0003549	HP:0012385	Camptodactyly	4	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0003549	HP:0012785	Flexion contracture of finger	4	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0012385	Camptodactyly	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:0012385	Camptodactyly	4	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:0012785	Flexion contracture of finger	4	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:0012385	Camptodactyly	4	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0003549	HP:0012385	Camptodactyly	4	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:0012385	Camptodactyly	4	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:0012785	Flexion contracture of finger	4	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0003549	HP:0005830	Flexion contracture of toe	4	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0003549	HP:0012385	Camptodactyly	4	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0003549	HP:0012385	Camptodactyly	4	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0003549	HP:0005684	Distal arthrogryposis	4	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		11
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	.		11
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0003549	HP:0005684	Distal arthrogryposis	4	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0005830	Flexion contracture of toe	4	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0012385	Camptodactyly	4	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0012785	Flexion contracture of finger	4	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0003549	HP:0005684	Distal arthrogryposis	4	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0003549	HP:0005879	Congenital finger flexion contractures	4	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0003549	HP:0012385	Camptodactyly	4	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0012785	Flexion contracture of finger	4	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0012385	Camptodactyly	4	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0005879	Congenital finger flexion contractures	4	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent		77
HP:0003549	HP:0012385	Camptodactyly	4	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0012785	Flexion contracture of finger	4	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0003549	HP:0012385	Camptodactyly	4	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0003549	HP:0012785	Flexion contracture of finger	4	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0003549	HP:0012385	Camptodactyly	4	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0012385	Camptodactyly	4	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0003549	HP:0012785	Flexion contracture of finger	4	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0012385	Camptodactyly	4	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0003549	HP:0012785	Flexion contracture of finger	4	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0003549	HP:0005830	Flexion contracture of toe	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0003549	HP:0012032	Lipoma	4	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	HP:0040282 - Frequent		162
HP:0003549	HP:0012032	Lipoma	4	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0003549	HP:0001012	Multiple lipomas	4	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0003549	HP:0001012	Multiple lipomas	4	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional		162
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3			1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly			8
HP:0003549	HP:0012785	Flexion contracture of finger	4	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly			8
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0003549	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040281 - Very frequent		19
HP:0003549	HP:0009017	Loss of gluteal subcutaneous adipose tissue	4	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040281 - Very frequent		19
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003549	HP:0031158	Widened atrophic scar	4	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent		45
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0012385	Camptodactyly	4	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0012785	Flexion contracture of finger	4	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0003549	HP:0000292	Loss of facial adipose tissue	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0003549	HP:0100360	Upper-limb joint contracture	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0003549	HP:0012385	Camptodactyly	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0012785	Flexion contracture of finger	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0100360	Upper-limb joint contracture	4	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0012385	Camptodactyly	4	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0012785	Flexion contracture of finger	4	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0005750	Lower-limb joint contracture	4	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0003549	HP:0100360	Upper-limb joint contracture	4	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0003549	HP:0012385	Camptodactyly	4	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0003549	HP:0012385	Camptodactyly	4	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		76
HP:0003549	HP:0100360	Upper-limb joint contracture	4	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0003549	HP:0012385	Camptodactyly	4	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:0012385	Camptodactyly	4	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:0012785	Flexion contracture of finger	4	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0003549	HP:0009017	Loss of gluteal subcutaneous adipose tissue	4	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0003549	HP:0000292	Loss of facial adipose tissue	4	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional		42
HP:0003549	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent		42
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0005830	Flexion contracture of toe	4	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0012385	Camptodactyly	4	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.		2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0003549	HP:0012385	Camptodactyly	4	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0003549	HP:0012385	Camptodactyly	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0003549	HP:0012785	Flexion contracture of finger	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0003549	HP:0012385	Camptodactyly	4	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional		58
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0005879	Congenital finger flexion contractures	4	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.		6
HP:0003549	HP:0012385	Camptodactyly	4	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0012785	Flexion contracture of finger	4	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0005830	Flexion contracture of toe	4	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0012385	Camptodactyly	4	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0012785	Flexion contracture of finger	4	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0012385	Camptodactyly	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0012385	Camptodactyly	4	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		9
HP:0003549	HP:0012385	Camptodactyly	4	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		34
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0003549	HP:0000292	Loss of facial adipose tissue	4	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0005830	Flexion contracture of toe	4	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0003549	HP:0012385	Camptodactyly	4	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0012785	Flexion contracture of finger	4	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:0012032	Lipoma	4	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040281 - Very frequent		948
HP:0003549	HP:0012032	Lipoma	4	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0003549	HP:0001012	Multiple lipomas	4	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0003549	HP:0001012	Multiple lipomas	4	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0003549	HP:0012032	Lipoma	4	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0003549	HP:0001012	Multiple lipomas	4	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003549	HP:0100360	Upper-limb joint contracture	4	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0005750	Lower-limb joint contracture	4	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0012785	Flexion contracture of finger	4	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0003549	HP:0012385	Camptodactyly	4	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1	.		31
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0012385	Camptodactyly	4	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0012785	Flexion contracture of finger	4	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0003549	HP:0012385	Camptodactyly	4	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0012785	Flexion contracture of finger	4	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	HP:0040283 - Occasional		73
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0003549	HP:0005684	Distal arthrogryposis	4	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0003549	HP:0005750	Lower-limb joint contracture	4	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0003549	HP:0011084	Hypocalcification of dental enamel	4	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0003549	HP:0012385	Camptodactyly	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0003549	HP:0012785	Flexion contracture of finger	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional		3
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040281 - Very frequent		92
HP:0003549	HP:0012385	Camptodactyly	4	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0012385	Camptodactyly	4	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0012785	Flexion contracture of finger	4	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003549	HP:0005750	Lower-limb joint contracture	4	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0003549	HP:0001012	Multiple lipomas	4	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0003549	HP:0005750	Lower-limb joint contracture	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0003549	HP:0005750	Lower-limb joint contracture	4	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0003549	HP:0005750	Lower-limb joint contracture	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0012385	Camptodactyly	4	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0012785	Flexion contracture of finger	4	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0003549	HP:0012385	Camptodactyly	4	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0012385	Camptodactyly	4	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0012785	Flexion contracture of finger	4	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0005750	Lower-limb joint contracture	4	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0003549	HP:0012032	Lipoma	4	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0003549	HP:0005750	Lower-limb joint contracture	4	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0003549	HP:0012032	Lipoma	4	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0003549	HP:0012385	Camptodactyly	4	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent		10
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0003549	HP:0012385	Camptodactyly	4	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0003549	HP:0012785	Flexion contracture of finger	4	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003549	HP:0012385	Camptodactyly	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003549	HP:0012785	Flexion contracture of finger	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003549	HP:0100360	Upper-limb joint contracture	4	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0005750	Lower-limb joint contracture	4	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0012385	Camptodactyly	4	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0012785	Flexion contracture of finger	4	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0005750	Lower-limb joint contracture	4	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0003549	HP:0005750	Lower-limb joint contracture	4	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0003549	HP:0012385	Camptodactyly	4	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0003549	HP:0012385	Camptodactyly	4	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0005830	Flexion contracture of toe	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0012385	Camptodactyly	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0012785	Flexion contracture of finger	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0003549	HP:0012032	Lipoma	4	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0003549	HP:0012032	Lipoma	4	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0003549	HP:0012032	Lipoma	4	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0003549	HP:0012032	Lipoma	4	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0003549	HP:0012785	Flexion contracture of finger	4	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0003549	HP:0012385	Camptodactyly	4	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0012385	Camptodactyly	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0012785	Flexion contracture of finger	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3			132
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0012385	Camptodactyly	4	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0003549	HP:0012385	Camptodactyly	4	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0012785	Flexion contracture of finger	4	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0003549	HP:0012385	Camptodactyly	4	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0003549	HP:0012785	Flexion contracture of finger	4	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040280 - Obligate		2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0012785	Flexion contracture of finger	4	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0003549	HP:0012385	Camptodactyly	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0003549	HP:0012785	Flexion contracture of finger	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0003717	Minimal subcutaneous fat	4	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.		150
HP:0003549	HP:0012385	Camptodactyly	4	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0012385	Camptodactyly	4	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0012785	Flexion contracture of finger	4	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0003549	HP:0012385	Camptodactyly	4	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0012785	Flexion contracture of finger	4	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic			2
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)	.		36
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0003549	HP:0012385	Camptodactyly	4	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent		166
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0003549	HP:0012385	Camptodactyly	4	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003549	HP:0012785	Flexion contracture of finger	4	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0012385	Camptodactyly	4	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0012785	Flexion contracture of finger	4	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0012385	Camptodactyly	4	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040282 - Frequent		68
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0005830	Flexion contracture of toe	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0012385	Camptodactyly	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0012785	Flexion contracture of finger	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003549	HP:0012385	Camptodactyly	4	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003549	HP:0012785	Flexion contracture of finger	4	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0003549	HP:0012385	Camptodactyly	4	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0003549	HP:0012785	Flexion contracture of finger	4	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0003549	HP:0001073	Cigarette-paper scars	4	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0012385	Camptodactyly	4	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0012785	Flexion contracture of finger	4	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	HP:0040283 - Occasional		9
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040283 - Occasional		93
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0012385	Camptodactyly	4	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0012785	Flexion contracture of finger	4	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0100645	Cystocele	4	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0012385	Camptodactyly	4	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0003549	HP:0012385	Camptodactyly	4	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0003549	HP:0012385	Camptodactyly	4	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0003549	HP:0012785	Flexion contracture of finger	4	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0012385	Camptodactyly	4	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0012785	Flexion contracture of finger	4	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0012385	Camptodactyly	4	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0012785	Flexion contracture of finger	4	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0012385	Camptodactyly	4	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0012385	Camptodactyly	4	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0012785	Flexion contracture of finger	4	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0012785	Flexion contracture of finger	4	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0003549	HP:0012385	Camptodactyly	4	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare		19
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0003549	HP:0012385	Camptodactyly	4	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0003549	HP:0012385	Camptodactyly	4	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.		14
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040283 - Occasional		61
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:0012785	Flexion contracture of finger	4	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:0012385	Camptodactyly	4	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0003549	HP:0012385	Camptodactyly	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0003549	HP:0012785	Flexion contracture of finger	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		287
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		287
HP:0003549	HP:0001012	Multiple lipomas	4	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0003549	HP:0001012	Multiple lipomas	4	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.		136
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0003549	HP:0012385	Camptodactyly	4	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		5
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		54
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		54
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0003549	HP:0005684	Distal arthrogryposis	4	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		50
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent		14
HP:0003549	HP:0012385	Camptodactyly	4	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040284 - Very rare		14
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0003549	HP:0005750	Lower-limb joint contracture	4	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0003549	HP:0012385	Camptodactyly	4	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0012385	Camptodactyly	4	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0012785	Flexion contracture of finger	4	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0012785	Flexion contracture of finger	4	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0003549	HP:0012785	Flexion contracture of finger	4	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0003549	HP:0012785	Flexion contracture of finger	4	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0003549	HP:0100360	Upper-limb joint contracture	4	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0003549	HP:0005750	Lower-limb joint contracture	4	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0003549	HP:0012385	Camptodactyly	4	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		6
HP:0003549	HP:0012385	Camptodactyly	4	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		34
HP:0003549	HP:0012032	Lipoma	4	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional		21
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0005830	Flexion contracture of toe	4	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0012385	Camptodactyly	4	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0012785	Flexion contracture of finger	4	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0003549	HP:0012385	Camptodactyly	4	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0003549	HP:0012785	Flexion contracture of finger	4	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0003549	HP:0012385	Camptodactyly	4	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0003549	HP:0012385	Camptodactyly	4	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0012785	Flexion contracture of finger	4	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0001012	Multiple lipomas	4	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0003549	HP:0012032	Lipoma	4	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0003549	HP:0012385	Camptodactyly	4	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.		31
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0003549	HP:0012385	Camptodactyly	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0003549	HP:0012785	Flexion contracture of finger	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0003549	HP:0012385	Camptodactyly	4	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0003549	HP:0012385	Camptodactyly	4	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0003549	HP:0012785	Flexion contracture of finger	4	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0005830	Flexion contracture of toe	4	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0005879	Congenital finger flexion contractures	4	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0012385	Camptodactyly	4	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0012785	Flexion contracture of finger	4	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0012385	Camptodactyly	4	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0012785	Flexion contracture of finger	4	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0012385	Camptodactyly	4	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0012385	Camptodactyly	4	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0012785	Flexion contracture of finger	4	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003549	HP:0012385	Camptodactyly	4	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003549	HP:0012385	Camptodactyly	4	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0012385	Camptodactyly	4	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0012785	Flexion contracture of finger	4	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0003549	HP:0012785	Flexion contracture of finger	4	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0003549	HP:0012385	Camptodactyly	4	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0003549	HP:0012785	Flexion contracture of finger	4	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0003549	HP:0005684	Distal arthrogryposis	4	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0003549	HP:0012385	Camptodactyly	4	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0012785	Flexion contracture of finger	4	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0003549	HP:0012385	Camptodactyly	4	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0003549	HP:0012785	Flexion contracture of finger	4	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0003549	HP:0012385	Camptodactyly	4	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2	.		43
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0003549	HP:0012385	Camptodactyly	4	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0003549	HP:0012785	Flexion contracture of finger	4	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0012385	Camptodactyly	4	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0012385	Camptodactyly	4	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0012785	Flexion contracture of finger	4	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0012385	Camptodactyly	4	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome			140
HP:0003549	HP:0012385	Camptodactyly	4	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.		140
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0003549	HP:0012385	Camptodactyly	4	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		54
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0003549	HP:0012785	Flexion contracture of finger	4	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0003549	HP:0012385	Camptodactyly	4	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0003549	HP:0012785	Flexion contracture of finger	4	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		108
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0003549	HP:0012785	Flexion contracture of finger	4	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040284 - Very rare		108
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0012385	Camptodactyly	4	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0003549	HP:0001012	Multiple lipomas	4	TRNF CL E G H	4558	7481	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0003549	HP:0001012	Multiple lipomas	4	TRNH CL E G H	4564	7487	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0003549	HP:0001012	Multiple lipomas	4	TRNK CL E G H	4566	7489	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0003549	HP:0001012	Multiple lipomas	4	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0003549	HP:0001012	Multiple lipomas	4	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0003549	HP:0001012	Multiple lipomas	4	TRNP CL E G H	4571	7494	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0003549	HP:0001012	Multiple lipomas	4	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0003549	HP:0001012	Multiple lipomas	4	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0003549	HP:0001012	Multiple lipomas	4	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0003549	HP:0012385	Camptodactyly	4	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0003549	HP:0012785	Flexion contracture of finger	4	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	HP:0040284 - Very rare		214
HP:0003549	HP:0012385	Camptodactyly	4	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003549	HP:0012785	Flexion contracture of finger	4	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent		102
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0003549	HP:0005750	Lower-limb joint contracture	4	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		106
HP:0003549	HP:0012385	Camptodactyly	4	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0012785	Flexion contracture of finger	4	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0003549	HP:0012385	Camptodactyly	4	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0003549	HP:0012785	Flexion contracture of finger	4	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0003549	HP:0100360	Upper-limb joint contracture	4	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0012385	Camptodactyly	4	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0012785	Flexion contracture of finger	4	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0012385	Camptodactyly	4	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0003549	HP:0100360	Upper-limb joint contracture	4	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0003549	HP:0005750	Lower-limb joint contracture	4	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003549	HP:0012785	Flexion contracture of finger	4	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0003549	HP:0100360	Upper-limb joint contracture	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0012385	Camptodactyly	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0005750	Lower-limb joint contracture	4	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0003549	HP:0100360	Upper-limb joint contracture	4	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0003549	HP:0005750	Lower-limb joint contracture	4	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0003549	HP:0100360	Upper-limb joint contracture	4	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0003549	HP:0012385	Camptodactyly	4	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0003549	HP:0012785	Flexion contracture of finger	4	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0003549	HP:0100360	Upper-limb joint contracture	4	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0003549	HP:0012032	Lipoma	4	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0003549	HP:0001012	Multiple lipomas	4	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.		111
HP:0003549	HP:0012032	Lipoma	4	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.		111
HP:0003549	HP:0012032	Lipoma	4	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele			111
HP:0003549	HP:0001012	Multiple lipomas	4	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.		2
HP:0003549	HP:0012032	Lipoma	4	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.		2
HP:0003549	HP:0005750	Lower-limb joint contracture	4	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0003549	HP:0012385	Camptodactyly	4	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040283 - Occasional		10
HP:0003549	HP:0005750	Lower-limb joint contracture	4	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0003549	HP:0100360	Upper-limb joint contracture	4	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0012385	Camptodactyly	4	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	4	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0011085	Hypomature dental enamel	4	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3	.		137
HP:0003549	HP:0100360	Upper-limb joint contracture	4	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0012385	Camptodactyly	4	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0012785	Flexion contracture of finger	4	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0100360	Upper-limb joint contracture	4	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0003549	HP:0012385	Camptodactyly	4	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0003549	HP:0012385	Camptodactyly	4	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0003549	HP:0100360	Upper-limb joint contracture	4	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0012385	Camptodactyly	4	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0012785	Flexion contracture of finger	4	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0100360	Upper-limb joint contracture	4	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0003549	HP:0100360	Upper-limb joint contracture	4	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0003549	HP:0012385	Camptodactyly	4	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0003549	HP:0012785	Flexion contracture of finger	4	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0003549	HP:0005684	Distal arthrogryposis	4	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0003549	HP:0005684	Distal arthrogryposis	4	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0003549	HP:0005745	Congenital foot contractures	4	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040281 - Very frequent		19
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	HP:0003577 - Congenital onset	19
HP:0003549	HP:0005745	Congenital foot contractures	4	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0003549	HP:0012385	Camptodactyly	4	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0003549	HP:0005750	Lower-limb joint contracture	4	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0003549	HP:0012385	Camptodactyly	4	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0003549	HP:0012785	Flexion contracture of finger	4	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0003549	HP:0012785	Flexion contracture of finger	4	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0003549	HP:0012385	Camptodactyly	4	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0003549	HP:0012385	Camptodactyly	4	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0003549	HP:0007485	Absence of subcutaneous fat	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		83
HP:0003549	HP:0000292	Loss of facial adipose tissue	4	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0003549	HP:0003635	Loss of subcutaneous adipose tissue in limbs	4	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0003549	HP:0005995	Decreased adipose tissue around neck	4	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0003549	HP:0009002	Loss of truncal subcutaneous adipose tissue	4	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0003549	HP:0012385	Camptodactyly	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0012785	Flexion contracture of finger	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.		60
HP:0003549	HP:0100360	Upper-limb joint contracture	4	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0012385	Camptodactyly	4	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0012785	Flexion contracture of finger	4	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0012385	Camptodactyly	4	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional		397
HP:0003549	HP:0002804	Arthrogryposis multiplex congenita	4	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0012032	Lipoma	4	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.		5
HP:0003549	HP:0001012	Multiple lipomas	4	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0003549	HP:0006773	Cutaneous angiolipomas	5	CL E G H
HP:0003549	HP:0010212	Flexion contracture of the hallux	5	CL E G H
HP:0003549	HP:0010345	Flexion contracture of the 5th toe	5	CL E G H
HP:0003549	HP:0012268	Myxoid liposarcoma	5	CL E G H
HP:0003549	HP:0025476	Testicular lipomatosis	5	CL E G H
HP:0003549	HP:0030815	Lipoma of the tongue	5	CL E G H
HP:0003549	HP:0034009	Pelvic lipomatosis	5	CL E G H
HP:0003549	HP:0034394	Forearm supination contracture	5	CL E G H
HP:0003549	HP:0034395	Forearm pronation contracture	5	CL E G H
HP:0003549	HP:0040164	Lipomas of eyelids	5	CL E G H
HP:0003549	HP:0008366	Foot joint contracture	5	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0003549	HP:0003089	Hamstring contractures	5	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0003549	HP:0008366	Foot joint contracture	5	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0003549	HP:0034391	Elbow contracture	5	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0003549	HP:0003273	Hip contracture	5	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0003549	HP:0006380	Knee flexion contracture	5	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0003549	HP:0006466	Ankle flexion contracture	5	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0003549	HP:0009473	Joint contracture of the hand	5	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0003549	HP:0008366	Foot joint contracture	5	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0003549	HP:0034391	Elbow contracture	5	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0003549	HP:0003089	Hamstring contractures	5	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		96
HP:0003549	HP:0003273	Hip contracture	5	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		96
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0100490	Camptodactyly of finger	5	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional		23
HP:0003549	HP:0009473	Joint contracture of the hand	5	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0003549	HP:0100490	Camptodactyly of finger	5	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0009473	Joint contracture of the hand	5	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003549	HP:0001239	Wrist flexion contracture	5	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0003549	HP:0100490	Camptodactyly of finger	5	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0003549	HP:0009473	Joint contracture of the hand	5	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0100490	Camptodactyly of finger	5	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0008366	Foot joint contracture	5	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0009473	Joint contracture of the hand	5	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare		9
HP:0003549	HP:0001031	Subcutaneous lipoma	5	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0003549	HP:0006466	Ankle flexion contracture	5	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0003549	HP:0034391	Elbow contracture	5	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0003549	HP:0006380	Knee flexion contracture	5	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		12
HP:0003549	HP:0006380	Knee flexion contracture	5	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		46
HP:0003549	HP:0009473	Joint contracture of the hand	5	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0003549	HP:0008366	Foot joint contracture	5	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0100251	Multiple central nervous system lipomas	5	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0100490	Camptodactyly of finger	5	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent		5
HP:0003549	HP:0009473	Joint contracture of the hand	5	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0100251	Multiple central nervous system lipomas	5	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0007541	Frontal cutaneous lipoma	5	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0003549	HP:0009473	Joint contracture of the hand	5	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0100251	Multiple central nervous system lipomas	5	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0100490	Camptodactyly of finger	5	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0003549	HP:0009473	Joint contracture of the hand	5	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0008366	Foot joint contracture	5	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003549	HP:0009473	Joint contracture of the hand	5	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0003549	HP:0006380	Knee flexion contracture	5	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.		3
HP:0003549	HP:0001239	Wrist flexion contracture	5	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0003549	HP:0034391	Elbow contracture	5	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0003549	HP:0003089	Hamstring contractures	5	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0003549	HP:0006466	Ankle flexion contracture	5	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0003549	HP:0009473	Joint contracture of the hand	5	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003549	HP:0100490	Camptodactyly of finger	5	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0003549	HP:0009473	Joint contracture of the hand	5	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0100490	Camptodactyly of finger	5	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0003273	Hip contracture	5	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0003549	HP:0006466	Ankle flexion contracture	5	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0003549	HP:0009473	Joint contracture of the hand	5	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0003549	HP:0100490	Camptodactyly of finger	5	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040283 - Occasional		219
HP:0003549	HP:0009473	Joint contracture of the hand	5	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0100490	Camptodactyly of finger	5	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0009473	Joint contracture of the hand	5	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0001239	Wrist flexion contracture	5	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0100490	Camptodactyly of finger	5	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0009274	Joint contracture of the 4th finger	5	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0009473	Joint contracture of the hand	5	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0006466	Ankle flexion contracture	5	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0003549	HP:0006380	Knee flexion contracture	5	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0003549	HP:0034391	Elbow contracture	5	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0003549	HP:0009473	Joint contracture of the hand	5	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0003549	HP:0001239	Wrist flexion contracture	5	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0003549	HP:0034391	Elbow contracture	5	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0003549	HP:0034391	Elbow contracture	5	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0003549	HP:0006380	Knee flexion contracture	5	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.		204
HP:0003549	HP:0008366	Foot joint contracture	5	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0003549	HP:0100490	Camptodactyly of finger	5	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		101
HP:0003549	HP:0009473	Joint contracture of the hand	5	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0003549	HP:0009473	Joint contracture of the hand	5	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0003549	HP:0001836	Camptodactyly of toe	5	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0008366	Foot joint contracture	5	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0010327	Flexion contracture of the 2nd toe	5	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0010333	Flexion contracture of 3rd toe	5	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0008366	Foot joint contracture	5	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0003549	HP:0010327	Flexion contracture of the 2nd toe	5	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent		101
HP:0003549	HP:0010339	Flexion contracture of the 4th toe	5	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent		101
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0100490	Camptodactyly of finger	5	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0009473	Joint contracture of the hand	5	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0003273	Hip contracture	5	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	HP:0040283 - Occasional		46
HP:0003549	HP:0006380	Knee flexion contracture	5	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	HP:0040283 - Occasional		46
HP:0003549	HP:0008366	Foot joint contracture	5	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0003549	HP:0003273	Hip contracture	5	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0003549	HP:0009473	Joint contracture of the hand	5	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0003549	HP:0009600	Flexion contracture of thumb	5	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0003549	HP:0001031	Subcutaneous lipoma	5	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040284 - Very rare		385
HP:0003549	HP:0008366	Foot joint contracture	5	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0003549	HP:0006466	Ankle flexion contracture	5	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0003549	HP:0006380	Knee flexion contracture	5	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent		114
HP:0003549	HP:0006466	Ankle flexion contracture	5	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent		114
HP:0003549	HP:0009473	Joint contracture of the hand	5	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0003549	HP:0006380	Knee flexion contracture	5	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.		114
HP:0003549	HP:0006466	Ankle flexion contracture	5	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.		114
HP:0003549	HP:0001239	Wrist flexion contracture	5	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0003549	HP:0100490	Camptodactyly of finger	5	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		85
HP:0003549	HP:0009473	Joint contracture of the hand	5	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0001239	Wrist flexion contracture	5	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040283 - Occasional		323
HP:0003549	HP:0034391	Elbow contracture	5	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0100490	Camptodactyly of finger	5	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0003089	Hamstring contractures	5	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0003549	HP:0006466	Ankle flexion contracture	5	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0003549	HP:0009473	Joint contracture of the hand	5	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0003549	HP:0100490	Camptodactyly of finger	5	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0003549	HP:0009473	Joint contracture of the hand	5	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0003549	HP:0008366	Foot joint contracture	5	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional		11
HP:0003549	HP:0009473	Joint contracture of the hand	5	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional		11
HP:0003549	HP:0005320	Lack of facial subcutaneous fat	5	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0003549	HP:0009473	Joint contracture of the hand	5	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0003549	HP:0100490	Camptodactyly of finger	5	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0003549	HP:0009473	Joint contracture of the hand	5	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0003549	HP:0008366	Foot joint contracture	5	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0003549	HP:0009473	Joint contracture of the hand	5	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003549	HP:0100490	Camptodactyly of finger	5	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0003549	HP:0009473	Joint contracture of the hand	5	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0003549	HP:0009473	Joint contracture of the hand	5	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0003549	HP:0008366	Foot joint contracture	5	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0003549	HP:0009473	Joint contracture of the hand	5	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0003549	HP:0100490	Camptodactyly of finger	5	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		9
HP:0003549	HP:0009473	Joint contracture of the hand	5	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0003549	HP:0100490	Camptodactyly of finger	5	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		31
HP:0003549	HP:0009473	Joint contracture of the hand	5	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0003549	HP:0009473	Joint contracture of the hand	5	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	.		87
HP:0003549	HP:0001031	Subcutaneous lipoma	5	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0003549	HP:0100490	Camptodactyly of finger	5	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		50
HP:0003549	HP:0009473	Joint contracture of the hand	5	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0003549	HP:0006380	Knee flexion contracture	5	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0003549	HP:0006380	Knee flexion contracture	5	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0100490	Camptodactyly of finger	5	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0003549	HP:0009473	Joint contracture of the hand	5	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0001836	Camptodactyly of toe	5	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0003549	HP:0006380	Knee flexion contracture	5	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0008366	Foot joint contracture	5	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0034391	Elbow contracture	5	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003549	HP:0100490	Camptodactyly of finger	5	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0003549	HP:0009473	Joint contracture of the hand	5	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0003549	HP:0100490	Camptodactyly of finger	5	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0003549	HP:0009473	Joint contracture of the hand	5	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0003549	HP:0009473	Joint contracture of the hand	5	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.		40
HP:0003549	HP:0006380	Knee flexion contracture	5	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0003549	HP:0100490	Camptodactyly of finger	5	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0003549	HP:0009473	Joint contracture of the hand	5	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0100490	Camptodactyly of finger	5	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional		215
HP:0003549	HP:0009473	Joint contracture of the hand	5	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0009473	Joint contracture of the hand	5	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0100490	Camptodactyly of finger	5	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional		222
HP:0003549	HP:0009473	Joint contracture of the hand	5	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0003549	HP:0001239	Wrist flexion contracture	5	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0003549	HP:0034391	Elbow contracture	5	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0100490	Camptodactyly of finger	5	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0003549	HP:0006466	Ankle flexion contracture	5	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0003549	HP:0008366	Foot joint contracture	5	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0009473	Joint contracture of the hand	5	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0034391	Elbow contracture	5	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0003549	HP:0006380	Knee flexion contracture	5	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0034391	Elbow contracture	5	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0100490	Camptodactyly of finger	5	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0003044	Shoulder flexion contracture	5	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003549	HP:0006380	Knee flexion contracture	5	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003549	HP:0006466	Ankle flexion contracture	5	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003549	HP:0008366	Foot joint contracture	5	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003549	HP:0009473	Joint contracture of the hand	5	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003549	HP:0001239	Wrist flexion contracture	5	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent		3
HP:0003549	HP:0034391	Elbow contracture	5	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0003549	HP:0003273	Hip contracture	5	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0003549	HP:0006380	Knee flexion contracture	5	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent		3
HP:0003549	HP:0006466	Ankle flexion contracture	5	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent		3
HP:0003549	HP:0003273	Hip contracture	5	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0003549	HP:0009473	Joint contracture of the hand	5	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0003549	HP:0001239	Wrist flexion contracture	5	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0003549	HP:0034391	Elbow contracture	5	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0100490	Camptodactyly of finger	5	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0003549	HP:0006466	Ankle flexion contracture	5	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0003549	HP:0008366	Foot joint contracture	5	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0009473	Joint contracture of the hand	5	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0034391	Elbow contracture	5	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0100490	Camptodactyly of finger	5	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0003549	HP:0006466	Ankle flexion contracture	5	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0003549	HP:0009473	Joint contracture of the hand	5	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0034391	Elbow contracture	5	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0003549	HP:0006380	Knee flexion contracture	5	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0003549	HP:0001239	Wrist flexion contracture	5	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0003549	HP:0034391	Elbow contracture	5	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0100490	Camptodactyly of finger	5	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0003549	HP:0006466	Ankle flexion contracture	5	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0003549	HP:0008366	Foot joint contracture	5	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0009473	Joint contracture of the hand	5	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0034391	Elbow contracture	5	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0100490	Camptodactyly of finger	5	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0003549	HP:0006466	Ankle flexion contracture	5	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0003549	HP:0009473	Joint contracture of the hand	5	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0034391	Elbow contracture	5	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0003549	HP:0006380	Knee flexion contracture	5	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0003549	HP:0008366	Foot joint contracture	5	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0003549	HP:0001239	Wrist flexion contracture	5	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0003549	HP:0034391	Elbow contracture	5	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0100490	Camptodactyly of finger	5	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0003549	HP:0006466	Ankle flexion contracture	5	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0003549	HP:0008366	Foot joint contracture	5	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0009473	Joint contracture of the hand	5	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0034391	Elbow contracture	5	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0100490	Camptodactyly of finger	5	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0003549	HP:0006466	Ankle flexion contracture	5	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0003549	HP:0009473	Joint contracture of the hand	5	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0034391	Elbow contracture	5	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0003549	HP:0006380	Knee flexion contracture	5	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0003549	HP:0008366	Foot joint contracture	5	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0003549	HP:0034391	Elbow contracture	5	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0003549	HP:0006380	Knee flexion contracture	5	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0009473	Joint contracture of the hand	5	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0003549	HP:0100490	Camptodactyly of finger	5	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0003549	HP:0009473	Joint contracture of the hand	5	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0003549	HP:0034391	Elbow contracture	5	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0003549	HP:0008366	Foot joint contracture	5	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0009473	Joint contracture of the hand	5	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0003549	HP:0009473	Joint contracture of the hand	5	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003549	HP:0100490	Camptodactyly of finger	5	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent		17
HP:0003549	HP:0009473	Joint contracture of the hand	5	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0100490	Camptodactyly of finger	5	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional		38
HP:0003549	HP:0009473	Joint contracture of the hand	5	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0006466	Ankle flexion contracture	5	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040283 - Occasional		108
HP:0003549	HP:0006466	Ankle flexion contracture	5	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.		108
HP:0003549	HP:0008366	Foot joint contracture	5	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040282 - Frequent		29
HP:0003549	HP:0034391	Elbow contracture	5	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003549	HP:0006380	Knee flexion contracture	5	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0003549	HP:0001239	Wrist flexion contracture	5	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0034391	Elbow contracture	5	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0006466	Ankle flexion contracture	5	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0009473	Joint contracture of the hand	5	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0009473	Joint contracture of the hand	5	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0003549	HP:0100490	Camptodactyly of finger	5	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040282 - Frequent		59
HP:0003549	HP:0009473	Joint contracture of the hand	5	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0003549	HP:0001239	Wrist flexion contracture	5	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003549	HP:0006380	Knee flexion contracture	5	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003549	HP:0001239	Wrist flexion contracture	5	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0003549	HP:0009473	Joint contracture of the hand	5	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0003549	HP:0009473	Joint contracture of the hand	5	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0009600	Flexion contracture of thumb	5	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0100490	Camptodactyly of finger	5	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0003549	HP:0009473	Joint contracture of the hand	5	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0003089	Hamstring contractures	5	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0003549	HP:0006380	Knee flexion contracture	5	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0003549	HP:0008366	Foot joint contracture	5	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0003549	HP:0034391	Elbow contracture	5	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0100490	Camptodactyly of finger	5	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0003549	HP:0009473	Joint contracture of the hand	5	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0006380	Knee flexion contracture	5	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		38
HP:0003549	HP:0006380	Knee flexion contracture	5	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0003549	HP:0006466	Ankle flexion contracture	5	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0003549	HP:0006380	Knee flexion contracture	5	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0003549	HP:0001836	Camptodactyly of toe	5	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		747
HP:0003549	HP:0008366	Foot joint contracture	5	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0100490	Camptodactyly of finger	5	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0003549	HP:0009473	Joint contracture of the hand	5	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0100490	Camptodactyly of finger	5	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0009473	Joint contracture of the hand	5	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0006466	Ankle flexion contracture	5	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0003549	HP:0009473	Joint contracture of the hand	5	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0009473	Joint contracture of the hand	5	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0009600	Flexion contracture of thumb	5	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0034391	Elbow contracture	5	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0100490	Camptodactyly of finger	5	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		4
HP:0003549	HP:0009473	Joint contracture of the hand	5	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0100490	Camptodactyly of finger	5	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0003549	HP:0009473	Joint contracture of the hand	5	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0008366	Foot joint contracture	5	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0003549	HP:0034391	Elbow contracture	5	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0003549	HP:0006380	Knee flexion contracture	5	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0003549	HP:0008366	Foot joint contracture	5	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0003549	HP:0034391	Elbow contracture	5	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0003549	HP:0008366	Foot joint contracture	5	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0003549	HP:0100490	Camptodactyly of finger	5	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040282 - Frequent		2
HP:0003549	HP:0009473	Joint contracture of the hand	5	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0001239	Wrist flexion contracture	5	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0034391	Elbow contracture	5	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0100490	Camptodactyly of finger	5	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0003549	HP:0006380	Knee flexion contracture	5	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0008366	Foot joint contracture	5	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0009473	Joint contracture of the hand	5	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0100490	Camptodactyly of finger	5	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		20
HP:0003549	HP:0009473	Joint contracture of the hand	5	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0100490	Camptodactyly of finger	5	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0009473	Joint contracture of the hand	5	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0100490	Camptodactyly of finger	5	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		106
HP:0003549	HP:0009473	Joint contracture of the hand	5	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0008366	Foot joint contracture	5	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		158
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0100490	Camptodactyly of finger	5	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		83
HP:0003549	HP:0009473	Joint contracture of the hand	5	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0034391	Elbow contracture	5	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003549	HP:0006380	Knee flexion contracture	5	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0003549	HP:0009473	Joint contracture of the hand	5	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0003549	HP:0008366	Foot joint contracture	5	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		199
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0100490	Camptodactyly of finger	5	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		199
HP:0003549	HP:0009473	Joint contracture of the hand	5	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0003273	Hip contracture	5	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003549	HP:0008366	Foot joint contracture	5	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		55
HP:0003549	HP:0001239	Wrist flexion contracture	5	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0003549	HP:0034391	Elbow contracture	5	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003549	HP:0003273	Hip contracture	5	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0003549	HP:0006380	Knee flexion contracture	5	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0003549	HP:0006466	Ankle flexion contracture	5	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0003549	HP:0006380	Knee flexion contracture	5	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional		2
HP:0003549	HP:0001239	Wrist flexion contracture	5	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0003549	HP:0034391	Elbow contracture	5	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0003549	HP:0003273	Hip contracture	5	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0003549	HP:0006380	Knee flexion contracture	5	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0003549	HP:0006466	Ankle flexion contracture	5	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0003549	HP:0008366	Foot joint contracture	5	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0003549	HP:0034391	Elbow contracture	5	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0003549	HP:0006380	Knee flexion contracture	5	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040282 - Frequent		18
HP:0003549	HP:0006466	Ankle flexion contracture	5	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040282 - Frequent		18
HP:0003549	HP:0001239	Wrist flexion contracture	5	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional		92
HP:0003549	HP:0001239	Wrist flexion contracture	5	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0003549	HP:0034391	Elbow contracture	5	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0003549	HP:0006380	Knee flexion contracture	5	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0003549	HP:0006380	Knee flexion contracture	5	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional		92
HP:0003549	HP:0006466	Ankle flexion contracture	5	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0003549	HP:0034391	Elbow contracture	5	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0003549	HP:0034391	Elbow contracture	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0100490	Camptodactyly of finger	5	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		81
HP:0003549	HP:0009473	Joint contracture of the hand	5	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0003549	HP:0009473	Joint contracture of the hand	5	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0003273	Hip contracture	5	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040284 - Very rare		303
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0003549	HP:0100490	Camptodactyly of finger	5	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0003549	HP:0009473	Joint contracture of the hand	5	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0100490	Camptodactyly of finger	5	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		1361
HP:0003549	HP:0009473	Joint contracture of the hand	5	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0034391	Elbow contracture	5	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0006380	Knee flexion contracture	5	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0034391	Elbow contracture	5	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0008366	Foot joint contracture	5	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0003549	HP:0100490	Camptodactyly of finger	5	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0003549	HP:0009473	Joint contracture of the hand	5	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0001239	Wrist flexion contracture	5	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0034391	Elbow contracture	5	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0100490	Camptodactyly of finger	5	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0003273	Hip contracture	5	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0006380	Knee flexion contracture	5	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0009473	Joint contracture of the hand	5	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0034391	Elbow contracture	5	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0100490	Camptodactyly of finger	5	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0009473	Joint contracture of the hand	5	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0009274	Joint contracture of the 4th finger	5	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0009473	Joint contracture of the hand	5	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0034391	Elbow contracture	5	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003549	HP:0006380	Knee flexion contracture	5	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:0100490	Camptodactyly of finger	5	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent		136
HP:0003549	HP:0009473	Joint contracture of the hand	5	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0100490	Camptodactyly of finger	5	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent		62
HP:0003549	HP:0009473	Joint contracture of the hand	5	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0001031	Subcutaneous lipoma	5	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.		172
HP:0003549	HP:0100251	Multiple central nervous system lipomas	5	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.		172
HP:0003549	HP:0001836	Camptodactyly of toe	5	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.		145
HP:0003549	HP:0008366	Foot joint contracture	5	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0003549	HP:0009473	Joint contracture of the hand	5	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.		145
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0003549	HP:0100490	Camptodactyly of finger	5	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	HP:0040281 - Very frequent		145
HP:0003549	HP:0009473	Joint contracture of the hand	5	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0003549	HP:0003089	Hamstring contractures	5	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0003549	HP:0008366	Foot joint contracture	5	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0003549	HP:0001836	Camptodactyly of toe	5	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0003549	HP:0008366	Foot joint contracture	5	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0003549	HP:0009473	Joint contracture of the hand	5	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0003549	HP:0034391	Elbow contracture	5	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0003549	HP:0008366	Foot joint contracture	5	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0003549	HP:0006466	Ankle flexion contracture	5	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	.		111
HP:0003549	HP:0034391	Elbow contracture	5	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0003549	HP:0003273	Hip contracture	5	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	HP:0003577 - Congenital onset	61
HP:0003549	HP:0006380	Knee flexion contracture	5	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	HP:0003577 - Congenital onset	61
HP:0003549	HP:0006466	Ankle flexion contracture	5	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	HP:0003577 - Congenital onset	61
HP:0003549	HP:0008366	Foot joint contracture	5	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0003549	HP:0008366	Foot joint contracture	5	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0003549	HP:0008366	Foot joint contracture	5	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0003549	HP:0008366	Foot joint contracture	5	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0003549	HP:0100490	Camptodactyly of finger	5	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent		184
HP:0003549	HP:0009473	Joint contracture of the hand	5	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0001239	Wrist flexion contracture	5	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0003549	HP:0001239	Wrist flexion contracture	5	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0003549	HP:0034391	Elbow contracture	5	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0034391	Elbow contracture	5	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003549	HP:0100490	Camptodactyly of finger	5	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0003549	HP:0100490	Camptodactyly of finger	5	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0003549	HP:0006380	Knee flexion contracture	5	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0003549	HP:0006466	Ankle flexion contracture	5	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0003549	HP:0009473	Joint contracture of the hand	5	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent		493
HP:0003549	HP:0009473	Joint contracture of the hand	5	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0100490	Camptodactyly of finger	5	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0003549	HP:0009473	Joint contracture of the hand	5	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0001836	Camptodactyly of toe	5	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0003549	HP:0100490	Camptodactyly of finger	5	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0003549	HP:0008366	Foot joint contracture	5	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0009473	Joint contracture of the hand	5	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0009473	Joint contracture of the hand	5	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.		111
HP:0003549	HP:0009473	Joint contracture of the hand	5	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0003549	HP:0009473	Joint contracture of the hand	5	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0003549	HP:0100490	Camptodactyly of finger	5	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0003549	HP:0009473	Joint contracture of the hand	5	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0003549	HP:0003273	Hip contracture	5	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003549	HP:0009473	Joint contracture of the hand	5	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0003549	HP:0100490	Camptodactyly of finger	5	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent		52
HP:0003549	HP:0009473	Joint contracture of the hand	5	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0003549	HP:0005745	Congenital foot contractures	5	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0003549	HP:0006380	Knee flexion contracture	5	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		128
HP:0003549	HP:0009473	Joint contracture of the hand	5	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0100490	Camptodactyly of finger	5	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0003549	HP:0009473	Joint contracture of the hand	5	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0003549	HP:0009473	Joint contracture of the hand	5	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3			68
HP:0003549	HP:0100490	Camptodactyly of finger	5	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3	HP:0040282 - Frequent		68
HP:0003549	HP:0009473	Joint contracture of the hand	5	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3			68
HP:0003549	HP:0008366	Foot joint contracture	5	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0003549	HP:0034391	Elbow contracture	5	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0003549	HP:0006380	Knee flexion contracture	5	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0003549	HP:0006380	Knee flexion contracture	5	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003549	HP:0006380	Knee flexion contracture	5	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003549	HP:0001836	Camptodactyly of toe	5	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0008366	Foot joint contracture	5	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0009473	Joint contracture of the hand	5	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0006380	Knee flexion contracture	5	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040282 - Frequent		270
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0003549	HP:0100490	Camptodactyly of finger	5	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		3
HP:0003549	HP:0009473	Joint contracture of the hand	5	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0003549	HP:0006380	Knee flexion contracture	5	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		34
HP:0003549	HP:0034391	Elbow contracture	5	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0003273	Hip contracture	5	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0006380	Knee flexion contracture	5	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0003273	Hip contracture	5	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0003549	HP:0006380	Knee flexion contracture	5	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0003549	HP:0034391	Elbow contracture	5	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0003549	HP:0008366	Foot joint contracture	5	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0100490	Camptodactyly of finger	5	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0003549	HP:0009473	Joint contracture of the hand	5	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0003549	HP:0009473	Joint contracture of the hand	5	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040282 - Frequent
HP:0003549	HP:0009473	Joint contracture of the hand	5	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0100490	Camptodactyly of finger	5	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0009473	Joint contracture of the hand	5	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0034391	Elbow contracture	5	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0003273	Hip contracture	5	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0006380	Knee flexion contracture	5	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0006466	Ankle flexion contracture	5	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0009473	Joint contracture of the hand	5	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0100490	Camptodactyly of finger	5	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		10
HP:0003549	HP:0009473	Joint contracture of the hand	5	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:0100490	Camptodactyly of finger	5	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare		12
HP:0003549	HP:0008366	Foot joint contracture	5	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:0009473	Joint contracture of the hand	5	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:0008366	Foot joint contracture	5	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional		2
HP:0003549	HP:0009473	Joint contracture of the hand	5	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional		2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5			25
HP:0003549	HP:0100490	Camptodactyly of finger	5	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5	HP:0040282 - Frequent		25
HP:0003549	HP:0009473	Joint contracture of the hand	5	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5			25
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V			25
HP:0003549	HP:0100490	Camptodactyly of finger	5	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.		25
HP:0003549	HP:0009473	Joint contracture of the hand	5	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.		25
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0100490	Camptodactyly of finger	5	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0009473	Joint contracture of the hand	5	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0008366	Foot joint contracture	5	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0003549	HP:0034391	Elbow contracture	5	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003549	HP:0003273	Hip contracture	5	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003549	HP:0006380	Knee flexion contracture	5	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0003549	HP:0100490	Camptodactyly of finger	5	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0003549	HP:0009473	Joint contracture of the hand	5	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0003549	HP:0001239	Wrist flexion contracture	5	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0003549	HP:0003044	Shoulder flexion contracture	5	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0003549	HP:0003273	Hip contracture	5	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0003549	HP:0008366	Foot joint contracture	5	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003549	HP:0001239	Wrist flexion contracture	5	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0003549	HP:0003044	Shoulder flexion contracture	5	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0003549	HP:0003273	Hip contracture	5	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0003549	HP:0008366	Foot joint contracture	5	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003549	HP:0009473	Joint contracture of the hand	5	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0100490	Camptodactyly of finger	5	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent		86
HP:0003549	HP:0009473	Joint contracture of the hand	5	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0100490	Camptodactyly of finger	5	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent		86
HP:0003549	HP:0009473	Joint contracture of the hand	5	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0003549	HP:0100490	Camptodactyly of finger	5	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent		115
HP:0003549	HP:0009473	Joint contracture of the hand	5	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0100490	Camptodactyly of finger	5	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0009473	Joint contracture of the hand	5	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0003549	HP:0100490	Camptodactyly of finger	5	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0003549	HP:0009473	Joint contracture of the hand	5	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0100490	Camptodactyly of finger	5	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0003549	HP:0009473	Joint contracture of the hand	5	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0009473	Joint contracture of the hand	5	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0003549	HP:0009473	Joint contracture of the hand	5	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0001836	Camptodactyly of toe	5	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0008366	Foot joint contracture	5	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0010327	Flexion contracture of the 2nd toe	5	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0008366	Foot joint contracture	5	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional		4
HP:0003549	HP:0009473	Joint contracture of the hand	5	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional		4
HP:0003549	HP:0034391	Elbow contracture	5	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0003549	HP:0003273	Hip contracture	5	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0003549	HP:0006380	Knee flexion contracture	5	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0003549	HP:0006466	Ankle flexion contracture	5	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0003549	HP:0009473	Joint contracture of the hand	5	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0003549	HP:0034391	Elbow contracture	5	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0003549	HP:0003044	Shoulder flexion contracture	5	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0003549	HP:0006380	Knee flexion contracture	5	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0003549	HP:0008366	Foot joint contracture	5	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0003549	HP:0001836	Camptodactyly of toe	5	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		222
HP:0003549	HP:0008366	Foot joint contracture	5	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0003549	HP:0100490	Camptodactyly of finger	5	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0003549	HP:0009473	Joint contracture of the hand	5	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0003549	HP:0003273	Hip contracture	5	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0003549	HP:0003273	Hip contracture	5	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent		141
HP:0003549	HP:0006380	Knee flexion contracture	5	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent		141
HP:0003549	HP:0006380	Knee flexion contracture	5	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0003549	HP:0100490	Camptodactyly of finger	5	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0003549	HP:0009473	Joint contracture of the hand	5	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0100490	Camptodactyly of finger	5	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0008366	Foot joint contracture	5	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional		4
HP:0003549	HP:0009473	Joint contracture of the hand	5	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0100490	Camptodactyly of finger	5	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009274	Joint contracture of the 4th finger	5	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009473	Joint contracture of the hand	5	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0003549	HP:0100490	Camptodactyly of finger	5	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional		81
HP:0003549	HP:0009473	Joint contracture of the hand	5	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0003549	HP:0008366	Foot joint contracture	5	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0003549	HP:0009473	Joint contracture of the hand	5	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0003549	HP:0034391	Elbow contracture	5	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0003549	HP:0009473	Joint contracture of the hand	5	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0003549	HP:0006466	Ankle flexion contracture	5	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040281 - Very frequent		3
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0003549	HP:0009473	Joint contracture of the hand	5	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0003549	HP:0009473	Joint contracture of the hand	5	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:0009473	Joint contracture of the hand	5	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0003549	HP:0009473	Joint contracture of the hand	5	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0003549	HP:0009473	Joint contracture of the hand	5	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0003549	HP:0006380	Knee flexion contracture	5	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040283 - Occasional		3
HP:0003549	HP:0034391	Elbow contracture	5	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0003549	HP:0003044	Shoulder flexion contracture	5	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0003549	HP:0008366	Foot joint contracture	5	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0003549	HP:0009473	Joint contracture of the hand	5	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0003549	HP:0009600	Flexion contracture of thumb	5	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0003549	HP:0100490	Camptodactyly of finger	5	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040282 - Frequent		134
HP:0003549	HP:0009473	Joint contracture of the hand	5	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0009473	Joint contracture of the hand	5	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0034391	Elbow contracture	5	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0100490	Camptodactyly of finger	5	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.		167
HP:0003549	HP:0009473	Joint contracture of the hand	5	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0034391	Elbow contracture	5	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0003549	HP:0008366	Foot joint contracture	5	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0003549	HP:0009473	Joint contracture of the hand	5	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0003549	HP:0006380	Knee flexion contracture	5	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0100490	Camptodactyly of finger	5	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		13
HP:0003549	HP:0009473	Joint contracture of the hand	5	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0100490	Camptodactyly of finger	5	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0009473	Joint contracture of the hand	5	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0009537	Flexion contracture of the 2nd finger	5	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0034391	Elbow contracture	5	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0003549	HP:0003273	Hip contracture	5	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0003549	HP:0006380	Knee flexion contracture	5	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0003549	HP:0006466	Ankle flexion contracture	5	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003549	HP:0034391	Elbow contracture	5	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003549	HP:0100490	Camptodactyly of finger	5	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent		144
HP:0003549	HP:0006380	Knee flexion contracture	5	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0003549	HP:0009473	Joint contracture of the hand	5	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0034391	Elbow contracture	5	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0100490	Camptodactyly of finger	5	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0006380	Knee flexion contracture	5	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0003549	HP:0008366	Foot joint contracture	5	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0009473	Joint contracture of the hand	5	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0003549	HP:0100490	Camptodactyly of finger	5	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent		106
HP:0003549	HP:0009473	Joint contracture of the hand	5	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0003549	HP:0006380	Knee flexion contracture	5	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0003549	HP:0034391	Elbow contracture	5	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0008366	Foot joint contracture	5	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0034391	Elbow contracture	5	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0008366	Foot joint contracture	5	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0003549	HP:0034391	Elbow contracture	5	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0003549	HP:0008366	Foot joint contracture	5	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0003549	HP:0034391	Elbow contracture	5	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive			645
HP:0003549	HP:0034391	Elbow contracture	5	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0100490	Camptodactyly of finger	5	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0003549	HP:0009473	Joint contracture of the hand	5	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0009019	Progressive loss of facial adipose tissue	5	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.		11
HP:0003549	HP:0009056	Loss of subcutaneous adipose tissue from upper limbs	5	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.		11
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0034391	Elbow contracture	5	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0006380	Knee flexion contracture	5	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0003549	HP:0008366	Foot joint contracture	5	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0009473	Joint contracture of the hand	5	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0009473	Joint contracture of the hand	5	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003549	HP:0100490	Camptodactyly of finger	5	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040282 - Frequent		63
HP:0003549	HP:0009473	Joint contracture of the hand	5	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003549	HP:0034391	Elbow contracture	5	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0003273	Hip contracture	5	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0006380	Knee flexion contracture	5	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0006466	Ankle flexion contracture	5	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0009473	Joint contracture of the hand	5	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0003549	HP:0001239	Wrist flexion contracture	5	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0003549	HP:0034391	Elbow contracture	5	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003549	HP:0100490	Camptodactyly of finger	5	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0003549	HP:0009473	Joint contracture of the hand	5	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent		11
HP:0003549	HP:0034391	Elbow contracture	5	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0003549	HP:0003273	Hip contracture	5	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0100490	Camptodactyly of finger	5	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0009473	Joint contracture of the hand	5	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0100490	Camptodactyly of finger	5	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0003549	HP:0009473	Joint contracture of the hand	5	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0001239	Wrist flexion contracture	5	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0003549	HP:0100490	Camptodactyly of finger	5	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		228
HP:0003549	HP:0009473	Joint contracture of the hand	5	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0003549	HP:0009473	Joint contracture of the hand	5	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0003549	HP:0005612	Arthrogryposis-like hand anomaly	5	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0100490	Camptodactyly of finger	5	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0009319	Joint contracture of the 3rd finger	5	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0009473	Joint contracture of the hand	5	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0001239	Wrist flexion contracture	5	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0003549	HP:0009473	Joint contracture of the hand	5	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0003549	HP:0009473	Joint contracture of the hand	5	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0009600	Flexion contracture of thumb	5	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0003549	HP:0100490	Camptodactyly of finger	5	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0003549	HP:0009473	Joint contracture of the hand	5	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0003549	HP:0006380	Knee flexion contracture	5	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0003549	HP:0001031	Subcutaneous lipoma	5	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.		462
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0100490	Camptodactyly of finger	5	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0003549	HP:0009473	Joint contracture of the hand	5	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0100490	Camptodactyly of finger	5	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0009473	Joint contracture of the hand	5	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0008366	Foot joint contracture	5	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003549	HP:0001239	Wrist flexion contracture	5	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003549	HP:0001836	Camptodactyly of toe	5	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003549	HP:0003273	Hip contracture	5	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003549	HP:0006466	Ankle flexion contracture	5	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003549	HP:0008366	Foot joint contracture	5	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0009473	Joint contracture of the hand	5	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0009473	Joint contracture of the hand	5	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0100490	Camptodactyly of finger	5	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0009473	Joint contracture of the hand	5	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent		8
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0100490	Camptodactyly of finger	5	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0003549	HP:0100490	Camptodactyly of finger	5	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0003549	HP:0009473	Joint contracture of the hand	5	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0009473	Joint contracture of the hand	5	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0008366	Foot joint contracture	5	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B	HP:0040281 - Very frequent		66
HP:0003549	HP:0009473	Joint contracture of the hand	5	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B			66
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0003549	HP:0100490	Camptodactyly of finger	5	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		66
HP:0003549	HP:0009473	Joint contracture of the hand	5	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0003549	HP:0001239	Wrist flexion contracture	5	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0034391	Elbow contracture	5	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0003044	Shoulder flexion contracture	5	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0003549	HP:0003273	Hip contracture	5	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0003549	HP:0006380	Knee flexion contracture	5	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0003549	HP:0008366	Foot joint contracture	5	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0009473	Joint contracture of the hand	5	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0100490	Camptodactyly of finger	5	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0003549	HP:0009473	Joint contracture of the hand	5	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0034391	Elbow contracture	5	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0003549	HP:0003273	Hip contracture	5	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	HP:0040283 - Occasional		166
HP:0003549	HP:0006380	Knee flexion contracture	5	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.		166
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0003549	HP:0100490	Camptodactyly of finger	5	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		166
HP:0003549	HP:0009473	Joint contracture of the hand	5	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0003549	HP:0100490	Camptodactyly of finger	5	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		166
HP:0003549	HP:0009473	Joint contracture of the hand	5	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0003549	HP:0034391	Elbow contracture	5	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003549	HP:0003273	Hip contracture	5	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003549	HP:0006380	Knee flexion contracture	5	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0001239	Wrist flexion contracture	5	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0034391	Elbow contracture	5	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0001836	Camptodactyly of toe	5	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0100490	Camptodactyly of finger	5	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0003044	Shoulder flexion contracture	5	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0003273	Hip contracture	5	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0006380	Knee flexion contracture	5	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0008366	Foot joint contracture	5	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0009473	Joint contracture of the hand	5	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0034391	Elbow contracture	5	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0003549	HP:0003273	Hip contracture	5	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0003549	HP:0006380	Knee flexion contracture	5	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0003549	HP:0006466	Ankle flexion contracture	5	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0003549	HP:0009473	Joint contracture of the hand	5	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0003549	HP:0006380	Knee flexion contracture	5	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0100490	Camptodactyly of finger	5	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0003549	HP:0009473	Joint contracture of the hand	5	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0008366	Foot joint contracture	5	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0003549	HP:0100490	Camptodactyly of finger	5	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		23
HP:0003549	HP:0009473	Joint contracture of the hand	5	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0003549	HP:0009473	Joint contracture of the hand	5	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0003549	HP:0034391	Elbow contracture	5	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0003549	HP:0003273	Hip contracture	5	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0003549	HP:0006380	Knee flexion contracture	5	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0003549	HP:0100490	Camptodactyly of finger	5	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		48
HP:0003549	HP:0009473	Joint contracture of the hand	5	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0003549	HP:0100490	Camptodactyly of finger	5	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		48
HP:0003549	HP:0009473	Joint contracture of the hand	5	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0003549	HP:0034391	Elbow contracture	5	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0003549	HP:0003273	Hip contracture	5	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0003549	HP:0006380	Knee flexion contracture	5	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0003549	HP:0006466	Ankle flexion contracture	5	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent		745
HP:0003549	HP:0009473	Joint contracture of the hand	5	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0003549	HP:0008366	Foot joint contracture	5	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003549	HP:0034391	Elbow contracture	5	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0100490	Camptodactyly of finger	5	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional		217
HP:0003549	HP:0009473	Joint contracture of the hand	5	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0100490	Camptodactyly of finger	5	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040282 - Frequent		187
HP:0003549	HP:0100490	Camptodactyly of finger	5	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0008366	Foot joint contracture	5	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0009473	Joint contracture of the hand	5	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0003549	HP:0009473	Joint contracture of the hand	5	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0003549	HP:0100490	Camptodactyly of finger	5	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent		22
HP:0003549	HP:0009473	Joint contracture of the hand	5	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0100490	Camptodactyly of finger	5	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0003273	Hip contracture	5	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0003549	HP:0006466	Ankle flexion contracture	5	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0003549	HP:0009473	Joint contracture of the hand	5	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0100490	Camptodactyly of finger	5	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		544
HP:0003549	HP:0009473	Joint contracture of the hand	5	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0008366	Foot joint contracture	5	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0003549	HP:0006380	Knee flexion contracture	5	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent		15
HP:0003549	HP:0006466	Ankle flexion contracture	5	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent		15
HP:0003549	HP:0008366	Foot joint contracture	5	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0100490	Camptodactyly of finger	5	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0009473	Joint contracture of the hand	5	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:0100490	Camptodactyly of finger	5	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0009473	Joint contracture of the hand	5	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0100490	Camptodactyly of finger	5	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0003549	HP:0009473	Joint contracture of the hand	5	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0100490	Camptodactyly of finger	5	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0009473	Joint contracture of the hand	5	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:0100490	Camptodactyly of finger	5	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0003549	HP:0009473	Joint contracture of the hand	5	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0003549	HP:0003089	Hamstring contractures	5	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0003549	HP:0006366	Adductor longus contractures	5	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0003549	HP:0008366	Foot joint contracture	5	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0003549	HP:0100490	Camptodactyly of finger	5	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		53
HP:0003549	HP:0009473	Joint contracture of the hand	5	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0003549	HP:0009473	Joint contracture of the hand	5	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0003549	HP:0100490	Camptodactyly of finger	5	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		21
HP:0003549	HP:0009473	Joint contracture of the hand	5	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0003549	HP:0100490	Camptodactyly of finger	5	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		39
HP:0003549	HP:0009473	Joint contracture of the hand	5	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0009473	Joint contracture of the hand	5	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0034391	Elbow contracture	5	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0003549	HP:0003273	Hip contracture	5	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0003549	HP:0100490	Camptodactyly of finger	5	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040282 - Frequent		59
HP:0003549	HP:0009473	Joint contracture of the hand	5	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0003549	HP:0100490	Camptodactyly of finger	5	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional		59
HP:0003549	HP:0009473	Joint contracture of the hand	5	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0003549	HP:0100490	Camptodactyly of finger	5	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0003549	HP:0009473	Joint contracture of the hand	5	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0009473	Joint contracture of the hand	5	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:0100490	Camptodactyly of finger	5	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		169
HP:0003549	HP:0009473	Joint contracture of the hand	5	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:0009473	Joint contracture of the hand	5	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:0100490	Camptodactyly of finger	5	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		98
HP:0003549	HP:0009473	Joint contracture of the hand	5	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:0001836	Camptodactyly of toe	5	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent		29
HP:0003549	HP:0008366	Foot joint contracture	5	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0003549	HP:0009473	Joint contracture of the hand	5	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0003549	HP:0006380	Knee flexion contracture	5	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0003549	HP:0001239	Wrist flexion contracture	5	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0003549	HP:0006380	Knee flexion contracture	5	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0003549	HP:0003273	Hip contracture	5	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0003549	HP:0006380	Knee flexion contracture	5	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0003549	HP:0006466	Ankle flexion contracture	5	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0001836	Camptodactyly of toe	5	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0003549	HP:0100490	Camptodactyly of finger	5	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0003549	HP:0006380	Knee flexion contracture	5	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0003549	HP:0008366	Foot joint contracture	5	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0009473	Joint contracture of the hand	5	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0100490	Camptodactyly of finger	5	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0009473	Joint contracture of the hand	5	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0100490	Camptodactyly of finger	5	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0009473	Joint contracture of the hand	5	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0003549	HP:0100490	Camptodactyly of finger	5	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome	HP:0040281 - Very frequent		77
HP:0003549	HP:0009473	Joint contracture of the hand	5	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0100490	Camptodactyly of finger	5	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040282 - Frequent		77
HP:0003549	HP:0009473	Joint contracture of the hand	5	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0009473	Joint contracture of the hand	5	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0003549	HP:0034391	Elbow contracture	5	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0003549	HP:0003273	Hip contracture	5	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0003549	HP:0006380	Knee flexion contracture	5	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0100490	Camptodactyly of finger	5	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0009473	Joint contracture of the hand	5	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0003549	HP:0008366	Foot joint contracture	5	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0003549	HP:0034391	Elbow contracture	5	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:0003273	Hip contracture	5	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:0006380	Knee flexion contracture	5	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:0034391	Elbow contracture	5	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0003549	HP:0001031	Subcutaneous lipoma	5	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0003549	HP:0006380	Knee flexion contracture	5	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0003549	HP:0034391	Elbow contracture	5	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly			8
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly	.		8
HP:0003549	HP:0009473	Joint contracture of the hand	5	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly			8
HP:0003549	HP:0008366	Foot joint contracture	5	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0003549	HP:0009473	Joint contracture of the hand	5	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.		186
HP:0003549	HP:0034391	Elbow contracture	5	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003549	HP:0034391	Elbow contracture	5	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0003549	HP:0006380	Knee flexion contracture	5	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	HP:0003577 - Congenital onset	45
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0034391	Elbow contracture	5	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0100490	Camptodactyly of finger	5	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0009319	Joint contracture of the 3rd finger	5	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0009473	Joint contracture of the hand	5	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0009537	Flexion contracture of the 2nd finger	5	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0009473	Joint contracture of the hand	5	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional		79
HP:0003549	HP:0003273	Hip contracture	5	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0003549	HP:0006466	Ankle flexion contracture	5	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0100490	Camptodactyly of finger	5	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0003549	HP:0009473	Joint contracture of the hand	5	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0100490	Camptodactyly of finger	5	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0009473	Joint contracture of the hand	5	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0008366	Foot joint contracture	5	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0003549	HP:0009473	Joint contracture of the hand	5	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0003549	HP:0034391	Elbow contracture	5	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:0100490	Camptodactyly of finger	5	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0003549	HP:0009473	Joint contracture of the hand	5	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:0001836	Camptodactyly of toe	5	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0008366	Foot joint contracture	5	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0010339	Flexion contracture of the 4th toe	5	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0009473	Joint contracture of the hand	5	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0003549	HP:0100490	Camptodactyly of finger	5	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0003549	HP:0009473	Joint contracture of the hand	5	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0001239	Wrist flexion contracture	5	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.		6
HP:0003549	HP:0100490	Camptodactyly of finger	5	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0009473	Joint contracture of the hand	5	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0001836	Camptodactyly of toe	5	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0100490	Camptodactyly of finger	5	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0008366	Foot joint contracture	5	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0009473	Joint contracture of the hand	5	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0009473	Joint contracture of the hand	5	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0006380	Knee flexion contracture	5	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional		27
HP:0003549	HP:0006466	Ankle flexion contracture	5	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional		27
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0034391	Elbow contracture	5	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0100490	Camptodactyly of finger	5	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0003549	HP:0008366	Foot joint contracture	5	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0009473	Joint contracture of the hand	5	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0034391	Elbow contracture	5	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0003549	HP:0006380	Knee flexion contracture	5	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0003549	HP:0034391	Elbow contracture	5	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003549	HP:0006380	Knee flexion contracture	5	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0003549	HP:0001031	Subcutaneous lipoma	5	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0003549	HP:0001031	Subcutaneous lipoma	5	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040284 - Very rare		948
HP:0003549	HP:0001031	Subcutaneous lipoma	5	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent		948
HP:0003549	HP:0003273	Hip contracture	5	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.		58
HP:0003549	HP:0006380	Knee flexion contracture	5	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.		58
HP:0003549	HP:0008366	Foot joint contracture	5	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0003549	HP:0009473	Joint contracture of the hand	5	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0003549	HP:0034391	Elbow contracture	5	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003549	HP:0008366	Foot joint contracture	5	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0009473	Joint contracture of the hand	5	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0009473	Joint contracture of the hand	5	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0100490	Camptodactyly of finger	5	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0009473	Joint contracture of the hand	5	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0100490	Camptodactyly of finger	5	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0003549	HP:0009473	Joint contracture of the hand	5	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0034391	Elbow contracture	5	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0003549	HP:0005612	Arthrogryposis-like hand anomaly	5	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0003549	HP:0008366	Foot joint contracture	5	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0003549	HP:0100490	Camptodactyly of finger	5	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0003549	HP:0009473	Joint contracture of the hand	5	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0100490	Camptodactyly of finger	5	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		3
HP:0003549	HP:0009473	Joint contracture of the hand	5	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0034391	Elbow contracture	5	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003549	HP:0003273	Hip contracture	5	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003549	HP:0034391	Elbow contracture	5	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0003549	HP:0034391	Elbow contracture	5	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0003549	HP:0003044	Shoulder flexion contracture	5	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0003549	HP:0003273	Hip contracture	5	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0003549	HP:0006380	Knee flexion contracture	5	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0003549	HP:0003273	Hip contracture	5	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.		15
HP:0003549	HP:0003273	Hip contracture	5	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0100490	Camptodactyly of finger	5	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0003549	HP:0009473	Joint contracture of the hand	5	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0009473	Joint contracture of the hand	5	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	.		120
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0100490	Camptodactyly of finger	5	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0009473	Joint contracture of the hand	5	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0009537	Flexion contracture of the 2nd finger	5	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0006380	Knee flexion contracture	5	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent		10
HP:0003549	HP:0006466	Ankle flexion contracture	5	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent		10
HP:0003549	HP:0012033	Sacral lipoma	5	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent		10
HP:0003549	HP:0034391	Elbow contracture	5	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0003549	HP:0001239	Wrist flexion contracture	5	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0003549	HP:0009473	Joint contracture of the hand	5	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003549	HP:0009473	Joint contracture of the hand	5	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003549	HP:0009600	Flexion contracture of thumb	5	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0100490	Camptodactyly of finger	5	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0003549	HP:0006380	Knee flexion contracture	5	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0003549	HP:0006466	Ankle flexion contracture	5	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0003549	HP:0009473	Joint contracture of the hand	5	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0003273	Hip contracture	5	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0003549	HP:0006466	Ankle flexion contracture	5	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0034391	Elbow contracture	5	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0001836	Camptodactyly of toe	5	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0003549	HP:0100490	Camptodactyly of finger	5	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0006380	Knee flexion contracture	5	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0003549	HP:0008366	Foot joint contracture	5	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0009473	Joint contracture of the hand	5	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0003549	HP:0001239	Wrist flexion contracture	5	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0003549	HP:0034391	Elbow contracture	5	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003549	HP:0003273	Hip contracture	5	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0003549	HP:0006380	Knee flexion contracture	5	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0003549	HP:0006466	Ankle flexion contracture	5	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0003549	HP:0006380	Knee flexion contracture	5	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		304
HP:0003549	HP:0006380	Knee flexion contracture	5	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		16
HP:0003549	HP:0006380	Knee flexion contracture	5	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		237
HP:0003549	HP:0006380	Knee flexion contracture	5	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		129
HP:0003549	HP:0034391	Elbow contracture	5	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0003549	HP:0003273	Hip contracture	5	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0003549	HP:0006380	Knee flexion contracture	5	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0003549	HP:0006466	Ankle flexion contracture	5	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0003549	HP:0009473	Joint contracture of the hand	5	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0003549	HP:0034391	Elbow contracture	5	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0003549	HP:0003089	Hamstring contractures	5	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		144
HP:0003549	HP:0003273	Hip contracture	5	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		144
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0100490	Camptodactyly of finger	5	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0003273	Hip contracture	5	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0003549	HP:0006466	Ankle flexion contracture	5	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0003549	HP:0009473	Joint contracture of the hand	5	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0008366	Foot joint contracture	5	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3			132
HP:0003549	HP:0006466	Ankle flexion contracture	5	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0003549	HP:0008366	Foot joint contracture	5	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0100490	Camptodactyly of finger	5	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent		134
HP:0003549	HP:0009473	Joint contracture of the hand	5	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0003549	HP:0100490	Camptodactyly of finger	5	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent		67
HP:0003549	HP:0009473	Joint contracture of the hand	5	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0003549	HP:0034391	Elbow contracture	5	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003549	HP:0006380	Knee flexion contracture	5	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0009274	Joint contracture of the 4th finger	5	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0009473	Joint contracture of the hand	5	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0003549	HP:0100490	Camptodactyly of finger	5	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0003549	HP:0009473	Joint contracture of the hand	5	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0003549	HP:0009473	Joint contracture of the hand	5	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0100490	Camptodactyly of finger	5	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		150
HP:0003549	HP:0009473	Joint contracture of the hand	5	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0003273	Hip contracture	5	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0003549	HP:0008366	Foot joint contracture	5	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0100490	Camptodactyly of finger	5	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0003549	HP:0009473	Joint contracture of the hand	5	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0006380	Knee flexion contracture	5	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0003549	HP:0006466	Ankle flexion contracture	5	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0003549	HP:0008366	Foot joint contracture	5	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0003549	HP:0034391	Elbow contracture	5	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0003549	HP:0006380	Knee flexion contracture	5	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0003549	HP:0034391	Elbow contracture	5	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003549	HP:0100490	Camptodactyly of finger	5	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent		166
HP:0003549	HP:0003273	Hip contracture	5	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0003549	HP:0009473	Joint contracture of the hand	5	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0034391	Elbow contracture	5	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0100490	Camptodactyly of finger	5	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0009319	Joint contracture of the 3rd finger	5	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0009473	Joint contracture of the hand	5	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0034391	Elbow contracture	5	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0100490	Camptodactyly of finger	5	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0008366	Foot joint contracture	5	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0009473	Joint contracture of the hand	5	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003549	HP:0100490	Camptodactyly of finger	5	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare		27
HP:0003549	HP:0009473	Joint contracture of the hand	5	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0003549	HP:0100490	Camptodactyly of finger	5	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0003549	HP:0009473	Joint contracture of the hand	5	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0100490	Camptodactyly of finger	5	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.		24
HP:0003549	HP:0009473	Joint contracture of the hand	5	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.		24
HP:0003549	HP:0008366	Foot joint contracture	5	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0003549	HP:0034391	Elbow contracture	5	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0003549	HP:0006380	Knee flexion contracture	5	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0003549	HP:0034391	Elbow contracture	5	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0003549	HP:0003273	Hip contracture	5	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.		4
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0100490	Camptodactyly of finger	5	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional		260
HP:0003549	HP:0009473	Joint contracture of the hand	5	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0003549	HP:0100490	Camptodactyly of finger	5	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040282 - Frequent		6
HP:0003549	HP:0009473	Joint contracture of the hand	5	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0100490	Camptodactyly of finger	5	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0009319	Joint contracture of the 3rd finger	5	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0009473	Joint contracture of the hand	5	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0100490	Camptodactyly of finger	5	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0009473	Joint contracture of the hand	5	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0100490	Camptodactyly of finger	5	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0100490	Camptodactyly of finger	5	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0009473	Joint contracture of the hand	5	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0009473	Joint contracture of the hand	5	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0006380	Knee flexion contracture	5	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0003549	HP:0034391	Elbow contracture	5	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:0009473	Joint contracture of the hand	5	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:0003273	Hip contracture	5	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0003549	HP:0003273	Hip contracture	5	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0003549	HP:0100490	Camptodactyly of finger	5	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0003549	HP:0009473	Joint contracture of the hand	5	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0003549	HP:0006466	Ankle flexion contracture	5	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	HP:0040283 - Occasional		287
HP:0003549	HP:0034391	Elbow contracture	5	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0003549	HP:0006466	Ankle flexion contracture	5	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0003549	HP:0034391	Elbow contracture	5	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0003549	HP:0006380	Knee flexion contracture	5	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.		80
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0100490	Camptodactyly of finger	5	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0009473	Joint contracture of the hand	5	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0034391	Elbow contracture	5	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0006380	Knee flexion contracture	5	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0006466	Ankle flexion contracture	5	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0009473	Joint contracture of the hand	5	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0009473	Joint contracture of the hand	5	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0003549	HP:0034391	Elbow contracture	5	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0003549	HP:0008366	Foot joint contracture	5	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0003549	HP:0009473	Joint contracture of the hand	5	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0003549	HP:0034391	Elbow contracture	5	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0003549	HP:0008366	Foot joint contracture	5	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0003549	HP:0034391	Elbow contracture	5	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0003549	HP:0006380	Knee flexion contracture	5	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0003549	HP:0006466	Ankle flexion contracture	5	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0100490	Camptodactyly of finger	5	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0008366	Foot joint contracture	5	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0009473	Joint contracture of the hand	5	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0003549	HP:0100490	Camptodactyly of finger	5	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0003549	HP:0009473	Joint contracture of the hand	5	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0003549	HP:0001239	Wrist flexion contracture	5	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0003549	HP:0009473	Joint contracture of the hand	5	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0003549	HP:0034391	Elbow contracture	5	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0034391	Elbow contracture	5	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0003549	HP:0100490	Camptodactyly of finger	5	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional		100
HP:0003549	HP:0009473	Joint contracture of the hand	5	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0003549	HP:0100490	Camptodactyly of finger	5	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent		31
HP:0003549	HP:0009473	Joint contracture of the hand	5	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0003549	HP:0003273	Hip contracture	5	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0003549	HP:0006380	Knee flexion contracture	5	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0003549	HP:0034391	Elbow contracture	5	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0003549	HP:0100490	Camptodactyly of finger	5	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional		6
HP:0003549	HP:0009473	Joint contracture of the hand	5	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0100490	Camptodactyly of finger	5	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0008366	Foot joint contracture	5	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0009473	Joint contracture of the hand	5	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0100490	Camptodactyly of finger	5	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		239
HP:0003549	HP:0009473	Joint contracture of the hand	5	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0100490	Camptodactyly of finger	5	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		253
HP:0003549	HP:0009473	Joint contracture of the hand	5	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0009473	Joint contracture of the hand	5	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	.		253
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0100490	Camptodactyly of finger	5	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0009274	Joint contracture of the 4th finger	5	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0009473	Joint contracture of the hand	5	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0003549	HP:0009473	Joint contracture of the hand	5	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0003549	HP:0034391	Elbow contracture	5	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0003549	HP:0034391	Elbow contracture	5	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0003549	HP:0008366	Foot joint contracture	5	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0003549	HP:0100490	Camptodactyly of finger	5	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0003549	HP:0009473	Joint contracture of the hand	5	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0100490	Camptodactyly of finger	5	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0003549	HP:0009473	Joint contracture of the hand	5	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0003549	HP:0100490	Camptodactyly of finger	5	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		37
HP:0003549	HP:0009473	Joint contracture of the hand	5	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0003549	HP:0003044	Shoulder flexion contracture	5	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent		37
HP:0003549	HP:0003273	Hip contracture	5	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent		37
HP:0003549	HP:0003044	Shoulder flexion contracture	5	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0003549	HP:0003273	Hip contracture	5	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0003549	HP:0100490	Camptodactyly of finger	5	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		43
HP:0003549	HP:0009473	Joint contracture of the hand	5	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0003549	HP:0034391	Elbow contracture	5	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0100490	Camptodactyly of finger	5	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0006466	Ankle flexion contracture	5	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y	.		10
HP:0003549	HP:0009473	Joint contracture of the hand	5	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0009473	Joint contracture of the hand	5	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0009473	Joint contracture of the hand	5	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.		140
HP:0003549	HP:0034391	Elbow contracture	5	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0003549	HP:0003273	Hip contracture	5	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0003549	HP:0006380	Knee flexion contracture	5	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0003549	HP:0009473	Joint contracture of the hand	5	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0003549	HP:0034391	Elbow contracture	5	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0003549	HP:0003273	Hip contracture	5	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0003549	HP:0006380	Knee flexion contracture	5	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0003549	HP:0006466	Ankle flexion contracture	5	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0003549	HP:0009473	Joint contracture of the hand	5	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0003549	HP:0100490	Camptodactyly of finger	5	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		54
HP:0003549	HP:0009473	Joint contracture of the hand	5	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0003549	HP:0034391	Elbow contracture	5	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0003549	HP:0003273	Hip contracture	5	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0003549	HP:0006380	Knee flexion contracture	5	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0003549	HP:0006466	Ankle flexion contracture	5	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0003549	HP:0009473	Joint contracture of the hand	5	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0009473	Joint contracture of the hand	5	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0006380	Knee flexion contracture	5	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.		3
HP:0003549	HP:0008366	Foot joint contracture	5	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0003549	HP:0100490	Camptodactyly of finger	5	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent		171
HP:0003549	HP:0009473	Joint contracture of the hand	5	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003549	HP:0100490	Camptodactyly of finger	5	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040283 - Occasional		214
HP:0003549	HP:0009473	Joint contracture of the hand	5	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003549	HP:0034391	Elbow contracture	5	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0003549	HP:0003273	Hip contracture	5	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0003549	HP:0006380	Knee flexion contracture	5	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0003549	HP:0034391	Elbow contracture	5	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003549	HP:0003273	Hip contracture	5	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0003549	HP:0008366	Foot joint contracture	5	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0100490	Camptodactyly of finger	5	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		106
HP:0003549	HP:0009473	Joint contracture of the hand	5	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0003549	HP:0001239	Wrist flexion contracture	5	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional		64
HP:0003549	HP:0100490	Camptodactyly of finger	5	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional		64
HP:0003549	HP:0009473	Joint contracture of the hand	5	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional		64
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0100490	Camptodactyly of finger	5	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent		7
HP:0003549	HP:0009473	Joint contracture of the hand	5	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0003549	HP:0034391	Elbow contracture	5	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003549	HP:0003273	Hip contracture	5	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0003549	HP:0006380	Knee flexion contracture	5	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0003549	HP:0006466	Ankle flexion contracture	5	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0003549	HP:0009473	Joint contracture of the hand	5	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0009473	Joint contracture of the hand	5	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0003273	Hip contracture	5	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	HP:0040283 - Occasional		23
HP:0003549	HP:0034391	Elbow contracture	5	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0003549	HP:0003273	Hip contracture	5	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0003549	HP:0006380	Knee flexion contracture	5	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0003549	HP:0100490	Camptodactyly of finger	5	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		33
HP:0003549	HP:0009473	Joint contracture of the hand	5	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0003549	HP:0009473	Joint contracture of the hand	5	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0003549	HP:0012033	Sacral lipoma	5	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.		111
HP:0003549	HP:0006466	Ankle flexion contracture	5	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	5	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0009473	Joint contracture of the hand	5	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0100490	Camptodactyly of finger	5	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional		14
HP:0003549	HP:0009473	Joint contracture of the hand	5	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0009473	Joint contracture of the hand	5	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0100490	Camptodactyly of finger	5	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0003549	HP:0009473	Joint contracture of the hand	5	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0034391	Elbow contracture	5	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0003549	HP:0100490	Camptodactyly of finger	5	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		14
HP:0003549	HP:0009473	Joint contracture of the hand	5	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0003549	HP:0003273	Hip contracture	5	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0003549	HP:0003273	Hip contracture	5	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0003549	HP:0006380	Knee flexion contracture	5	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0003549	HP:0005745	Congenital foot contractures	5	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040281 - Very frequent		19
HP:0003549	HP:0005745	Congenital foot contractures	5	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0003549	HP:0003273	Hip contracture	5	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0003549	HP:0008366	Foot joint contracture	5	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0003549	HP:0100490	Camptodactyly of finger	5	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		10
HP:0003549	HP:0009473	Joint contracture of the hand	5	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0003549	HP:0009183	Joint contracture of the 5th finger	5	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type	.		10
HP:0003549	HP:0009473	Joint contracture of the hand	5	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0100490	Camptodactyly of finger	5	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0003549	HP:0009473	Joint contracture of the hand	5	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	5	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0100490	Camptodactyly of finger	5	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0009473	Joint contracture of the hand	5	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0100251	Multiple central nervous system lipomas	5	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0003549	HP:0007596	Painful subcutaneous lipomas	6	CL E G H
HP:0003549	HP:0009184	Contracture of the distal interphalangeal joint of the 5th finger	6	CL E G H
HP:0003549	HP:0009186	Contracture of the metacarpophalangeal joint of the 5th finger	6	CL E G H
HP:0003549	HP:0009277	Contracture of the metacarpophalangeal joint of the 4th finger	6	CL E G H
HP:0003549	HP:0009469	Contracture of the distal interphalangeal joint of the 3rd finger	6	CL E G H
HP:0003549	HP:0009470	Contracture of the metacarpophalangeal joint of the 3rd finger	6	CL E G H
HP:0003549	HP:0009538	Contracture of the distal interphalangeal joint of the 2nd finger	6	CL E G H
HP:0003549	HP:0009539	Contracture of the metacarpophalangeal joint of the 2nd finger	6	CL E G H
HP:0003549	HP:0009624	Contractures of the carpometacarpal joint of the thumb	6	CL E G H
HP:0003549	HP:0009625	Contractures of the metacarpophalangeal joint of the thumb	6	CL E G H
HP:0003549	HP:0010213	Contracture of the tarsometatarsal joint of the hallux	6	CL E G H
HP:0003549	HP:0010214	Contracture of the interphalangeal joint of the hallux	6	CL E G H
HP:0003549	HP:0010215	Contractures of the metatarsophalangeal joint of the hallux	6	CL E G H
HP:0003549	HP:0030233	Bethlem sign	6	CL E G H
HP:0003549	HP:0034337	Claw hand deformity	6	CL E G H
HP:0003549	HP:0034393	Elbow extension contracture	6	CL E G H
HP:0003549	HP:0100351	Contractures of the proximal interphalangeal joint of the 5th toe	6	CL E G H
HP:0003549	HP:0100352	Contracture of the distal interphalangeal joint of the 2nd toe	6	CL E G H
HP:0003549	HP:0100353	Contracture of the distal interphalangeal joint of the 3rd toe	6	CL E G H
HP:0003549	HP:0100354	Contracture of the distal interphalangeal joint of the 4th toe	6	CL E G H
HP:0003549	HP:0100355	Contractures of the distal interphalangeal joint of the 5th toe	6	CL E G H
HP:0003549	HP:0100356	Contracture of the metatarsophalangeal joint of the 2nd toe	6	CL E G H
HP:0003549	HP:0100357	Contracture of the metatarsophalangeal joint of the 3rd toe	6	CL E G H
HP:0003549	HP:0100358	Contracture of the metatarsophalangeal joint of the 4th toe	6	CL E G H
HP:0003549	HP:0100359	Contracture of the metatarsophalangeal joint of the 5th toe	6	CL E G H
HP:0003549	HP:0001771	Achilles tendon contracture	6	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0003549	HP:0001771	Achilles tendon contracture	6	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.		50
HP:0003549	HP:0002987	Elbow flexion contracture	6	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0003549	HP:0012785	Flexion contracture of finger	6	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0003549	HP:0001771	Achilles tendon contracture	6	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0003549	HP:0002987	Elbow flexion contracture	6	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		96
HP:0003549	HP:0100490	Camptodactyly of finger	6	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional		23
HP:0003549	HP:0012785	Flexion contracture of finger	6	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0100490	Camptodactyly of finger	6	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0012785	Flexion contracture of finger	6	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0003549	HP:0100490	Camptodactyly of finger	6	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0003549	HP:0012785	Flexion contracture of finger	6	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003549	HP:0001771	Achilles tendon contracture	6	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0003549	HP:0100490	Camptodactyly of finger	6	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0005879	Congenital finger flexion contractures	6	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare		9
HP:0003549	HP:0012785	Flexion contracture of finger	6	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0002987	Elbow flexion contracture	6	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0003549	HP:0001771	Achilles tendon contracture	6	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.		114
HP:0003549	HP:0100490	Camptodactyly of finger	6	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent		5
HP:0003549	HP:0006866	Midline central nervous system lipomas	6	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0012785	Flexion contracture of finger	6	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0006866	Midline central nervous system lipomas	6	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0100490	Camptodactyly of finger	6	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0003549	HP:0006866	Midline central nervous system lipomas	6	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0012785	Flexion contracture of finger	6	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0005830	Flexion contracture of toe	6	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0003549	HP:0002987	Elbow flexion contracture	6	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0003549	HP:0012785	Flexion contracture of finger	6	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0003549	HP:0100490	Camptodactyly of finger	6	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0003549	HP:0012785	Flexion contracture of finger	6	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003549	HP:0100490	Camptodactyly of finger	6	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0005617	Bilateral camptodactyly	6	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0003549	HP:0012785	Flexion contracture of finger	6	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0100490	Camptodactyly of finger	6	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040283 - Occasional		219
HP:0003549	HP:0012785	Flexion contracture of finger	6	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0003549	HP:0100490	Camptodactyly of finger	6	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	6	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0012785	Flexion contracture of finger	6	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0012453	Bilateral wrist flexion contracture	6	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional		145
HP:0003549	HP:0100490	Camptodactyly of finger	6	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	6	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0012785	Flexion contracture of finger	6	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0002987	Elbow flexion contracture	6	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0003549	HP:0012785	Flexion contracture of finger	6	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0003549	HP:0002987	Elbow flexion contracture	6	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		38
HP:0003549	HP:0002987	Elbow flexion contracture	6	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0003549	HP:0100490	Camptodactyly of finger	6	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		101
HP:0003549	HP:0012785	Flexion contracture of finger	6	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0003549	HP:0100349	Contracture of the proximal interphalangeal joint of the 3rd toe	6	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	6	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0005830	Flexion contracture of toe	6	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0005830	Flexion contracture of toe	6	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0003549	HP:0100490	Camptodactyly of finger	6	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0012785	Flexion contracture of finger	6	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0001771	Achilles tendon contracture	6	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.		46
HP:0003549	HP:0012785	Flexion contracture of finger	6	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0003549	HP:0012785	Flexion contracture of finger	6	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent		114
HP:0003549	HP:0100490	Camptodactyly of finger	6	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		85
HP:0003549	HP:0012785	Flexion contracture of finger	6	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0003549	HP:0100490	Camptodactyly of finger	6	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0002987	Elbow flexion contracture	6	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0003549	HP:0005879	Congenital finger flexion contractures	6	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0003549	HP:0012785	Flexion contracture of finger	6	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0100490	Camptodactyly of finger	6	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0003549	HP:0012785	Flexion contracture of finger	6	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0003549	HP:0100490	Camptodactyly of finger	6	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0003549	HP:0012785	Flexion contracture of finger	6	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0003549	HP:0100490	Camptodactyly of finger	6	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0003549	HP:0012785	Flexion contracture of finger	6	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003549	HP:0100490	Camptodactyly of finger	6	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		9
HP:0003549	HP:0012785	Flexion contracture of finger	6	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0003549	HP:0100490	Camptodactyly of finger	6	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		31
HP:0003549	HP:0012785	Flexion contracture of finger	6	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0003549	HP:0100490	Camptodactyly of finger	6	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		50
HP:0003549	HP:0012785	Flexion contracture of finger	6	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0003549	HP:0100490	Camptodactyly of finger	6	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0003549	HP:0012785	Flexion contracture of finger	6	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0005830	Flexion contracture of toe	6	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003549	HP:0002987	Elbow flexion contracture	6	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0003549	HP:0100490	Camptodactyly of finger	6	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0003549	HP:0012785	Flexion contracture of finger	6	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003549	HP:0100490	Camptodactyly of finger	6	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0003549	HP:0012785	Flexion contracture of finger	6	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0003549	HP:0100490	Camptodactyly of finger	6	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0003549	HP:0012785	Flexion contracture of finger	6	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0003549	HP:0100490	Camptodactyly of finger	6	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional		215
HP:0003549	HP:0012785	Flexion contracture of finger	6	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0100490	Camptodactyly of finger	6	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional		222
HP:0003549	HP:0012785	Flexion contracture of finger	6	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0001771	Achilles tendon contracture	6	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0003549	HP:0100490	Camptodactyly of finger	6	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0003549	HP:0012785	Flexion contracture of finger	6	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0003549	HP:0100490	Camptodactyly of finger	6	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003549	HP:0005879	Congenital finger flexion contractures	6	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003549	HP:0012785	Flexion contracture of finger	6	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent		3
HP:0003549	HP:0012785	Flexion contracture of finger	6	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent		284
HP:0003549	HP:0001771	Achilles tendon contracture	6	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0003549	HP:0100490	Camptodactyly of finger	6	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0003549	HP:0012785	Flexion contracture of finger	6	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003549	HP:0100490	Camptodactyly of finger	6	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0003549	HP:0012785	Flexion contracture of finger	6	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0003549	HP:0001771	Achilles tendon contracture	6	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0003549	HP:0100490	Camptodactyly of finger	6	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0003549	HP:0012785	Flexion contracture of finger	6	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003549	HP:0100490	Camptodactyly of finger	6	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0003549	HP:0012785	Flexion contracture of finger	6	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0003549	HP:0001771	Achilles tendon contracture	6	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.		478
HP:0003549	HP:0001771	Achilles tendon contracture	6	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0003549	HP:0100490	Camptodactyly of finger	6	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0003549	HP:0012785	Flexion contracture of finger	6	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003549	HP:0100490	Camptodactyly of finger	6	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0003549	HP:0012785	Flexion contracture of finger	6	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0002987	Elbow flexion contracture	6	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0003549	HP:0002987	Elbow flexion contracture	6	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0003549	HP:0100490	Camptodactyly of finger	6	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0012785	Flexion contracture of finger	6	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	6	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0003549	HP:0012785	Flexion contracture of finger	6	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0003549	HP:0002987	Elbow flexion contracture	6	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0003549	HP:0001771	Achilles tendon contracture	6	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0003549	HP:0100490	Camptodactyly of finger	6	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0012785	Flexion contracture of finger	6	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003549	HP:0012785	Flexion contracture of finger	6	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003549	HP:0100490	Camptodactyly of finger	6	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent		17
HP:0003549	HP:0012785	Flexion contracture of finger	6	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003549	HP:0100490	Camptodactyly of finger	6	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional		38
HP:0003549	HP:0012785	Flexion contracture of finger	6	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0002987	Elbow flexion contracture	6	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0003549	HP:0002987	Elbow flexion contracture	6	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0012785	Flexion contracture of finger	6	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003549	HP:0100490	Camptodactyly of finger	6	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040282 - Frequent		59
HP:0003549	HP:0012785	Flexion contracture of finger	6	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0003549	HP:0012785	Flexion contracture of finger	6	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0003549	HP:0012785	Flexion contracture of finger	6	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0100490	Camptodactyly of finger	6	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0003549	HP:0012785	Flexion contracture of finger	6	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0001771	Achilles tendon contracture	6	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0003549	HP:0002987	Elbow flexion contracture	6	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0003549	HP:0100490	Camptodactyly of finger	6	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0003549	HP:0012785	Flexion contracture of finger	6	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0005830	Flexion contracture of toe	6	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0003549	HP:0100490	Camptodactyly of finger	6	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0003549	HP:0012785	Flexion contracture of finger	6	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0100490	Camptodactyly of finger	6	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0012785	Flexion contracture of finger	6	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0012785	Flexion contracture of finger	6	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0003549	HP:0009626	Contractures of the interphalangeal joint of the thumb	6	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.		13
HP:0003549	HP:0012785	Flexion contracture of finger	6	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0002987	Elbow flexion contracture	6	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.		37
HP:0003549	HP:0100490	Camptodactyly of finger	6	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		4
HP:0003549	HP:0012785	Flexion contracture of finger	6	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0100490	Camptodactyly of finger	6	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0003549	HP:0012785	Flexion contracture of finger	6	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0005830	Flexion contracture of toe	6	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0003549	HP:0001771	Achilles tendon contracture	6	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.		107
HP:0003549	HP:0002987	Elbow flexion contracture	6	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.		107
HP:0003549	HP:0001771	Achilles tendon contracture	6	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		107
HP:0003549	HP:0002987	Elbow flexion contracture	6	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		107
HP:0003549	HP:0100490	Camptodactyly of finger	6	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040282 - Frequent		2
HP:0003549	HP:0012785	Flexion contracture of finger	6	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0003549	HP:0100490	Camptodactyly of finger	6	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0003549	HP:0002987	Elbow flexion contracture	6	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0005830	Flexion contracture of toe	6	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0003549	HP:0012785	Flexion contracture of finger	6	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0100490	Camptodactyly of finger	6	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		20
HP:0003549	HP:0012785	Flexion contracture of finger	6	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0100490	Camptodactyly of finger	6	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0012785	Flexion contracture of finger	6	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0100490	Camptodactyly of finger	6	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		106
HP:0003549	HP:0012785	Flexion contracture of finger	6	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0100490	Camptodactyly of finger	6	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		83
HP:0003549	HP:0012785	Flexion contracture of finger	6	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0002987	Elbow flexion contracture	6	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0003549	HP:0100490	Camptodactyly of finger	6	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		199
HP:0003549	HP:0012785	Flexion contracture of finger	6	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0002987	Elbow flexion contracture	6	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0003549	HP:0002987	Elbow flexion contracture	6	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0003549	HP:0005830	Flexion contracture of toe	6	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0003549	HP:0012453	Bilateral wrist flexion contracture	6	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0003549	HP:0002987	Elbow flexion contracture	6	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040282 - Frequent		18
HP:0003549	HP:0002987	Elbow flexion contracture	6	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0003549	HP:0002987	Elbow flexion contracture	6	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		3
HP:0003549	HP:0002987	Elbow flexion contracture	6	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0003549	HP:0100490	Camptodactyly of finger	6	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		81
HP:0003549	HP:0012785	Flexion contracture of finger	6	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0100490	Camptodactyly of finger	6	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0003549	HP:0012785	Flexion contracture of finger	6	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0003549	HP:0100490	Camptodactyly of finger	6	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		1361
HP:0003549	HP:0012785	Flexion contracture of finger	6	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0002987	Elbow flexion contracture	6	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0003549	HP:0002987	Elbow flexion contracture	6	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0005830	Flexion contracture of toe	6	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003549	HP:0100490	Camptodactyly of finger	6	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0003549	HP:0012785	Flexion contracture of finger	6	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0003549	HP:0100490	Camptodactyly of finger	6	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0002987	Elbow flexion contracture	6	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0005879	Congenital finger flexion contractures	6	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0012785	Flexion contracture of finger	6	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0100490	Camptodactyly of finger	6	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0002987	Elbow flexion contracture	6	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0005617	Bilateral camptodactyly	6	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0012785	Flexion contracture of finger	6	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0012785	Flexion contracture of finger	6	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0002987	Elbow flexion contracture	6	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003549	HP:0100490	Camptodactyly of finger	6	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent		136
HP:0003549	HP:0012785	Flexion contracture of finger	6	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:0100490	Camptodactyly of finger	6	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent		62
HP:0003549	HP:0012785	Flexion contracture of finger	6	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0005830	Flexion contracture of toe	6	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0003549	HP:0100490	Camptodactyly of finger	6	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	HP:0040281 - Very frequent		145
HP:0003549	HP:0012785	Flexion contracture of finger	6	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0003549	HP:0001771	Achilles tendon contracture	6	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0003549	HP:0005830	Flexion contracture of toe	6	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0003549	HP:0001771	Achilles tendon contracture	6	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		68
HP:0003549	HP:0002987	Elbow flexion contracture	6	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		68
HP:0003549	HP:0002987	Elbow flexion contracture	6	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	HP:0003577 - Congenital onset	61
HP:0003549	HP:0001771	Achilles tendon contracture	6	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		157
HP:0003549	HP:0001771	Achilles tendon contracture	6	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0003549	HP:0001771	Achilles tendon contracture	6	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0003549	HP:0001771	Achilles tendon contracture	6	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		184
HP:0003549	HP:0100490	Camptodactyly of finger	6	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent		184
HP:0003549	HP:0012785	Flexion contracture of finger	6	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0003549	HP:0100490	Camptodactyly of finger	6	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0003549	HP:0100490	Camptodactyly of finger	6	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0003549	HP:0002987	Elbow flexion contracture	6	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0003549	HP:0002987	Elbow flexion contracture	6	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0003549	HP:0012785	Flexion contracture of finger	6	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003549	HP:0012785	Flexion contracture of finger	6	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0100490	Camptodactyly of finger	6	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0003549	HP:0012785	Flexion contracture of finger	6	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0100490	Camptodactyly of finger	6	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0003549	HP:0005830	Flexion contracture of toe	6	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0012785	Flexion contracture of finger	6	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0012785	Flexion contracture of finger	6	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0003549	HP:0012785	Flexion contracture of finger	6	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional		111
HP:0003549	HP:0100490	Camptodactyly of finger	6	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0003549	HP:0012785	Flexion contracture of finger	6	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	6	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0003549	HP:0012785	Flexion contracture of finger	6	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0003549	HP:0100490	Camptodactyly of finger	6	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent		52
HP:0003549	HP:0012785	Flexion contracture of finger	6	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0003549	HP:0012785	Flexion contracture of finger	6	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0003549	HP:0100490	Camptodactyly of finger	6	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0003549	HP:0012785	Flexion contracture of finger	6	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0003549	HP:0012785	Flexion contracture of finger	6	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0100490	Camptodactyly of finger	6	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3	HP:0040282 - Frequent		68
HP:0003549	HP:0012785	Flexion contracture of finger	6	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3			68
HP:0003549	HP:0001771	Achilles tendon contracture	6	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0003549	HP:0002987	Elbow flexion contracture	6	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0003549	HP:0005830	Flexion contracture of toe	6	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0100490	Camptodactyly of finger	6	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		3
HP:0003549	HP:0012785	Flexion contracture of finger	6	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0003549	HP:0002987	Elbow flexion contracture	6	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003549	HP:0001771	Achilles tendon contracture	6	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0003549	HP:0002987	Elbow flexion contracture	6	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0003549	HP:0100490	Camptodactyly of finger	6	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0003549	HP:0012785	Flexion contracture of finger	6	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0100490	Camptodactyly of finger	6	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0003549	HP:0012785	Flexion contracture of finger	6	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	6	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040282 - Frequent
HP:0003549	HP:0012785	Flexion contracture of finger	6	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	6	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0012785	Flexion contracture of finger	6	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0002987	Elbow flexion contracture	6	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0012785	Flexion contracture of finger	6	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0100490	Camptodactyly of finger	6	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		10
HP:0003549	HP:0012785	Flexion contracture of finger	6	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0001771	Achilles tendon contracture	6	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional		12
HP:0003549	HP:0100490	Camptodactyly of finger	6	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare		12
HP:0003549	HP:0012785	Flexion contracture of finger	6	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:0100490	Camptodactyly of finger	6	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5	HP:0040282 - Frequent		25
HP:0003549	HP:0012785	Flexion contracture of finger	6	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5			25
HP:0003549	HP:0100490	Camptodactyly of finger	6	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.		25
HP:0003549	HP:0012785	Flexion contracture of finger	6	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V			25
HP:0003549	HP:0100490	Camptodactyly of finger	6	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	6	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.		25
HP:0003549	HP:0012785	Flexion contracture of finger	6	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0001771	Achilles tendon contracture	6	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0003549	HP:0002987	Elbow flexion contracture	6	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003549	HP:0100490	Camptodactyly of finger	6	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0003549	HP:0012785	Flexion contracture of finger	6	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0003549	HP:0005830	Flexion contracture of toe	6	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0003549	HP:0005830	Flexion contracture of toe	6	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0003549	HP:0100490	Camptodactyly of finger	6	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent		86
HP:0003549	HP:0012785	Flexion contracture of finger	6	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0100490	Camptodactyly of finger	6	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent		86
HP:0003549	HP:0012785	Flexion contracture of finger	6	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0100490	Camptodactyly of finger	6	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent		115
HP:0003549	HP:0012785	Flexion contracture of finger	6	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0003549	HP:0100490	Camptodactyly of finger	6	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	6	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0012785	Flexion contracture of finger	6	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0100490	Camptodactyly of finger	6	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0003549	HP:0012785	Flexion contracture of finger	6	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0003549	HP:0100490	Camptodactyly of finger	6	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0003549	HP:0012785	Flexion contracture of finger	6	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0100490	Camptodactyly of finger	6	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0003549	HP:0012785	Flexion contracture of finger	6	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	6	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0005830	Flexion contracture of toe	6	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0002987	Elbow flexion contracture	6	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0003549	HP:0012785	Flexion contracture of finger	6	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0003549	HP:0001771	Achilles tendon contracture	6	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0003549	HP:0002987	Elbow flexion contracture	6	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0003549	HP:0005830	Flexion contracture of toe	6	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0003549	HP:0100490	Camptodactyly of finger	6	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0003549	HP:0012785	Flexion contracture of finger	6	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0003549	HP:0100490	Camptodactyly of finger	6	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0003549	HP:0012785	Flexion contracture of finger	6	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0003549	HP:0100490	Camptodactyly of finger	6	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0005879	Congenital finger flexion contractures	6	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional		4
HP:0003549	HP:0012785	Flexion contracture of finger	6	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0100490	Camptodactyly of finger	6	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	6	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	6	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0012785	Flexion contracture of finger	6	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0100490	Camptodactyly of finger	6	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional		81
HP:0003549	HP:0012785	Flexion contracture of finger	6	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0003549	HP:0002987	Elbow flexion contracture	6	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0003549	HP:0005679	Dupuytren contracture	6	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040283 - Occasional		93
HP:0003549	HP:0012785	Flexion contracture of finger	6	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0003549	HP:0012785	Flexion contracture of finger	6	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0003549	HP:0012785	Flexion contracture of finger	6	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:0012785	Flexion contracture of finger	6	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0003549	HP:0012785	Flexion contracture of finger	6	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0003549	HP:0001771	Achilles tendon contracture	6	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0003549	HP:0002987	Elbow flexion contracture	6	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0003549	HP:0012785	Flexion contracture of finger	6	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0003549	HP:0100490	Camptodactyly of finger	6	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040282 - Frequent		134
HP:0003549	HP:0012785	Flexion contracture of finger	6	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0003549	HP:0100490	Camptodactyly of finger	6	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0012785	Flexion contracture of finger	6	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0002987	Elbow flexion contracture	6	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0003549	HP:0100490	Camptodactyly of finger	6	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.		167
HP:0003549	HP:0012785	Flexion contracture of finger	6	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0001771	Achilles tendon contracture	6	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0003549	HP:0002987	Elbow flexion contracture	6	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0003549	HP:0100490	Camptodactyly of finger	6	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		13
HP:0003549	HP:0012785	Flexion contracture of finger	6	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0100490	Camptodactyly of finger	6	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	6	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0012785	Flexion contracture of finger	6	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0002987	Elbow flexion contracture	6	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0003549	HP:0100490	Camptodactyly of finger	6	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent		144
HP:0003549	HP:0002987	Elbow flexion contracture	6	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0003549	HP:0012785	Flexion contracture of finger	6	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0003549	HP:0100490	Camptodactyly of finger	6	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0002987	Elbow flexion contracture	6	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0003549	HP:0005830	Flexion contracture of toe	6	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	6	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0003549	HP:0012785	Flexion contracture of finger	6	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0100490	Camptodactyly of finger	6	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent		106
HP:0003549	HP:0012785	Flexion contracture of finger	6	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0003549	HP:0001771	Achilles tendon contracture	6	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0003549	HP:0002987	Elbow flexion contracture	6	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0003549	HP:0001771	Achilles tendon contracture	6	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0003549	HP:0002987	Elbow flexion contracture	6	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0003549	HP:0001771	Achilles tendon contracture	6	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0003549	HP:0002987	Elbow flexion contracture	6	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0003549	HP:0002987	Elbow flexion contracture	6	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	.		645
HP:0003549	HP:0002987	Elbow flexion contracture	6	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003549	HP:0100490	Camptodactyly of finger	6	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0003549	HP:0012785	Flexion contracture of finger	6	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0001771	Achilles tendon contracture	6	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0003549	HP:0002987	Elbow flexion contracture	6	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040282 - Frequent		165
HP:0003549	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	6	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0003549	HP:0012785	Flexion contracture of finger	6	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0100490	Camptodactyly of finger	6	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0012785	Flexion contracture of finger	6	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	6	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040282 - Frequent		63
HP:0003549	HP:0012785	Flexion contracture of finger	6	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003549	HP:0002987	Elbow flexion contracture	6	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0012785	Flexion contracture of finger	6	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003549	HP:0100490	Camptodactyly of finger	6	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0003549	HP:0002987	Elbow flexion contracture	6	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0003549	HP:0012785	Flexion contracture of finger	6	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003549	HP:0100490	Camptodactyly of finger	6	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0012785	Flexion contracture of finger	6	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0100490	Camptodactyly of finger	6	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0003549	HP:0012785	Flexion contracture of finger	6	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0100490	Camptodactyly of finger	6	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		228
HP:0003549	HP:0012785	Flexion contracture of finger	6	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0003549	HP:0100490	Camptodactyly of finger	6	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	6	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0003549	HP:0012785	Flexion contracture of finger	6	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0012785	Flexion contracture of finger	6	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0003549	HP:0012785	Flexion contracture of finger	6	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003549	HP:0100490	Camptodactyly of finger	6	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0003549	HP:0012785	Flexion contracture of finger	6	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0003549	HP:0100490	Camptodactyly of finger	6	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0003549	HP:0012785	Flexion contracture of finger	6	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0100490	Camptodactyly of finger	6	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0012785	Flexion contracture of finger	6	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0005830	Flexion contracture of toe	6	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0012785	Flexion contracture of finger	6	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003549	HP:0100490	Camptodactyly of finger	6	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0012785	Flexion contracture of finger	6	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	6	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0005879	Congenital finger flexion contractures	6	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0003549	HP:0012785	Flexion contracture of finger	6	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent		8
HP:0003549	HP:0100490	Camptodactyly of finger	6	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0003549	HP:0100490	Camptodactyly of finger	6	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0003549	HP:0012785	Flexion contracture of finger	6	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0012785	Flexion contracture of finger	6	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0100490	Camptodactyly of finger	6	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		66
HP:0003549	HP:0012785	Flexion contracture of finger	6	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0003549	HP:0002987	Elbow flexion contracture	6	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0005830	Flexion contracture of toe	6	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0003549	HP:0012785	Flexion contracture of finger	6	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0003549	HP:0100490	Camptodactyly of finger	6	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0003549	HP:0012785	Flexion contracture of finger	6	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0002987	Elbow flexion contracture	6	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.		166
HP:0003549	HP:0100490	Camptodactyly of finger	6	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		166
HP:0003549	HP:0012785	Flexion contracture of finger	6	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0003549	HP:0100490	Camptodactyly of finger	6	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		166
HP:0003549	HP:0012785	Flexion contracture of finger	6	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0003549	HP:0002987	Elbow flexion contracture	6	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003549	HP:0100490	Camptodactyly of finger	6	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0002987	Elbow flexion contracture	6	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0005830	Flexion contracture of toe	6	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0012785	Flexion contracture of finger	6	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0002987	Elbow flexion contracture	6	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0003549	HP:0012785	Flexion contracture of finger	6	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0003549	HP:0100490	Camptodactyly of finger	6	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0003549	HP:0012785	Flexion contracture of finger	6	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0001771	Achilles tendon contracture	6	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.		75
HP:0003549	HP:0100490	Camptodactyly of finger	6	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		23
HP:0003549	HP:0012785	Flexion contracture of finger	6	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0003549	HP:0002987	Elbow flexion contracture	6	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0003549	HP:0100490	Camptodactyly of finger	6	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		48
HP:0003549	HP:0012785	Flexion contracture of finger	6	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0003549	HP:0100490	Camptodactyly of finger	6	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		48
HP:0003549	HP:0012785	Flexion contracture of finger	6	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0003549	HP:0002987	Elbow flexion contracture	6	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0003549	HP:0012785	Flexion contracture of finger	6	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional		118
HP:0003549	HP:0001771	Achilles tendon contracture	6	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0003549	HP:0002987	Elbow flexion contracture	6	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0003549	HP:0100490	Camptodactyly of finger	6	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional		217
HP:0003549	HP:0012785	Flexion contracture of finger	6	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0100490	Camptodactyly of finger	6	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040282 - Frequent		187
HP:0003549	HP:0100490	Camptodactyly of finger	6	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0005830	Flexion contracture of toe	6	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome	.		187
HP:0003549	HP:0012785	Flexion contracture of finger	6	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0003549	HP:0012785	Flexion contracture of finger	6	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0100490	Camptodactyly of finger	6	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent		22
HP:0003549	HP:0012785	Flexion contracture of finger	6	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0003549	HP:0100490	Camptodactyly of finger	6	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0005617	Bilateral camptodactyly	6	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0003549	HP:0012785	Flexion contracture of finger	6	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0100490	Camptodactyly of finger	6	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		544
HP:0003549	HP:0012785	Flexion contracture of finger	6	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0001771	Achilles tendon contracture	6	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	HP:0040283 - Occasional		84
HP:0003549	HP:0005830	Flexion contracture of toe	6	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent		15
HP:0003549	HP:0100490	Camptodactyly of finger	6	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0012785	Flexion contracture of finger	6	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0100490	Camptodactyly of finger	6	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0012785	Flexion contracture of finger	6	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:0100490	Camptodactyly of finger	6	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0003549	HP:0012785	Flexion contracture of finger	6	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0100490	Camptodactyly of finger	6	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0012785	Flexion contracture of finger	6	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0100490	Camptodactyly of finger	6	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0003549	HP:0012785	Flexion contracture of finger	6	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:0001771	Achilles tendon contracture	6	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0003549	HP:0100490	Camptodactyly of finger	6	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		53
HP:0003549	HP:0012785	Flexion contracture of finger	6	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0003549	HP:0100490	Camptodactyly of finger	6	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		21
HP:0003549	HP:0012785	Flexion contracture of finger	6	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0003549	HP:0100490	Camptodactyly of finger	6	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		39
HP:0003549	HP:0012785	Flexion contracture of finger	6	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0003549	HP:0100490	Camptodactyly of finger	6	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0012785	Flexion contracture of finger	6	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0002987	Elbow flexion contracture	6	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0003549	HP:0100490	Camptodactyly of finger	6	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040282 - Frequent		59
HP:0003549	HP:0012785	Flexion contracture of finger	6	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0003549	HP:0100490	Camptodactyly of finger	6	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional		59
HP:0003549	HP:0012785	Flexion contracture of finger	6	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0003549	HP:0100490	Camptodactyly of finger	6	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0003549	HP:0012785	Flexion contracture of finger	6	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0003549	HP:0100490	Camptodactyly of finger	6	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0012785	Flexion contracture of finger	6	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	6	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		169
HP:0003549	HP:0012785	Flexion contracture of finger	6	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:0100490	Camptodactyly of finger	6	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		98
HP:0003549	HP:0012785	Flexion contracture of finger	6	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:0005830	Flexion contracture of toe	6	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0003549	HP:0012454	Unilateral wrist flexion contracture	6	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0003549	HP:0100490	Camptodactyly of finger	6	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0003549	HP:0005830	Flexion contracture of toe	6	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0012785	Flexion contracture of finger	6	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0100490	Camptodactyly of finger	6	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0005879	Congenital finger flexion contractures	6	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0003549	HP:0012785	Flexion contracture of finger	6	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0100490	Camptodactyly of finger	6	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0005879	Congenital finger flexion contractures	6	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent		77
HP:0003549	HP:0012785	Flexion contracture of finger	6	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0100490	Camptodactyly of finger	6	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome	HP:0040281 - Very frequent		77
HP:0003549	HP:0012785	Flexion contracture of finger	6	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0003549	HP:0100490	Camptodactyly of finger	6	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040282 - Frequent		77
HP:0003549	HP:0012785	Flexion contracture of finger	6	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0002987	Elbow flexion contracture	6	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0003549	HP:0100490	Camptodactyly of finger	6	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	6	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0003549	HP:0012785	Flexion contracture of finger	6	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0005830	Flexion contracture of toe	6	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0003549	HP:0002987	Elbow flexion contracture	6	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003549	HP:0002987	Elbow flexion contracture	6	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0003549	HP:0002987	Elbow flexion contracture	6	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly	.		8
HP:0003549	HP:0012785	Flexion contracture of finger	6	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly			8
HP:0003549	HP:0001771	Achilles tendon contracture	6	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional		759
HP:0003549	HP:0002987	Elbow flexion contracture	6	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:0003549	HP:0002987	Elbow flexion contracture	6	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	HP:0003577 - Congenital onset	45
HP:0003549	HP:0100490	Camptodactyly of finger	6	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0002987	Elbow flexion contracture	6	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	6	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	6	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0012785	Flexion contracture of finger	6	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0100490	Camptodactyly of finger	6	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0003549	HP:0012785	Flexion contracture of finger	6	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0100490	Camptodactyly of finger	6	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0005617	Bilateral camptodactyly	6	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0012785	Flexion contracture of finger	6	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0001771	Achilles tendon contracture	6	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		213
HP:0003549	HP:0002987	Elbow flexion contracture	6	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent		76
HP:0003549	HP:0100490	Camptodactyly of finger	6	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0003549	HP:0012785	Flexion contracture of finger	6	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:0100350	Contracture of the proximal interphalangeal joint of the 4th toe	6	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0003549	HP:0005830	Flexion contracture of toe	6	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0100490	Camptodactyly of finger	6	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0003549	HP:0012785	Flexion contracture of finger	6	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0003549	HP:0100490	Camptodactyly of finger	6	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0005879	Congenital finger flexion contractures	6	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.		6
HP:0003549	HP:0012785	Flexion contracture of finger	6	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0100490	Camptodactyly of finger	6	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0005830	Flexion contracture of toe	6	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0012785	Flexion contracture of finger	6	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0100490	Camptodactyly of finger	6	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0012785	Flexion contracture of finger	6	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	6	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0003549	HP:0002987	Elbow flexion contracture	6	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0003549	HP:0005830	Flexion contracture of toe	6	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0003549	HP:0012785	Flexion contracture of finger	6	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0002987	Elbow flexion contracture	6	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0003549	HP:0002987	Elbow flexion contracture	6	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0003549	HP:0001771	Achilles tendon contracture	6	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent		6
HP:0003549	HP:0002987	Elbow flexion contracture	6	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0003549	HP:0001771	Achilles tendon contracture	6	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0012785	Flexion contracture of finger	6	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0100490	Camptodactyly of finger	6	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0012785	Flexion contracture of finger	6	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0100490	Camptodactyly of finger	6	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0003549	HP:0012785	Flexion contracture of finger	6	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0008112	Plantar flexion contractures	6	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0003549	HP:0100490	Camptodactyly of finger	6	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0003549	HP:0012785	Flexion contracture of finger	6	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0003549	HP:0100490	Camptodactyly of finger	6	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		3
HP:0003549	HP:0012785	Flexion contracture of finger	6	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0002987	Elbow flexion contracture	6	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003549	HP:0002987	Elbow flexion contracture	6	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0003549	HP:0002987	Elbow flexion contracture	6	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0003549	HP:0100490	Camptodactyly of finger	6	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0003549	HP:0012785	Flexion contracture of finger	6	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0100490	Camptodactyly of finger	6	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	6	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0012785	Flexion contracture of finger	6	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0002987	Elbow flexion contracture	6	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0003549	HP:0012785	Flexion contracture of finger	6	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0003549	HP:0012785	Flexion contracture of finger	6	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003549	HP:0100490	Camptodactyly of finger	6	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0003549	HP:0012785	Flexion contracture of finger	6	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0001215	Camptodactyly of 2nd-5th fingers	6	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0100490	Camptodactyly of finger	6	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0002987	Elbow flexion contracture	6	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0003549	HP:0005830	Flexion contracture of toe	6	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0012785	Flexion contracture of finger	6	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0002987	Elbow flexion contracture	6	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0003549	HP:0002987	Elbow flexion contracture	6	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0003549	HP:0012785	Flexion contracture of finger	6	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0003549	HP:0002987	Elbow flexion contracture	6	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		144
HP:0003549	HP:0100490	Camptodactyly of finger	6	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0005617	Bilateral camptodactyly	6	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0003549	HP:0012785	Flexion contracture of finger	6	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0001771	Achilles tendon contracture	6	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent		132
HP:0003549	HP:0001771	Achilles tendon contracture	6	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040283 - Occasional		83
HP:0003549	HP:0100490	Camptodactyly of finger	6	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent		134
HP:0003549	HP:0012785	Flexion contracture of finger	6	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0100490	Camptodactyly of finger	6	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent		67
HP:0003549	HP:0012785	Flexion contracture of finger	6	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0003549	HP:0009275	Contracture of the distal interphalangeal joint of the 4th finger	6	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	6	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0012785	Flexion contracture of finger	6	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0100490	Camptodactyly of finger	6	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0003549	HP:0012785	Flexion contracture of finger	6	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0003549	HP:0100490	Camptodactyly of finger	6	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		150
HP:0003549	HP:0012785	Flexion contracture of finger	6	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0001771	Achilles tendon contracture	6	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0003549	HP:0100490	Camptodactyly of finger	6	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0003549	HP:0012785	Flexion contracture of finger	6	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0001771	Achilles tendon contracture	6	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0003549	HP:0002987	Elbow flexion contracture	6	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0003549	HP:0002987	Elbow flexion contracture	6	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional		166
HP:0003549	HP:0100490	Camptodactyly of finger	6	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent		166
HP:0003549	HP:0012785	Flexion contracture of finger	6	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003549	HP:0100490	Camptodactyly of finger	6	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0002987	Elbow flexion contracture	6	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent		166
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	6	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional		166
HP:0003549	HP:0012785	Flexion contracture of finger	6	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0100490	Camptodactyly of finger	6	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0002987	Elbow flexion contracture	6	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome	.		68
HP:0003549	HP:0005830	Flexion contracture of toe	6	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0012785	Flexion contracture of finger	6	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0100490	Camptodactyly of finger	6	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare		27
HP:0003549	HP:0012785	Flexion contracture of finger	6	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003549	HP:0100490	Camptodactyly of finger	6	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0003549	HP:0012785	Flexion contracture of finger	6	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0003549	HP:0100490	Camptodactyly of finger	6	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.		24
HP:0003549	HP:0012785	Flexion contracture of finger	6	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0001771	Achilles tendon contracture	6	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0003549	HP:0002987	Elbow flexion contracture	6	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0003549	HP:0002987	Elbow flexion contracture	6	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.		4
HP:0003549	HP:0100490	Camptodactyly of finger	6	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional		260
HP:0003549	HP:0012785	Flexion contracture of finger	6	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0100490	Camptodactyly of finger	6	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040282 - Frequent		6
HP:0003549	HP:0012785	Flexion contracture of finger	6	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0003549	HP:0100490	Camptodactyly of finger	6	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	6	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0012785	Flexion contracture of finger	6	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0100490	Camptodactyly of finger	6	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0012785	Flexion contracture of finger	6	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0001215	Camptodactyly of 2nd-5th fingers	6	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0003549	HP:0001215	Camptodactyly of 2nd-5th fingers	6	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0003549	HP:0100490	Camptodactyly of finger	6	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0100490	Camptodactyly of finger	6	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0012785	Flexion contracture of finger	6	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0012785	Flexion contracture of finger	6	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0002987	Elbow flexion contracture	6	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0003549	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	6	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:0012785	Flexion contracture of finger	6	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:0100490	Camptodactyly of finger	6	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0003549	HP:0012785	Flexion contracture of finger	6	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0003549	HP:0002987	Elbow flexion contracture	6	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.		3
HP:0003549	HP:0002987	Elbow flexion contracture	6	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.		80
HP:0003549	HP:0100490	Camptodactyly of finger	6	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0012785	Flexion contracture of finger	6	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0002987	Elbow flexion contracture	6	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0012785	Flexion contracture of finger	6	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003549	HP:0012785	Flexion contracture of finger	6	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0003549	HP:0001771	Achilles tendon contracture	6	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		1129
HP:0003549	HP:0002987	Elbow flexion contracture	6	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		1129
HP:0003549	HP:0012785	Flexion contracture of finger	6	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0003549	HP:0001771	Achilles tendon contracture	6	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		508
HP:0003549	HP:0002987	Elbow flexion contracture	6	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		508
HP:0003549	HP:0002987	Elbow flexion contracture	6	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0003549	HP:0100490	Camptodactyly of finger	6	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0005830	Flexion contracture of toe	6	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0012785	Flexion contracture of finger	6	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0100490	Camptodactyly of finger	6	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0003549	HP:0012785	Flexion contracture of finger	6	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0003549	HP:0002987	Elbow flexion contracture	6	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate		5
HP:0003549	HP:0100490	Camptodactyly of finger	6	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional		100
HP:0003549	HP:0002987	Elbow flexion contracture	6	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0003549	HP:0012785	Flexion contracture of finger	6	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0100490	Camptodactyly of finger	6	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent		31
HP:0003549	HP:0012785	Flexion contracture of finger	6	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0003549	HP:0002987	Elbow flexion contracture	6	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0003549	HP:0100490	Camptodactyly of finger	6	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional		6
HP:0003549	HP:0012785	Flexion contracture of finger	6	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0003549	HP:0100490	Camptodactyly of finger	6	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0005830	Flexion contracture of toe	6	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0005879	Congenital finger flexion contractures	6	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0012785	Flexion contracture of finger	6	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0100490	Camptodactyly of finger	6	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		239
HP:0003549	HP:0012785	Flexion contracture of finger	6	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0100490	Camptodactyly of finger	6	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		253
HP:0003549	HP:0012785	Flexion contracture of finger	6	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0100490	Camptodactyly of finger	6	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	6	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0012785	Flexion contracture of finger	6	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0012785	Flexion contracture of finger	6	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0003549	HP:0002987	Elbow flexion contracture	6	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0003549	HP:0001771	Achilles tendon contracture	6	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		171
HP:0003549	HP:0002987	Elbow flexion contracture	6	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		171
HP:0003549	HP:0100490	Camptodactyly of finger	6	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0003549	HP:0012785	Flexion contracture of finger	6	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0003549	HP:0100490	Camptodactyly of finger	6	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0003549	HP:0012785	Flexion contracture of finger	6	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0100490	Camptodactyly of finger	6	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		37
HP:0003549	HP:0012785	Flexion contracture of finger	6	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0003549	HP:0100490	Camptodactyly of finger	6	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		43
HP:0003549	HP:0012785	Flexion contracture of finger	6	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0003549	HP:0002987	Elbow flexion contracture	6	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0003549	HP:0100490	Camptodactyly of finger	6	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	6	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0012785	Flexion contracture of finger	6	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0100490	Camptodactyly of finger	6	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0012785	Flexion contracture of finger	6	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0002987	Elbow flexion contracture	6	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0003549	HP:0002987	Elbow flexion contracture	6	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0003549	HP:0012785	Flexion contracture of finger	6	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0003549	HP:0100490	Camptodactyly of finger	6	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		54
HP:0003549	HP:0012785	Flexion contracture of finger	6	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0003549	HP:0002987	Elbow flexion contracture	6	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0003549	HP:0012785	Flexion contracture of finger	6	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0003549	HP:0100490	Camptodactyly of finger	6	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0012785	Flexion contracture of finger	6	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0001771	Achilles tendon contracture	6	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare
HP:0003549	HP:0100490	Camptodactyly of finger	6	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent		171
HP:0003549	HP:0012785	Flexion contracture of finger	6	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0003549	HP:0100490	Camptodactyly of finger	6	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040283 - Occasional		214
HP:0003549	HP:0012785	Flexion contracture of finger	6	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003549	HP:0002987	Elbow flexion contracture	6	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0003549	HP:0002987	Elbow flexion contracture	6	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003549	HP:0001771	Achilles tendon contracture	6	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0003549	HP:0100490	Camptodactyly of finger	6	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		106
HP:0003549	HP:0012785	Flexion contracture of finger	6	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0100490	Camptodactyly of finger	6	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional		64
HP:0003549	HP:0012785	Flexion contracture of finger	6	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0003549	HP:0100490	Camptodactyly of finger	6	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent		7
HP:0003549	HP:0012785	Flexion contracture of finger	6	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0002987	Elbow flexion contracture	6	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0003549	HP:0012785	Flexion contracture of finger	6	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003549	HP:0100490	Camptodactyly of finger	6	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0012785	Flexion contracture of finger	6	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0002987	Elbow flexion contracture	6	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0003549	HP:0100490	Camptodactyly of finger	6	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		33
HP:0003549	HP:0012785	Flexion contracture of finger	6	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0003549	HP:0100490	Camptodactyly of finger	6	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0012785	Flexion contracture of finger	6	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	6	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional		14
HP:0003549	HP:0012785	Flexion contracture of finger	6	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0100490	Camptodactyly of finger	6	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0003549	HP:0012785	Flexion contracture of finger	6	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0002987	Elbow flexion contracture	6	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0003549	HP:0100490	Camptodactyly of finger	6	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		14
HP:0003549	HP:0012785	Flexion contracture of finger	6	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0003549	HP:0001771	Achilles tendon contracture	6	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0003549	HP:0100490	Camptodactyly of finger	6	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		10
HP:0003549	HP:0012785	Flexion contracture of finger	6	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0003549	HP:0012785	Flexion contracture of finger	6	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0003549	HP:0100490	Camptodactyly of finger	6	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0003549	HP:0012785	Flexion contracture of finger	6	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0100490	Camptodactyly of finger	6	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0005617	Bilateral camptodactyly	6	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0012785	Flexion contracture of finger	6	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0006866	Midline central nervous system lipomas	6	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent		5
HP:0003549	HP:0009184	Contracture of the distal interphalangeal joint of the 5th finger	7	CL E G H
HP:0003549	HP:0009469	Contracture of the distal interphalangeal joint of the 3rd finger	7	CL E G H
HP:0003549	HP:0009538	Contracture of the distal interphalangeal joint of the 2nd finger	7	CL E G H
HP:0003549	HP:0010212	Flexion contracture of the hallux	7	CL E G H
HP:0003549	HP:0010345	Flexion contracture of the 5th toe	7	CL E G H
HP:0003549	HP:0030675	Contracture of proximal interphalangeal joints of 2nd-5th fingers	7	CL E G H
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0005879	Congenital finger flexion contractures	7	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare		9
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0003549	HP:0006931	Pericallosal lipoma	7	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0006931	Pericallosal lipoma	7	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0003549	HP:0006931	Pericallosal lipoma	7	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0005617	Bilateral camptodactyly	7	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	7	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0009274	Joint contracture of the 4th finger	7	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	7	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0003549	HP:0001836	Camptodactyly of toe	7	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0010327	Flexion contracture of the 2nd toe	7	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0010333	Flexion contracture of 3rd toe	7	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0010327	Flexion contracture of the 2nd toe	7	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent		101
HP:0003549	HP:0010339	Flexion contracture of the 4th toe	7	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent		101
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0003549	HP:0009600	Flexion contracture of thumb	7	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0005879	Congenital finger flexion contractures	7	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0003549	HP:0001836	Camptodactyly of toe	7	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0005879	Congenital finger flexion contractures	7	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	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:0003549	HP:0009600	Flexion contracture of thumb	7	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:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0003549	HP:0001836	Camptodactyly of toe	7	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		747
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0009600	Flexion contracture of thumb	7	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0005879	Congenital finger flexion contractures	7	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0005617	Bilateral camptodactyly	7	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0009274	Joint contracture of the 4th finger	7	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0003549	HP:0001836	Camptodactyly of toe	7	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.		145
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome			145
HP:0003549	HP:0001836	Camptodactyly of toe	7	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003549	HP:0001836	Camptodactyly of toe	7	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3			68
HP:0003549	HP:0001836	Camptodactyly of toe	7	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5			25
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V			25
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	7	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.		25
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0003549	HP:0001836	Camptodactyly of toe	7	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0010327	Flexion contracture of the 2nd toe	7	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0001836	Camptodactyly of toe	7	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		222
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0005879	Congenital finger flexion contractures	7	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional		4
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	7	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009274	Joint contracture of the 4th finger	7	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	7	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma			100
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma			27
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma			66
HP:0003549	HP:0009600	Flexion contracture of thumb	7	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type			167
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0009537	Flexion contracture of the 2nd finger	7	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	7	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	7	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4			106
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0009319	Joint contracture of the 3rd finger	7	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	7	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	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:0003549	HP:0009600	Flexion contracture of thumb	7	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:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003549	HP:0001836	Camptodactyly of toe	7	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0005879	Congenital finger flexion contractures	7	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1			66
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1			166
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0001836	Camptodactyly of toe	7	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1			48
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0005617	Bilateral camptodactyly	7	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome			59
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0003549	HP:0001836	Camptodactyly of toe	7	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent		29
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0003549	HP:0001836	Camptodactyly of toe	7	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0005879	Congenital finger flexion contractures	7	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0005879	Congenital finger flexion contractures	7	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent		77
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	7	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly	.		8
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0009319	Joint contracture of the 3rd finger	7	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	7	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0009537	Flexion contracture of the 2nd finger	7	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	7	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0005617	Bilateral camptodactyly	7	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003549	HP:0001836	Camptodactyly of toe	7	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0010339	Flexion contracture of the 4th toe	7	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0005879	Congenital finger flexion contractures	7	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.		6
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0001836	Camptodactyly of toe	7	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0009537	Flexion contracture of the 2nd finger	7	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	7	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003549	HP:0009600	Flexion contracture of thumb	7	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003549	HP:0001215	Camptodactyly of 2nd-5th fingers	7	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0001836	Camptodactyly of toe	7	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0005617	Bilateral camptodactyly	7	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4			67
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0009274	Joint contracture of the 4th finger	7	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0009275	Contracture of the distal interphalangeal joint of the 4th finger	7	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0009319	Joint contracture of the 3rd finger	7	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	7	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional		166
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0009319	Joint contracture of the 3rd finger	7	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	7	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0001215	Camptodactyly of 2nd-5th fingers	7	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0003549	HP:0001215	Camptodactyly of 2nd-5th fingers	7	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0005879	Congenital finger flexion contractures	7	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0009274	Joint contracture of the 4th finger	7	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	7	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1			37
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1			43
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1			54
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0003549	HP:0009183	Joint contracture of the 5th finger	7	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type	.		10
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003549	HP:0001220	Interphalangeal joint contracture of finger	7	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0005617	Bilateral camptodactyly	7	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0009184	Contracture of the distal interphalangeal joint of the 5th finger	8	CL E G H
HP:0003549	HP:0009186	Contracture of the metacarpophalangeal joint of the 5th finger	8	CL E G H
HP:0003549	HP:0009277	Contracture of the metacarpophalangeal joint of the 4th finger	8	CL E G H
HP:0003549	HP:0009469	Contracture of the distal interphalangeal joint of the 3rd finger	8	CL E G H
HP:0003549	HP:0009470	Contracture of the metacarpophalangeal joint of the 3rd finger	8	CL E G H
HP:0003549	HP:0009538	Contracture of the distal interphalangeal joint of the 2nd finger	8	CL E G H
HP:0003549	HP:0009539	Contracture of the metacarpophalangeal joint of the 2nd finger	8	CL E G H
HP:0003549	HP:0009624	Contractures of the carpometacarpal joint of the thumb	8	CL E G H
HP:0003549	HP:0009625	Contractures of the metacarpophalangeal joint of the thumb	8	CL E G H
HP:0003549	HP:0010213	Contracture of the tarsometatarsal joint of the hallux	8	CL E G H
HP:0003549	HP:0010214	Contracture of the interphalangeal joint of the hallux	8	CL E G H
HP:0003549	HP:0010215	Contractures of the metatarsophalangeal joint of the hallux	8	CL E G H
HP:0003549	HP:0030675	Contracture of proximal interphalangeal joints of 2nd-5th fingers	8	CL E G H
HP:0003549	HP:0034013	Curvilinear pericallosal lipoma	8	CL E G H
HP:0003549	HP:0034014	Tubulonodular pericallosal lipoma	8	CL E G H
HP:0003549	HP:0100351	Contractures of the proximal interphalangeal joint of the 5th toe	8	CL E G H
HP:0003549	HP:0100352	Contracture of the distal interphalangeal joint of the 2nd toe	8	CL E G H
HP:0003549	HP:0100353	Contracture of the distal interphalangeal joint of the 3rd toe	8	CL E G H
HP:0003549	HP:0100354	Contracture of the distal interphalangeal joint of the 4th toe	8	CL E G H
HP:0003549	HP:0100355	Contractures of the distal interphalangeal joint of the 5th toe	8	CL E G H
HP:0003549	HP:0100356	Contracture of the metatarsophalangeal joint of the 2nd toe	8	CL E G H
HP:0003549	HP:0100357	Contracture of the metatarsophalangeal joint of the 3rd toe	8	CL E G H
HP:0003549	HP:0100358	Contracture of the metatarsophalangeal joint of the 4th toe	8	CL E G H
HP:0003549	HP:0100359	Contracture of the metatarsophalangeal joint of the 5th toe	8	CL E G H
HP:0003549	HP:0100490	Camptodactyly of finger	8	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional		23
HP:0003549	HP:0100490	Camptodactyly of finger	8	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0100490	Camptodactyly of finger	8	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0003549	HP:0100490	Camptodactyly of finger	8	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0003549	HP:0100490	Camptodactyly of finger	8	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent		5
HP:0003549	HP:0100490	Camptodactyly of finger	8	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0003549	HP:0100490	Camptodactyly of finger	8	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0003549	HP:0100490	Camptodactyly of finger	8	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003549	HP:0100490	Camptodactyly of finger	8	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040283 - Occasional		219
HP:0003549	HP:0100490	Camptodactyly of finger	8	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	8	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0100490	Camptodactyly of finger	8	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	8	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0100490	Camptodactyly of finger	8	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		101
HP:0003549	HP:0100349	Contracture of the proximal interphalangeal joint of the 3rd toe	8	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	8	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0003549	HP:0100490	Camptodactyly of finger	8	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0100490	Camptodactyly of finger	8	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		85
HP:0003549	HP:0100490	Camptodactyly of finger	8	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003549	HP:0100490	Camptodactyly of finger	8	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0003549	HP:0100490	Camptodactyly of finger	8	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0003549	HP:0100490	Camptodactyly of finger	8	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0003549	HP:0100490	Camptodactyly of finger	8	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		9
HP:0003549	HP:0100490	Camptodactyly of finger	8	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		31
HP:0003549	HP:0100490	Camptodactyly of finger	8	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		50
HP:0003549	HP:0100490	Camptodactyly of finger	8	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0003549	HP:0100490	Camptodactyly of finger	8	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0003549	HP:0100490	Camptodactyly of finger	8	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0003549	HP:0100490	Camptodactyly of finger	8	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0003549	HP:0100490	Camptodactyly of finger	8	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional		215
HP:0003549	HP:0100490	Camptodactyly of finger	8	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040283 - Occasional		222
HP:0003549	HP:0100490	Camptodactyly of finger	8	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0003549	HP:0100490	Camptodactyly of finger	8	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003549	HP:0100490	Camptodactyly of finger	8	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0003549	HP:0100490	Camptodactyly of finger	8	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0003549	HP:0100490	Camptodactyly of finger	8	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0003549	HP:0100490	Camptodactyly of finger	8	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0003549	HP:0100490	Camptodactyly of finger	8	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0003549	HP:0100490	Camptodactyly of finger	8	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0003549	HP:0100490	Camptodactyly of finger	8	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0003549	HP:0100490	Camptodactyly of finger	8	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0003549	HP:0100490	Camptodactyly of finger	8	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0100490	Camptodactyly of finger	8	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent		17
HP:0003549	HP:0100490	Camptodactyly of finger	8	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional		38
HP:0003549	HP:0100490	Camptodactyly of finger	8	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040282 - Frequent		59
HP:0003549	HP:0100490	Camptodactyly of finger	8	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0003549	HP:0100490	Camptodactyly of finger	8	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0003549	HP:0100490	Camptodactyly of finger	8	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0003549	HP:0100490	Camptodactyly of finger	8	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0009626	Contractures of the interphalangeal joint of the thumb	8	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.		13
HP:0003549	HP:0100490	Camptodactyly of finger	8	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		4
HP:0003549	HP:0100490	Camptodactyly of finger	8	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0003549	HP:0100490	Camptodactyly of finger	8	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040282 - Frequent		2
HP:0003549	HP:0100490	Camptodactyly of finger	8	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0003549	HP:0100490	Camptodactyly of finger	8	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		20
HP:0003549	HP:0100490	Camptodactyly of finger	8	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0003549	HP:0100490	Camptodactyly of finger	8	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		106
HP:0003549	HP:0100490	Camptodactyly of finger	8	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		83
HP:0003549	HP:0100490	Camptodactyly of finger	8	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		199
HP:0003549	HP:0100490	Camptodactyly of finger	8	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		81
HP:0003549	HP:0100490	Camptodactyly of finger	8	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0003549	HP:0100490	Camptodactyly of finger	8	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		1361
HP:0003549	HP:0100490	Camptodactyly of finger	8	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0003549	HP:0100490	Camptodactyly of finger	8	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0100490	Camptodactyly of finger	8	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0100490	Camptodactyly of finger	8	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent		136
HP:0003549	HP:0100490	Camptodactyly of finger	8	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent		62
HP:0003549	HP:0100490	Camptodactyly of finger	8	FGFR3 CL E G H	2261	3690	ORPHA:85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	HP:0040281 - Very frequent		145
HP:0003549	HP:0100490	Camptodactyly of finger	8	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent		184
HP:0003549	HP:0100490	Camptodactyly of finger	8	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0003549	HP:0100490	Camptodactyly of finger	8	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0003549	HP:0100490	Camptodactyly of finger	8	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0003549	HP:0100490	Camptodactyly of finger	8	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0003549	HP:0100490	Camptodactyly of finger	8	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0003549	HP:0100490	Camptodactyly of finger	8	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0003549	HP:0100490	Camptodactyly of finger	8	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent		52
HP:0003549	HP:0100490	Camptodactyly of finger	8	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0003549	HP:0100490	Camptodactyly of finger	8	GJA1 CL E G H	2697	4274	ORPHA:93404	Syndactyly type 3	HP:0040282 - Frequent		68
HP:0003549	HP:0100490	Camptodactyly of finger	8	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		3
HP:0003549	HP:0100490	Camptodactyly of finger	8	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0003549	HP:0100490	Camptodactyly of finger	8	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0003549	HP:0100490	Camptodactyly of finger	8	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040282 - Frequent
HP:0003549	HP:0100490	Camptodactyly of finger	8	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003549	HP:0100490	Camptodactyly of finger	8	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		10
HP:0003549	HP:0100490	Camptodactyly of finger	8	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare		12
HP:0003549	HP:0100490	Camptodactyly of finger	8	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5	HP:0040282 - Frequent		25
HP:0003549	HP:0100490	Camptodactyly of finger	8	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.		25
HP:0003549	HP:0100490	Camptodactyly of finger	8	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1			25
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	8	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.		25
HP:0003549	HP:0100490	Camptodactyly of finger	8	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0003549	HP:0100490	Camptodactyly of finger	8	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent		86
HP:0003549	HP:0100490	Camptodactyly of finger	8	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent		86
HP:0003549	HP:0100490	Camptodactyly of finger	8	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent		115
HP:0003549	HP:0100490	Camptodactyly of finger	8	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	8	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0003549	HP:0100490	Camptodactyly of finger	8	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0003549	HP:0100490	Camptodactyly of finger	8	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0003549	HP:0100490	Camptodactyly of finger	8	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0003549	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	8	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003549	HP:0100490	Camptodactyly of finger	8	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0003549	HP:0100490	Camptodactyly of finger	8	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0003549	HP:0100490	Camptodactyly of finger	8	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0003549	HP:0100490	Camptodactyly of finger	8	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	8	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	8	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0100490	Camptodactyly of finger	8	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional		81
HP:0003549	HP:0100490	Camptodactyly of finger	8	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040282 - Frequent		134
HP:0003549	HP:0100490	Camptodactyly of finger	8	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0100490	Camptodactyly of finger	8	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.		167
HP:0003549	HP:0100490	Camptodactyly of finger	8	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		13
HP:0003549	HP:0100490	Camptodactyly of finger	8	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	8	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0100490	Camptodactyly of finger	8	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent		144
HP:0003549	HP:0100490	Camptodactyly of finger	8	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	8	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0003549	HP:0100490	Camptodactyly of finger	8	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent		106
HP:0003549	HP:0100490	Camptodactyly of finger	8	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0003549	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	8	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0003549	HP:0100490	Camptodactyly of finger	8	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0100490	Camptodactyly of finger	8	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040282 - Frequent		63
HP:0003549	HP:0100490	Camptodactyly of finger	8	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0003549	HP:0100490	Camptodactyly of finger	8	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0100490	Camptodactyly of finger	8	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0003549	HP:0100490	Camptodactyly of finger	8	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		228
HP:0003549	HP:0100490	Camptodactyly of finger	8	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	8	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0003549	HP:0100490	Camptodactyly of finger	8	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0003549	HP:0100490	Camptodactyly of finger	8	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0003549	HP:0100490	Camptodactyly of finger	8	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0003549	HP:0100490	Camptodactyly of finger	8	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0100490	Camptodactyly of finger	8	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0003549	HP:0100490	Camptodactyly of finger	8	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0003549	HP:0100490	Camptodactyly of finger	8	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0003549	HP:0100490	Camptodactyly of finger	8	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		66
HP:0003549	HP:0100490	Camptodactyly of finger	8	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0003549	HP:0100490	Camptodactyly of finger	8	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		166
HP:0003549	HP:0100490	Camptodactyly of finger	8	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		166
HP:0003549	HP:0100490	Camptodactyly of finger	8	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003549	HP:0100490	Camptodactyly of finger	8	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0003549	HP:0100490	Camptodactyly of finger	8	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		23
HP:0003549	HP:0100490	Camptodactyly of finger	8	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		48
HP:0003549	HP:0100490	Camptodactyly of finger	8	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		48
HP:0003549	HP:0100490	Camptodactyly of finger	8	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional		217
HP:0003549	HP:0100490	Camptodactyly of finger	8	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040282 - Frequent		187
HP:0003549	HP:0100490	Camptodactyly of finger	8	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0003549	HP:0100490	Camptodactyly of finger	8	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040281 - Very frequent		22
HP:0003549	HP:0100490	Camptodactyly of finger	8	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003549	HP:0100490	Camptodactyly of finger	8	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		544
HP:0003549	HP:0100490	Camptodactyly of finger	8	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional		5
HP:0003549	HP:0100490	Camptodactyly of finger	8	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional		1
HP:0003549	HP:0100490	Camptodactyly of finger	8	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0003549	HP:0100490	Camptodactyly of finger	8	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0003549	HP:0100490	Camptodactyly of finger	8	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0003549	HP:0100490	Camptodactyly of finger	8	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		53
HP:0003549	HP:0100490	Camptodactyly of finger	8	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		21
HP:0003549	HP:0100490	Camptodactyly of finger	8	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		39
HP:0003549	HP:0100490	Camptodactyly of finger	8	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0100490	Camptodactyly of finger	8	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040282 - Frequent		59
HP:0003549	HP:0100490	Camptodactyly of finger	8	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional		59
HP:0003549	HP:0100490	Camptodactyly of finger	8	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0003549	HP:0100490	Camptodactyly of finger	8	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0100490	Camptodactyly of finger	8	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		169
HP:0003549	HP:0100490	Camptodactyly of finger	8	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		98
HP:0003549	HP:0100490	Camptodactyly of finger	8	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0003549	HP:0100490	Camptodactyly of finger	8	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0003549	HP:0100490	Camptodactyly of finger	8	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0003549	HP:0100490	Camptodactyly of finger	8	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome	HP:0040281 - Very frequent		77
HP:0003549	HP:0100490	Camptodactyly of finger	8	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040282 - Frequent		77
HP:0003549	HP:0100490	Camptodactyly of finger	8	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	8	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0003549	HP:0100490	Camptodactyly of finger	8	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	8	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	8	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0100490	Camptodactyly of finger	8	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0003549	HP:0100490	Camptodactyly of finger	8	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0100490	Camptodactyly of finger	8	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0003549	HP:0100350	Contracture of the proximal interphalangeal joint of the 4th toe	8	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0003549	HP:0100490	Camptodactyly of finger	8	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0003549	HP:0100490	Camptodactyly of finger	8	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0003549	HP:0100490	Camptodactyly of finger	8	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003549	HP:0100490	Camptodactyly of finger	8	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0100490	Camptodactyly of finger	8	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0003549	HP:0100490	Camptodactyly of finger	8	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0003549	HP:0100490	Camptodactyly of finger	8	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0003549	HP:0100490	Camptodactyly of finger	8	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0003549	HP:0100490	Camptodactyly of finger	8	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		3
HP:0003549	HP:0100490	Camptodactyly of finger	8	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0003549	HP:0100490	Camptodactyly of finger	8	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	8	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0100490	Camptodactyly of finger	8	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0003549	HP:0100490	Camptodactyly of finger	8	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0100490	Camptodactyly of finger	8	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003549	HP:0100490	Camptodactyly of finger	8	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent		134
HP:0003549	HP:0100490	Camptodactyly of finger	8	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040281 - Very frequent		67
HP:0003549	HP:0009275	Contracture of the distal interphalangeal joint of the 4th finger	8	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	8	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0100490	Camptodactyly of finger	8	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0003549	HP:0100490	Camptodactyly of finger	8	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		150
HP:0003549	HP:0100490	Camptodactyly of finger	8	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0003549	HP:0100490	Camptodactyly of finger	8	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent		166
HP:0003549	HP:0100490	Camptodactyly of finger	8	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	8	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional		166
HP:0003549	HP:0100490	Camptodactyly of finger	8	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0003549	HP:0100490	Camptodactyly of finger	8	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare		27
HP:0003549	HP:0100490	Camptodactyly of finger	8	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0003549	HP:0100490	Camptodactyly of finger	8	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.		24
HP:0003549	HP:0100490	Camptodactyly of finger	8	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional		260
HP:0003549	HP:0100490	Camptodactyly of finger	8	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040282 - Frequent		6
HP:0003549	HP:0100490	Camptodactyly of finger	8	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	8	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0100490	Camptodactyly of finger	8	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0003549	HP:0100490	Camptodactyly of finger	8	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0003549	HP:0100490	Camptodactyly of finger	8	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0003549	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	8	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003549	HP:0100490	Camptodactyly of finger	8	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0003549	HP:0100490	Camptodactyly of finger	8	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		1
HP:0003549	HP:0100490	Camptodactyly of finger	8	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0003549	HP:0100490	Camptodactyly of finger	8	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0003549	HP:0100490	Camptodactyly of finger	8	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional		100
HP:0003549	HP:0100490	Camptodactyly of finger	8	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent		31
HP:0003549	HP:0100490	Camptodactyly of finger	8	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional		6
HP:0003549	HP:0100490	Camptodactyly of finger	8	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0100490	Camptodactyly of finger	8	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		239
HP:0003549	HP:0100490	Camptodactyly of finger	8	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		253
HP:0003549	HP:0100490	Camptodactyly of finger	8	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	8	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0100490	Camptodactyly of finger	8	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0003549	HP:0100490	Camptodactyly of finger	8	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0003549	HP:0100490	Camptodactyly of finger	8	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		37
HP:0003549	HP:0100490	Camptodactyly of finger	8	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		43
HP:0003549	HP:0100490	Camptodactyly of finger	8	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0009697	Contracture of the distal interphalangeal joint of the fingers	8	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003549	HP:0100490	Camptodactyly of finger	8	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0100490	Camptodactyly of finger	8	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent		54
HP:0003549	HP:0100490	Camptodactyly of finger	8	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0100490	Camptodactyly of finger	8	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent		171
HP:0003549	HP:0100490	Camptodactyly of finger	8	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040283 - Occasional		214
HP:0003549	HP:0100490	Camptodactyly of finger	8	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		106
HP:0003549	HP:0100490	Camptodactyly of finger	8	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional		64
HP:0003549	HP:0100490	Camptodactyly of finger	8	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent		7
HP:0003549	HP:0100490	Camptodactyly of finger	8	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0003549	HP:0100490	Camptodactyly of finger	8	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		33
HP:0003549	HP:0100490	Camptodactyly of finger	8	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0003549	HP:0100490	Camptodactyly of finger	8	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional		14
HP:0003549	HP:0100490	Camptodactyly of finger	8	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0003549	HP:0100490	Camptodactyly of finger	8	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		14
HP:0003549	HP:0100490	Camptodactyly of finger	8	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional		10
HP:0003549	HP:0100490	Camptodactyly of finger	8	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0003549	HP:0100490	Camptodactyly of finger	8	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0009184	Contracture of the distal interphalangeal joint of the 5th finger	9	CL E G H
HP:0003549	HP:0009469	Contracture of the distal interphalangeal joint of the 3rd finger	9	CL E G H
HP:0003549	HP:0009538	Contracture of the distal interphalangeal joint of the 2nd finger	9	CL E G H
HP:0003549	HP:0005879	Congenital finger flexion contractures	9	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare		9
HP:0003549	HP:0005617	Bilateral camptodactyly	9	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	9	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003549	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	9	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0003549	HP:0005879	Congenital finger flexion contractures	9	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0003549	HP:0005879	Congenital finger flexion contractures	9	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003549	HP:0005879	Congenital finger flexion contractures	9	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003549	HP:0005617	Bilateral camptodactyly	9	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	9	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.		25
HP:0003549	HP:0005879	Congenital finger flexion contractures	9	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional		4
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	9	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	9	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0003549	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	9	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	9	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	9	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0003549	HP:0005879	Congenital finger flexion contractures	9	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0003549	HP:0005617	Bilateral camptodactyly	9	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0003549	HP:0005879	Congenital finger flexion contractures	9	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0003549	HP:0005879	Congenital finger flexion contractures	9	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent		77
HP:0003549	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	9	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	9	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	9	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003549	HP:0005617	Bilateral camptodactyly	9	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003549	HP:0005879	Congenital finger flexion contractures	9	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.		6
HP:0003549	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	9	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003549	HP:0001215	Camptodactyly of 2nd-5th fingers	9	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0003549	HP:0005617	Bilateral camptodactyly	9	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0003549	HP:0009275	Contracture of the distal interphalangeal joint of the 4th finger	9	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	9	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional		166
HP:0003549	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	9	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0003549	HP:0001215	Camptodactyly of 2nd-5th fingers	9	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0003549	HP:0001215	Camptodactyly of 2nd-5th fingers	9	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0003549	HP:0005879	Congenital finger flexion contractures	9	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0003549	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	9	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0003549	HP:0005617	Bilateral camptodactyly	9	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0003549	HP:0030675	Contracture of proximal interphalangeal joints of 2nd-5th fingers	10	CL E G H

Genes (1527) :ABCA4 ABCC6 ABCC8 ABCC9 ABCD1 ABCD4 ABHD12 ABL1 ACADM ACADS ACER3 ACP4 ACTA1 ACTA2 ACTB ACTC1 ACTG2 ACTN2 ADA2 ADAMTS2 ADAMTS3 ADAMTSL2 ADAR ADAT3 ADCY6 ADGRG1 ADGRG6 ADGRV1 ADNP AEBP1 AGA AGBL5 AGGF1 AGPAT2 AGRN AGTPBP1 AHI1 AHR AHSG AIFM1 AIMP1 AIMP2 AIRE AKT1 AKT2 ALAD ALB ALDH18A1 ALDH1A2 ALDH3A2 ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG8 ALG9 ALMS1 ALPL ALS2 ALX1 ALX3 AMBN AMELX AMER1 AMH AMHR2 AMTN ANAPC1 ANAPC7 ANKH ANKLE2 ANKRD1 ANKRD55 ANO5 ANTXR1 ANTXR2 AP1S2 AP2S1 AP4B1 AP4E1 AP4S1 APC APC2 AR ARF1 ARFGEF2 ARHGEF18 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARMC5 ARPC1B ARPC4 ARSB ARVCF ARX ASAH1 ASCC1 ASXL1 ASXL3 ATAD1 ATP11A ATP1A2 ATP5F1D ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATP7B ATPAF2 ATR ATRIP ATRX AUTS2 AXIN2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D2 BAG3 BAG5 BANF1 BAZ1B BBS1 BBS2 BCAS3 BCL11B BCL7B BCOR BCR BEST1 BGN BHLHA9 BICD2 BIN1 BLM BLNK BLTP1 BMP1 BMP4 BMPER BMPR1A BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BSCL2 BTK BTNL2 BUD23 C18ORF32 C19ORF12 C1R C1S CA4 CACNA1A CACNA1C CACNA1E CADM3 CAMTA1 CANT1 CAP2 CAPN3 CARMIL2 CARS1 CASK CASP10 CASZ1 CAV1 CAVIN1 CBS CC2D2A CCBE1 CCDC22 CCDC32 CCDC47 CCDC8 CCL2 CCN2 CCN6 CCR6 CD247 CD79A CD79B CD96 CDC42 CDC42BPB CDC45 CDC6 CDC73 CDCA7 CDH11 CDH23 CDH3 CDHR1 CDK13 CDK5 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CDON CDT1 CENPE CENPJ CEP120 CEP152 CEP55 CERKL CFAP418 CFI CFL2 CHAMP1 CHAT CHCHD10 CHD7 CHMP1A CHN1 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CHUK CIB2 CIDEC CLCF1 CLCN3 CLCN4 CLCNKB CLDN1 CLDN11 CLDN19 CLEC7A CLIC2 CLIP2 CLMP CLPB CLRN1 CNGA1 CNGB1 CNNM4 CNTN1 CNTNAP1 COASY COG1 COG5 COG6 COL11A1 COL11A2 COL12A1 COL13A1 COL17A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COLEC10 COLEC11 COMT COQ7 COX7B CPLX1 CPOX CPT2 CRB1 CREBBP CRKL CRLF1 CRPPA CRX CRYAB CSGALNACT1 CSRP3 CTBP1 CTCF CTDP1 CTNND2 CTSC CTSK CUL4B CUL7 CWC27 CXCR4 CYBA CYBB CYP26C1 CYP27B1 CYP2R1 DACT1 DAG1 DARS2 DCHS1 DCX DDHD2 DDOST DDR2 DDX59 DDX6 DEGS1 DES DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHODH DHX16 DHX38 DIS3L2 DISP1 DLK1 DLL1 DLL3 DLX3 DMD DMP1 DMXL2 DNA2 DNAJB6 DNAJC21 DNAJC30 DNASE2 DNM2 DNMT3A DNMT3B DOK7 DOLK DPAGT1 DPF2 DPH1 DPM1 DPM2 DSE DSG2 DSP DSPP DST DUOX2 DUOXA2 DUSP6 DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A DYSF EBP ECE1 ECEL1 ECM1 EDA EDARADD EED EFEMP2 EFNB1 EHMT1 EIF4H EIF5A ELANE ELMO2 ELN ELOVL4 EMD EMG1 EN1 ENAM ENPP1 EOGT EP300 EPB41L1 EPCAM EPHB4 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ERMARD ESCO2 ESPN ESS2 EXOC2 EXOC6B EXOC7 EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXTL3 EYS EZH2 F8 FAM161A FAM20A FAM20C FAM83H FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAS FASLG FAT4 FBLN5 FBN1 FBN2 FBXO28 FBXW11 FCSK FDFT1 FERMT1 FGD1 FGF10 FGF17 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FH FHL1 FHL2 FIBP FIG4 FITM2 FKBP10 FKBP14 FKBP6 FKRP FKTN FLCN FLI1 FLNA FLNB FLRT1 FLT4 FLVCR1 FLVCR2 FOCAD FOS FOXC2 FOXE3 FOXF1 FOXH1 FOXP1 FRAS1 FREM1 FREM2 FSCN2 FTO FUCA1 FUS FUT8 FUZ FXYD2 FZD2 G6PC3 GABRD GAD1 GALNS GALNT3 GARS1 GAS1 GATA1 GATA2 GATA4 GATA6 GATAD1 GBA1 GBE1 GCH1 GCK GCM2 GDAP1 GDF1 GDF11 GDF5 GFI1 GFM2 GFPT1 GJA1 GJA5 GJA8 GJB1 GJB2 GJB6 GJC2 GLB1 GLE1 GLI2 GLI3 GLIS3 GLRA1 GLRB GLUL GMNN GMPPB GNA11 GNAO1 GNAS GNB2 GNE GNPAT GNPTAB GNRH1 GNRHR GNS GON7 GORAB GP1BB GPC3 GPC4 GPC6 GPHN GPKOW GPR68 GPT2 GRHL2 GRIA4 GRID2 GRIN1 GRIN2B GRIP1 GRM7 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUSB H1-4 H19 H19-ICR H3-3A H4C3 H4C5 H4C9 HACD1 HAND2 HAVCR2 HBA1 HBA2 HCCS HDAC4 HDAC8 HELLS HES7 HESX1 HEXB HEY2 HGSNAT HIC1 HIKESHI HINT1 HIRA HIVEP2 HLA-A HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HMGA2 HOXD13 HPDL HPGD HRAS HS2ST1 HS6ST1 HSPD1 HSPG2 HUWE1 HYAL1 HYLS1 HYMAI IARS2 IBA57 IDH1 IDH3A IDH3B IDS IDUA IFIH1 IFNG IFT122 IFT140 IFT172 IFT43 IFT52 IFT80 IFT81 IFT88 IGF1R IGF2 IGHM IGHMBP2 IGLL1 IKBKG IL17F IL17RA IL17RC IL2RA IL2RB IL6R IL6ST IMPDH1 IMPDH2 IMPG1 IMPG2 INPP5E INPP5K INS INSR IPO8 IRF5 IRF6 IRX5 ISL1 ITCH ITGA6 ITGA7 ITGB4 ITGB6 IYD JAG2 JMJD1C JUP KAT6B KBTBD13 KCNA1 KCNAB2 KCNH1 KCNJ1 KCNJ11 KCNJ2 KCNJ6 KCNJ8 KCNK9 KCNN3 KCNQ1 KCNQ1OT1 KDM3B KDM5B KDM5C KDM6A KIAA0319L KIAA0586 KIAA0753 KIAA1549 KIDINS220 KIF11 KIF14 KIF15 KIF1A KIF22 KIF5A KIF5C KIF7 KISS1 KISS1R KIZ KLC2 KLHL40 KLHL41 KLHL7 KLHL9 KLK4 KLLN KMT2B KMT2C KMT2D KNSTRN KRAS KRT1 KRT14 KRT16 KRT5 KRT9 KY L1CAM LAGE3 LAMA2 LAMA3 LAMA4 LAMA5 LAMB3 LAMC2 LARGE1 LBR LCK LDB3 LDHD LEMD2 LEMD3 LETM1 LFNG LGI4 LHX3 LHX4 LIAS LIFR LIMK1 LIMS2 LIPE LMBR1 LMBRD2 LMF1 LMNA LMNB1 LMNB2 LMOD1 LMOD3 LMX1B LONP1 LOX LPIN2 LRAT LRP1 LRP2 LRP4 LRP6 LRRC8A LSM11 LSS LTBP1 LTBP3 LTBP4 LUZP1 LZTR1 MAD2L2 MAF MAFB MAGEL2 MAK MAMLD1 MAN1B1 MAN2B1 MAP1B MAP3K20 MAP3K7 MAPK1 MAPRE2 MASP1 MAT2A MBTPS2 MC4R MCTP2 MDFIC MECP2 MECR MED12 MED13L MED25 MEFV MEG3 MEGF10 MEGF8 MEIS2 MEN1 MERTK MESP2 MET METTL27 MFAP5 MFN2 MIA3 MID1 MKS1 MLH1 MLH3 MLXIPL MMP1 MMP14 MMP2 MMP20 MMP23B MN1 MORC2 MPDU1 MPEG1 MPLKIP MPV17 MRPS34 MSH2 MSH6 MSL3 MSTO1 MSX1 MTHFR MTM1 MTMR14 MTOR MTRFR MTX2 MUSK MYBPC1 MYBPC3 MYH11 MYH2 MYH3 MYH6 MYH7 MYH8 MYL1 MYL11 MYL2 MYLK MYMK MYO18B MYO7A MYO9A MYOD1 MYOT MYPN MYRF MYSM1 NAA10 NACC1 NALCN NARS1 NAT8L NCAPG2 NCF1 NCF2 NCSTN ND5 NDE1 NDUFA8 NDUFAF4 NDUFAF5 NDUFB11 NEB NECTIN1 NECTIN4 NEDD4L NEFL NEK2 NEK9 NELFA NEU1 NEUROD2 NEXN NF1 NFIA NFIX NGLY1 NIPBL NKAP NKX2-5 NKX3-2 NLRP1 NLRP3 NMNAT1 NOD2 NODAL NOG NOTCH1 NOTCH2 NOTCH3 NPHP3 NPPA NR2E3 NR2F2 NR3C1 NR4A2 NRCAM NRL NSD1 NSD2 NSDHL NSMF NSRP1 NSUN2 NT5C2 NTRK1 NUP107 NUP133 NUP188 NUP85 NUP88 NXN OBSL1 OCLN OCRL ODAPH ODC1 OFD1 OPA1 ORAI1 ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B OTULIN P3H1 P4HB P4HTM PACS1 PAFAH1B1 PAK2 PALB2 PAX3 PAX7 PAX8 PAX9 PBX1 PCARE PCDH15 PCNA PCNT PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6G PDE8B PDGFRB PDHA1 PDPN PDX1 PDZD7 PERP PEX1 PEX2 PEX5 PEX6 PEX7 PGAP1 PHACTR1 PHEX PHF6 PHGDH PI4KA PIEZO1 PIEZO2 PIGA PIGG PIGL PIGN PIGP PIGQ PIGS PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PIP5K1C PITX1 PKP1 PLA2G6 PLAA PLAG1 PLAGL1 PLCG2 PLCH1 PLD1 PLEC PLEKHG5 PLIN1 PLK4 PLN PLOD1 PLOD2 PLOD3 PLP1 PLXND1 PMM2 PMP22 PMS1 PMS2 PNKP PNPT1 POGZ POLA1 POLD1 POLR1B POLR1C POLR1D POLR2A POLR3A POLR3GL POMC POMGNT1 POMK POMP POMT1 POMT2 POP1 POR PORCN POU1F1 PPARG PPCS PPIB PPM1D PPOX PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP2R5D PPP3CA PPT1 PQBP1 PRCD PRDM12 PRDM16 PRDM5 PRG4 PRIM1 PRKACA PRKAR1A PRKCD PRKCZ PRKG1 PRKG2 PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRR12 PRUNE1 PSAT1 PSEN1 PSEN2 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTCH1 PTDSS1 PTEN PTF1A PTH1R PTPN2 PTPN22 PTRH2 PUF60 PYCR1 PYCR2 PYROXD1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC2 RAD21 RAD51 RAD51C RAF1 RAPSN RARB RARS2 RASGRP1 RBBP8 RBM20 RBM28 RBP3 RDH12 RECQL4 REEP1 REEP6 RELT RERE REV3L RFC1 RFC2 RFT1 RFWD3 RGR RHO RHOA RIC1 RIN2 RIPK4 RIPPLY2 RLBP1 RLIM RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF13 RNF2 RNR1 RNU4ATAC RNU7-1 ROGDI ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1L RPL10 RPS20 RPS26 RPS28 RPS6KA3 RREB1 RSPO2 RTL1 RTTN RUNX2 RYR1 SAG SALL1 SALL4 SAMHD1 SATB1 SATB2 SCAPER SCARF2 SCN1B SCN2A SCN4A SCN5A SCUBE3 SCYL2 SDHA SDHAF1 SDHB SDHC SDHD SEC23B SEC24C SEC24D SEC31A SELENON SEMA4A SEMA5A SEPSECS SERPINH1 SET SETBP1 SETD2 SF3B4 SGCA SGCD SGCG SGSH SH2B1 SH3BP2 SH3PXD2B SHANK3 SHH SHOC2 SHPK SIGMAR1 SIK1 SIK3 SIL1 SIN3A SIX3 SKI SKIC2 SKIC3 SLC10A7 SLC12A1 SLC12A3 SLC12A6 SLC13A5 SLC16A2 SLC18A3 SLC1A2 SLC1A4 SLC24A4 SLC25A1 SLC25A19 SLC25A22 SLC25A24 SLC25A4 SLC25A46 SLC26A2 SLC29A3 SLC2A10 SLC2A2 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC35D1 SLC37A4 SLC39A13 SLC39A14 SLC39A8 SLC5A5 SLC5A6 SLC5A7 SLC6A5 SLC6A9 SLC7A14 SLC9A6 SLURP1 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCAD1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMCHD1 SMG9 SMOC1 SMOC2 SMPD4 SMS SNAP25 SNIP1 SNRNP200 SNRPB SNX14 SON SOX10 SOX11 SOX18 SOX4 SOX6 SOX9 SP6 SPART SPATA7 SPECC1L SPEG SPEN SPG11 SPRED1 SPRTN SPRY4 SPTBN4 SPTLC1 SRCAP SRD5A3 SRP54 SRPX2 STAC3 STAG2 STAT3 STAT4 STIL STIM1 STRA6 STX16 STX1A SUCLG1 SUMO1 SUZ12 SVIL SYNE1 SYNE2 SYT1 SYT2 TAC3 TACR3 TAF1 TAF1A TAFAZZIN TAPT1 TARS1 TASP1 TBC1D20 TBC1D2B TBCD TBCE TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX3 TBX4 TBXT TCAP TCF3 TCF4 TCIRG1 TCOF1 TCTN3 TDGF1 TELO2 TENT5A TFAP2A TFE3 TG TGDS TGFA TGFB1 TGFB2 TGFB3 TGFBI TGFBR1 TGFBR2 TGIF1 TGM1 THOC6 THRA TLK2 TMCO1 TMEM107 TMEM165 TMEM216 TMEM218 TMEM222 TMEM270 TMEM43 TMEM67 TMEM70 TMEM94 TMPO TMTC3 TNFRSF11A TNFRSF11B TNFRSF1A TNNC1 TNNI2 TNNI3 TNNT1 TNNT2 TNNT3 TNPO3 TNRC6B TNXB TOP3A TOPORS TOR1A TOR1AIP1 TP53 TP53RK TP63 TPM1 TPM2 TPM3 TPO TPRKB TRAF3IP2 TRAF7 TRAIP TRAK1 TREM2 TREX1 TRIM2 TRIM37 TRIM8 TRIP11 TRIP13 TRIP4 TRMT10A TRNE TRNF TRNH TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 TRPS1 TRPV3 TRPV4 TRRAP TSC1 TSC2 TSEN54 TSHB TSHR TTC26 TTC7A TTC8 TTN TUB TUBA1A TUBB TUBB3 TULP1 TWIST2 TXNL4A TXNRD2 TYROBP UBA1 UBE2T UBE4B UCHL1 UFC1 UFD1 UNC80 UPF3B UROD UROS USF3 USH1C USH1G USH2A USP48 USP7 USP8 VAMP1 VANGL1 VANGL2 VARS1 VCL VDR VEGFC VIPAS39 VMA21 VPS11 VPS33A VPS33B VPS37D VPS4A VPS53 VRK1 VWA1 WASHC5 WDR11 WDR19 WDR26 WDR35 WDR4 WDR45B WDR72 WDR73 WHRN WIPI2 WLS WNT10A WNT10B WNT3 WNT4 WNT5A WNT7A WRN WT1 XRCC2 XRCC4 XYLT1 YWHAE YY1 ZBTB20 ZBTB24 ZBTB42 ZBTB7A ZC4H2 ZDHHC9 ZEB1 ZEB2 ZFP57 ZFPM2 ZIC2 ZIC3 ZMPSTE24 ZNF335 ZNF407 ZNF408 ZNF469 ZNF513 ZNF699 ZNHIT3 ZPR1 ZSWIM6

Diseases (1623) :ORPHA:791 ORPHA:758 ORPHA:99885 ORPHA:99886 ORPHA:154 OMIM:239850 ORPHA:1517 OMIM:619719 ORPHA:139396 OMIM:614857 OMIM:612674 OMIM:617602 ORPHA:42 OMIM:201470 OMIM:617762 OMIM:617297 ORPHA:171439 ORPHA:2020 ORPHA:171433 OMIM:255310 OMIM:616852 OMIM:161800 ORPHA:97244 ORPHA:171430 ORPHA:171436 ORPHA:91387 ORPHA:64755 ORPHA:2604 ORPHA:2241 OMIM:182410 OMIM:615688 ORPHA:1901 OMIM:225410 ORPHA:2136 OMIM:231050 ORPHA:51 ORPHA:363528 OMIM:616287 ORPHA:98889 OMIM:616503 ORPHA:231178 ORPHA:404448 ORPHA:536532 OMIM:618000 ORPHA:93 OMIM:208400 ORPHA:90308 ORPHA:528 OMIM:608594 ORPHA:98914 ORPHA:2254 ORPHA:2850 ORPHA:238329 OMIM:300232 OMIM:260600 OMIM:618006 OMIM:240300 ORPHA:201 OMIM:615109 ORPHA:744 OMIM:176920 ORPHA:79085 ORPHA:100924 OMIM:616000 ORPHA:86816 ORPHA:90348 ORPHA:447757 OMIM:616603 OMIM:219150 OMIM:601162 OMIM:620025 ORPHA:816 OMIM:270200 OMIM:608540 ORPHA:280071 ORPHA:79324 OMIM:300884 ORPHA:353327 OMIM:616227 OMIM:619036 OMIM:616228 ORPHA:79321 OMIM:601110 ORPHA:79325 OMIM:608104 ORPHA:79328 OMIM:263210 ORPHA:64 OMIM:146300 OMIM:205100 ORPHA:300605 OMIM:607225 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:616270 OMIM:301200 OMIM:300373 ORPHA:2856 OMIM:261550 OMIM:617607 ORPHA:221008 OMIM:619699 OMIM:118600 ORPHA:1416 OMIM:616681 ORPHA:85408 ORPHA:206549 OMIM:611307 ORPHA:2067 OMIM:230740 OMIM:228600 ORPHA:2176 ORPHA:2028 OMIM:304340 ORPHA:1568 OMIM:600740 OMIM:614066 OMIM:613744 OMIM:614067 OMIM:175100 ORPHA:247806 ORPHA:3258 ORPHA:79665 ORPHA:821 OMIM:300068 ORPHA:95706 ORPHA:98892 ORPHA:1465 OMIM:614607 ORPHA:251056 OMIM:135900 ORPHA:189427 OMIM:617718 OMIM:620141 OMIM:253200 ORPHA:567 ORPHA:2508 OMIM:300004 ORPHA:1934 OMIM:309510 ORPHA:333 OMIM:616867 OMIM:605039 ORPHA:97297 OMIM:615485 ORPHA:3197 OMIM:618011 OMIM:619851 OMIM:619602 OMIM:618120 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 OMIM:617403 OMIM:617402 ORPHA:565 OMIM:304150 ORPHA:198 OMIM:277900 OMIM:604273 OMIM:614564 ORPHA:808 OMIM:210600 ORPHA:847 OMIM:301040 ORPHA:96253 ORPHA:352490 OMIM:615834 ORPHA:99798 OMIM:609465 ORPHA:536467 ORPHA:93359 OMIM:271640 OMIM:245600 ORPHA:709 OMIM:261540 ORPHA:75496 OMIM:130070 OMIM:614175 OMIM:612954 OMIM:614008 ORPHA:904 OMIM:619641 OMIM:617237 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:2712 ORPHA:261330 OMIM:300989 OMIM:607539 ORPHA:3329 ORPHA:363454 OMIM:615290 OMIM:618291 ORPHA:169186 OMIM:255200 ORPHA:125 ORPHA:33110 OMIM:617822 OMIM:614856 OMIM:607932 OMIM:608022 ORPHA:440437 ORPHA:79076 OMIM:614498 ORPHA:84 ORPHA:199 ORPHA:444072 OMIM:617333 OMIM:269700 ORPHA:363400 ORPHA:47 ORPHA:797 OMIM:619985 ORPHA:320370 OMIM:615043 OMIM:130080 ORPHA:75392 OMIM:617174 OMIM:617106 OMIM:620029 OMIM:618285 OMIM:619519 OMIM:614756 ORPHA:1425 ORPHA:267 OMIM:253600 OMIM:618131 OMIM:618891 ORPHA:33364 ORPHA:3261 ORPHA:1606 ORPHA:220393 ORPHA:220402 OMIM:612526 OMIM:606721 OMIM:613327 ORPHA:394 OMIM:236200 ORPHA:1454 OMIM:235510 ORPHA:7 OMIM:300963 OMIM:619123 OMIM:618268 ORPHA:2616 OMIM:182940 OMIM:208230 ORPHA:1159 OMIM:211750 ORPHA:1308 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:2554 ORPHA:99879 ORPHA:99880 ORPHA:143 ORPHA:2268 ORPHA:1299 ORPHA:231169 OMIM:225280 OMIM:617360 OMIM:616342 ORPHA:652 ORPHA:276152 OMIM:130650 ORPHA:397590 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:616300 OMIM:236500 OMIM:615439 OMIM:610687 OMIM:616579 OMIM:254210 ORPHA:276435 OMIM:214800 ORPHA:432 OMIM:614961 ORPHA:233 OMIM:253290 OMIM:608930 OMIM:616313 OMIM:608931 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2953 ORPHA:263463 OMIM:143095 OMIM:613630 ORPHA:435651 OMIM:615238 ORPHA:1545 OMIM:619512 ORPHA:485350 ORPHA:358 OMIM:607626 ORPHA:59303 OMIM:619328 ORPHA:2196 OMIM:248190 ORPHA:1334 ORPHA:324410 ORPHA:2301 OMIM:616271 ORPHA:486 OMIM:217080 ORPHA:1873 OMIM:612540 OMIM:616286 OMIM:618186 OMIM:618266 OMIM:611209 ORPHA:263487 OMIM:614576 ORPHA:363523 OMIM:615328 ORPHA:2021 OMIM:228520 OMIM:215150 ORPHA:610 OMIM:616471 ORPHA:75840 ORPHA:536516 OMIM:616470 OMIM:619787 ORPHA:293381 ORPHA:79402 ORPHA:79406 ORPHA:251393 ORPHA:1899 ORPHA:1310 ORPHA:287 OMIM:619115 OMIM:130060 OMIM:166200 OMIM:259420 OMIM:166220 ORPHA:230851 OMIM:617821 OMIM:225320 ORPHA:1143 OMIM:609162 ORPHA:485 OMIM:156550 OMIM:184250 ORPHA:2500 OMIM:130050 OMIM:618343 ORPHA:286 OMIM:130000 OMIM:619329 OMIM:130010 OMIM:158810 OMIM:254090 OMIM:255600 ORPHA:231568 ORPHA:89842 ORPHA:79408 ORPHA:89843 OMIM:131750 OMIM:226600 ORPHA:79410 ORPHA:79409 ORPHA:79411 OMIM:131705 ORPHA:293843 OMIM:616733 ORPHA:2556 OMIM:309801 ORPHA:280 ORPHA:79273 OMIM:608836 OMIM:618332 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:272430 ORPHA:370980 OMIM:613869 ORPHA:363611 ORPHA:48431 ORPHA:281 ORPHA:678 ORPHA:763 ORPHA:85293 ORPHA:166035 ORPHA:51636 OMIM:233690 OMIM:306400 ORPHA:398189 ORPHA:289157 OMIM:264700 ORPHA:63260 ORPHA:280333 OMIM:613818 ORPHA:137898 OMIM:611105 ORPHA:314679 ORPHA:2148 ORPHA:320380 ORPHA:300536 OMIM:271665 OMIM:618175 ORPHA:2919 OMIM:618653 OMIM:618404 OMIM:192430 OMIM:602398 ORPHA:818 ORPHA:246 OMIM:618733 ORPHA:2849 OMIM:267000 ORPHA:254534 ORPHA:254528 ORPHA:96334 ORPHA:2311 OMIM:104510 ORPHA:3352 ORPHA:98896 OMIM:310200 ORPHA:206546 ORPHA:289176 ORPHA:352470 OMIM:603511 OMIM:617052 OMIM:619858 OMIM:615368 OMIM:160150 ORPHA:404443 OMIM:615879 ORPHA:994 OMIM:608093 ORPHA:86309 ORPHA:459061 OMIM:608799 ORPHA:79322 OMIM:615042 ORPHA:329178 OMIM:615539 ORPHA:158687 OMIM:605594 OMIM:125420 OMIM:125490 OMIM:125500 OMIM:614653 ORPHA:95716 ORPHA:226316 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:223800 ORPHA:93271 ORPHA:268261 ORPHA:464311 OMIM:253601 ORPHA:35173 OMIM:613870 OMIM:615065 ORPHA:530 OMIM:247100 OMIM:617561 ORPHA:3447 ORPHA:90349 OMIM:614437 ORPHA:1520 OMIM:304110 ORPHA:96147 ORPHA:261652 OMIM:619376 ORPHA:2686 ORPHA:3019 OMIM:606893 OMIM:123700 OMIM:194050 OMIM:614457 OMIM:310300 ORPHA:98863 ORPHA:1270 OMIM:619218 OMIM:104500 OMIM:204650 OMIM:615297 ORPHA:353284 OMIM:614257 ORPHA:144 ORPHA:90186 OMIM:607598 OMIM:243180 OMIM:610758 ORPHA:90322 ORPHA:1466 OMIM:610756 OMIM:601675 ORPHA:90321 OMIM:278760 OMIM:610965 OMIM:616570 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:216400 OMIM:208100 ORPHA:401785 ORPHA:209951 ORPHA:280384 OMIM:268300 ORPHA:3103 OMIM:619306 OMIM:619072 OMIM:619076 OMIM:614678 OMIM:619576 OMIM:616081 OMIM:618065 ORPHA:508533 OMIM:277590 ORPHA:169805 ORPHA:169802 ORPHA:1031 OMIM:204690 OMIM:259775 OMIM:130900 ORPHA:3412 OMIM:227645 OMIM:613658 OMIM:616006 OMIM:219100 OMIM:616914 OMIM:154700 ORPHA:284979 ORPHA:2462 ORPHA:2833 OMIM:184900 OMIM:608328 ORPHA:115 OMIM:121050 OMIM:619777 OMIM:618914 OMIM:618324 OMIM:618156 ORPHA:2908 OMIM:305400 ORPHA:915 OMIM:149730 ORPHA:2363 ORPHA:2791 OMIM:613001 ORPHA:2396 ORPHA:3366 OMIM:166250 ORPHA:2645 OMIM:190440 OMIM:207410 ORPHA:1555 OMIM:610474 ORPHA:85164 OMIM:606812 OMIM:300718 OMIM:300717 OMIM:300696 OMIM:300695 OMIM:300280 ORPHA:500095 OMIM:611228 OMIM:618635 ORPHA:2771 OMIM:259450 OMIM:610968 OMIM:614557 ORPHA:300179 ORPHA:370968 OMIM:236670 OMIM:606612 OMIM:607155 ORPHA:272 OMIM:253800 OMIM:611588 ORPHA:122 OMIM:135150 ORPHA:2308 ORPHA:1826 OMIM:305620 ORPHA:2484 OMIM:309350 ORPHA:99811 ORPHA:90652 OMIM:311300 OMIM:304120 OMIM:300244 ORPHA:88630 ORPHA:75497 ORPHA:1263 OMIM:272460 ORPHA:320406 OMIM:153100 ORPHA:79452 OMIM:609033 ORPHA:88628 OMIM:225790 OMIM:619991 OMIM:153400 OMIM:265380 ORPHA:391372 ORPHA:2052 OMIM:248450 OMIM:612938 OMIM:230000 ORPHA:349 OMIM:618005 OMIM:154020 OMIM:612541 OMIM:619124 OMIM:253000 OMIM:211900 OMIM:619042 ORPHA:79277 OMIM:614038 ORPHA:251071 ORPHA:2140 OMIM:600001 ORPHA:2255 ORPHA:85212 ORPHA:77260 OMIM:608013 OMIM:232500 ORPHA:98808 ORPHA:101097 ORPHA:99948 OMIM:607706 OMIM:208530 OMIM:619122 OMIM:200700 ORPHA:3250 ORPHA:565624 OMIM:618397 ORPHA:1010 OMIM:164200 ORPHA:2710 OMIM:257850 ORPHA:93404 OMIM:612474 OMIM:302800 OMIM:602540 OMIM:148210 ORPHA:477 OMIM:613480 ORPHA:79255 OMIM:230500 OMIM:253010 OMIM:611890 OMIM:253310 ORPHA:36 ORPHA:380 OMIM:175700 ORPHA:672 ORPHA:93322 OMIM:610199 OMIM:149400 OMIM:614619 OMIM:610015 OMIM:616835 OMIM:615351 OMIM:145981 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:612462 OMIM:612463 OMIM:619503 OMIM:269921 OMIM:222765 OMIM:252500 ORPHA:576 OMIM:252940 OMIM:619603 ORPHA:2078 OMIM:231070 ORPHA:373 OMIM:312870 ORPHA:93329 OMIM:258315 ORPHA:2570 OMIM:617217 OMIM:616281 OMIM:616029 OMIM:617864 OMIM:616204 OMIM:619814 OMIM:613970 OMIM:618922 OMIM:602471 ORPHA:584 OMIM:253220 OMIM:617537 ORPHA:2128 ORPHA:231144 OMIM:619720 OMIM:619758 OMIM:619950 OMIM:619951 ORPHA:86884 OMIM:618398 ORPHA:98791 ORPHA:1001 ORPHA:226307 ORPHA:309162 OMIM:252930 ORPHA:531 OMIM:616881 ORPHA:324442 OMIM:616977 ORPHA:179 ORPHA:29207 OMIM:106300 OMIM:212750 OMIM:610713 ORPHA:93406 OMIM:186300 OMIM:186000 ORPHA:887 OMIM:619026 ORPHA:217059 OMIM:218040 ORPHA:3071 OMIM:619194 OMIM:612233 ORPHA:1865 ORPHA:800 OMIM:255800 OMIM:309590 OMIM:601492 OMIM:236680 ORPHA:96191 OMIM:616007 OMIM:615330 ORPHA:99646 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 ORPHA:93473 OMIM:607015 ORPHA:93476 ORPHA:805 OMIM:613254 ORPHA:1515 OMIM:218330 OMIM:266920 OMIM:617895 OMIM:270450 OMIM:604320 OMIM:301081 ORPHA:464 OMIM:308300 OMIM:606367 OMIM:618944 OMIM:618523 OMIM:619751 OMIM:617404 OMIM:246200 ORPHA:508 ORPHA:769 ORPHA:60030 OMIM:619472 ORPHA:199302 OMIM:611174 ORPHA:93930 OMIM:613385 ORPHA:228426 ORPHA:79403 ORPHA:158684 OMIM:226730 OMIM:616221 OMIM:619566 ORPHA:3047 OMIM:606170 ORPHA:85201 ORPHA:972 OMIM:135500 OMIM:241200 OMIM:618856 OMIM:170390 OMIM:614098 ORPHA:435628 OMIM:612292 ORPHA:166108 OMIM:618658 OMIM:618846 OMIM:618109 OMIM:300534 ORPHA:85279 ORPHA:2322 OMIM:616546 OMIM:619479 OMIM:619501 ORPHA:2526 OMIM:616258 ORPHA:261323 OMIM:614255 ORPHA:2836 ORPHA:93360 ORPHA:100991 OMIM:615282 OMIM:200990 OMIM:607131 OMIM:609541 OMIM:615348 OMIM:615731 OMIM:617055 ORPHA:399081 OMIM:204700 OMIM:619934 ORPHA:221139 OMIM:613328 ORPHA:2199 ORPHA:79503 ORPHA:79396 ORPHA:89838 OMIM:131760 ORPHA:79400 ORPHA:69087 ORPHA:496689 OMIM:617114 OMIM:307000 ORPHA:2466 ORPHA:2065 ORPHA:258 OMIM:607855 OMIM:618138 OMIM:226700 OMIM:245660 ORPHA:79404 OMIM:620076 OMIM:104530 OMIM:226650 OMIM:613154 OMIM:608840 OMIM:169400 OMIM:618019 OMIM:615758 OMIM:245450 OMIM:619322 ORPHA:1306 OMIM:166700 ORPHA:166119 ORPHA:1879 OMIM:609813 OMIM:617468 OMIM:614462 ORPHA:3206 OMIM:601559 OMIM:616827 ORPHA:435660 OMIM:615980 ORPHA:93405 OMIM:619694 OMIM:246650 ORPHA:79474 ORPHA:98853 ORPHA:98855 ORPHA:280365 ORPHA:157973 OMIM:181350 OMIM:616516 ORPHA:300751 ORPHA:2348 ORPHA:79084 ORPHA:740 OMIM:176670 OMIM:151660 ORPHA:363618 OMIM:212112 OMIM:248370 ORPHA:90153 OMIM:613205 ORPHA:1662 ORPHA:99027 ORPHA:79087 OMIM:608709 OMIM:616165 ORPHA:2614 OMIM:600373 ORPHA:1458 ORPHA:79243 ORPHA:77297 OMIM:609628 ORPHA:79100 OMIM:222448 ORPHA:2143 OMIM:212780 OMIM:619451 OMIM:601216 OMIM:613177 OMIM:605275 ORPHA:1272 OMIM:601088 ORPHA:2774 OMIM:166300 ORPHA:398069 OMIM:615547 OMIM:614202 OMIM:248500 ORPHA:309282 OMIM:617760 OMIM:157800 OMIM:617137 ORPHA:2505 OMIM:257920 ORPHA:2273 OMIM:308205 OMIM:308800 ORPHA:71529 ORPHA:1596 OMIM:620014 OMIM:300055 ORPHA:1762 OMIM:617282 ORPHA:93932 OMIM:301068 OMIM:309520 ORPHA:776 OMIM:300895 OMIM:305450 ORPHA:369891 ORPHA:464738 ORPHA:329967 OMIM:608068 ORPHA:3243 OMIM:614399 ORPHA:65759 OMIM:614976 ORPHA:261190 OMIM:131100 OMIM:620019 ORPHA:99947 OMIM:609260 ORPHA:2398 OMIM:619269 ORPHA:2745 OMIM:300000 OMIM:249000 ORPHA:371428 OMIM:259600 OMIM:612529 OMIM:618774 ORPHA:466768 OMIM:609180 OMIM:619223 OMIM:256810 OMIM:617664 OMIM:301032 ORPHA:502423 OMIM:617675 ORPHA:563609 OMIM:310400 OMIM:616638 ORPHA:320375 OMIM:619127 OMIM:208150 OMIM:614335 ORPHA:1146 OMIM:614915 OMIM:618524 OMIM:619350 OMIM:605637 OMIM:193700 OMIM:618436 OMIM:178110 OMIM:618469 ORPHA:2053 ORPHA:324604 OMIM:158300 OMIM:608837 OMIM:618414 OMIM:619110 OMIM:254940 OMIM:616549 OMIM:618198 OMIM:618975 ORPHA:98911 OMIM:609200 OMIM:618280 ORPHA:508542 OMIM:300855 ORPHA:276432 OMIM:617393 ORPHA:500545 OMIM:616266 ORPHA:371364 OMIM:619091 OMIM:614063 OMIM:618460 OMIM:233700 OMIM:233710 OMIM:142690 ORPHA:551 OMIM:605013 OMIM:619272 OMIM:618237 OMIM:618238 OMIM:619334 ORPHA:399103 OMIM:256030 ORPHA:3253 OMIM:613573 OMIM:617201 ORPHA:101085 OMIM:607684 OMIM:614262 OMIM:617022 ORPHA:93400 ORPHA:93399 OMIM:256550 ORPHA:812 ORPHA:139474 OMIM:613735 OMIM:602535 ORPHA:404454 OMIM:122470 OMIM:301039 ORPHA:95712 OMIM:613330 OMIM:618803 ORPHA:575 OMIM:608553 ORPHA:90340 OMIM:186580 OMIM:616028 OMIM:102500 ORPHA:955 ORPHA:2591 OMIM:130720 ORPHA:2789 OMIM:267010 ORPHA:1344 OMIM:615745 OMIM:618901 OMIM:619833 OMIM:308050 OMIM:620001 OMIM:611091 ORPHA:320396 OMIM:613162 ORPHA:642 OMIM:256800 OMIM:618349 OMIM:618804 OMIM:618393 ORPHA:1507 OMIM:618529 OMIM:251290 OMIM:300555 OMIM:309000 ORPHA:534 OMIM:614832 ORPHA:544488 OMIM:311200 ORPHA:2750 OMIM:300209 OMIM:210000 OMIM:612782 OMIM:615883 OMIM:224690 OMIM:613800 OMIM:617729 OMIM:301056 ORPHA:505237 OMIM:617452 OMIM:617099 OMIM:610915 ORPHA:2050 OMIM:112240 OMIM:618493 ORPHA:329224 ORPHA:217385 OMIM:618458 ORPHA:1529 ORPHA:896 OMIM:148820 OMIM:618578 OMIM:218700 OMIM:617641 OMIM:615919 ORPHA:438134 OMIM:210720 ORPHA:71528 ORPHA:1359 ORPHA:189439 ORPHA:439822 OMIM:601812 OMIM:619208 ORPHA:3220 OMIM:234580 OMIM:614866 OMIM:214110 OMIM:616716 OMIM:616617 OMIM:215100 OMIM:615802 OMIM:618298 OMIM:307800 ORPHA:89936 ORPHA:127 ORPHA:79351 OMIM:256520 ORPHA:436252 OMIM:619708 OMIM:616531 OMIM:619621 OMIM:616843 OMIM:114300 OMIM:108145 OMIM:617146 ORPHA:1154 ORPHA:376 ORPHA:2461 OMIM:248700 OMIM:300868 OMIM:301072 OMIM:280000 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:617599 OMIM:618548 OMIM:618143 OMIM:616809 ORPHA:557003 OMIM:618440 OMIM:612918 OMIM:615108 ORPHA:276280 OMIM:602501 OMIM:615513 ORPHA:3163 OMIM:269880 OMIM:603387 OMIM:611369 OMIM:186550 ORPHA:158668 ORPHA:35069 OMIM:617527 ORPHA:521426 OMIM:614878 OMIM:212093 ORPHA:257 OMIM:226670 OMIM:612138 OMIM:613723 ORPHA:254361 OMIM:611067 OMIM:613877 ORPHA:280356 OMIM:225400 ORPHA:1900 OMIM:609220 OMIM:612394 OMIM:312920 ORPHA:570 OMIM:212065 ORPHA:79318 ORPHA:90658 ORPHA:319514 OMIM:616364 ORPHA:468678 OMIM:301220 OMIM:615381 ORPHA:861 OMIM:618603 ORPHA:3455 OMIM:264090 OMIM:619234 ORPHA:71526 OMIM:615249 OMIM:618048 OMIM:613155 OMIM:609308 OMIM:613150 OMIM:613156 OMIM:617396 OMIM:201750 ORPHA:95699 ORPHA:2092 OMIM:305600 OMIM:604367 ORPHA:79083 OMIM:259440 OMIM:617450 ORPHA:79473 OMIM:618820 ORPHA:391408 OMIM:619383 OMIM:618354 ORPHA:457284 OMIM:618419 ORPHA:457279 OMIM:618265 OMIM:256730 OMIM:309500 OMIM:616488 ORPHA:90354 OMIM:614170 OMIM:208250 ORPHA:2848 OMIM:620005 OMIM:615830 OMIM:619636 OMIM:619539 OMIM:617481 ORPHA:284417 OMIM:617591 OMIM:256040 OMIM:619183 OMIM:604416 OMIM:610828 ORPHA:77301 OMIM:151050 ORPHA:2658 ORPHA:109 OMIM:158350 ORPHA:2969 OMIM:609069 OMIM:156400 ORPHA:456312 OMIM:616263 ORPHA:508488 OMIM:612940 OMIM:614438 ORPHA:481152 OMIM:617258 OMIM:614222 OMIM:201000 OMIM:619420 OMIM:212720 OMIM:614225 OMIM:617751 ORPHA:500159 OMIM:618986 OMIM:614701 OMIM:618388 OMIM:616326 ORPHA:2470 OMIM:615524 OMIM:611523 OMIM:612079 ORPHA:157954 ORPHA:221016 OMIM:620011 OMIM:618386 ORPHA:504476 ORPHA:244310 OMIM:618727 OMIM:618761 OMIM:613075 ORPHA:217335 OMIM:263650 OMIM:300978 OMIM:607095 OMIM:618379 ORPHA:544503 OMIM:619460 OMIM:226960 OMIM:210710 OMIM:616651 ORPHA:353298 ORPHA:1946 OMIM:226750 OMIM:113000 OMIM:268310 OMIM:300998 ORPHA:459070 ORPHA:435938 OMIM:613309 OMIM:606164 OMIM:303600 OMIM:618022 ORPHA:468631 OMIM:614833 OMIM:119600 ORPHA:1452 ORPHA:597 OMIM:117000 ORPHA:98905 ORPHA:424107 OMIM:255320 OMIM:107480 OMIM:612952 OMIM:619229 OMIM:612313 OMIM:600920 ORPHA:682 OMIM:619184 OMIM:618766 ORPHA:3208 OMIM:252011 OMIM:619224 OMIM:616294 OMIM:618651 OMIM:602771 OMIM:613811 OMIM:613848 OMIM:618106 ORPHA:798 OMIM:154400 ORPHA:62 OMIM:608099 ORPHA:353 OMIM:253700 OMIM:252900 ORPHA:261197 OMIM:118400 ORPHA:137834 OMIM:249420 ORPHA:48652 OMIM:606232 OMIM:607721 ORPHA:440713 OMIM:618162 OMIM:248800 ORPHA:94065 OMIM:613406 OMIM:182212 ORPHA:84064 OMIM:618363 OMIM:601678 OMIM:263800 OMIM:620068 OMIM:218000 OMIM:615905 ORPHA:59 OMIM:300523 OMIM:617239 OMIM:617105 OMIM:616657 ORPHA:447997 OMIM:615887 OMIM:607196 OMIM:613710 OMIM:612289 ORPHA:2095 ORPHA:2963 OMIM:615418 OMIM:616505 OMIM:619303 ORPHA:93298 OMIM:600972 ORPHA:56304 ORPHA:628 OMIM:222600 ORPHA:93307 ORPHA:1782 ORPHA:168569 OMIM:602782 OMIM:208050 ORPHA:3342 OMIM:227810 ORPHA:238459 OMIM:300896 ORPHA:356961 OMIM:615553 OMIM:266265 ORPHA:99843 OMIM:269250 OMIM:619525 OMIM:612350 ORPHA:157965 ORPHA:521406 OMIM:617013 ORPHA:468699 OMIM:274400 OMIM:619903 OMIM:617143 OMIM:614618 OMIM:617301 ORPHA:85278 OMIM:300243 ORPHA:87503 ORPHA:284984 OMIM:613795 ORPHA:2588 OMIM:139210 OMIM:619293 OMIM:601358 ORPHA:3051 ORPHA:1658 OMIM:129200 OMIM:614608 OMIM:617475 OMIM:301044 OMIM:603457 ORPHA:2250 OMIM:616920 OMIM:206920 ORPHA:1106 OMIM:125400 OMIM:618622 ORPHA:3063 OMIM:616330 OMIM:614501 OMIM:117650 ORPHA:397709 OMIM:616354 OMIM:617140 OMIM:609136 ORPHA:163746 OMIM:137940 OMIM:618971 OMIM:114290 OMIM:620104 OMIM:275900 OMIM:145420 ORPHA:1519 OMIM:615959 OMIM:616668 ORPHA:137605 OMIM:611431 OMIM:616200 OMIM:617519 OMIM:136140 OMIM:612713 OMIM:255995 ORPHA:168572 OMIM:301022 ORPHA:2314 OMIM:612783 OMIM:160565 OMIM:601186 ORPHA:17 OMIM:618786 OMIM:619040 OMIM:618484 ORPHA:319332 ORPHA:522077 OMIM:619461 ORPHA:480907 OMIM:616897 OMIM:618950 OMIM:615663 OMIM:619323 ORPHA:496641 OMIM:617193 ORPHA:2323 ORPHA:487825 ORPHA:1617 OMIM:188400 OMIM:260660 ORPHA:93333 ORPHA:3138 OMIM:181450 ORPHA:261279 OMIM:601954 ORPHA:2896 OMIM:614815 ORPHA:2753 ORPHA:488642 OMIM:617952 ORPHA:1297 OMIM:113620 OMIM:301066 ORPHA:1388 OMIM:616145 ORPHA:1328 OMIM:131300 OMIM:614816 OMIM:615582 OMIM:602082 ORPHA:98964 OMIM:609192 OMIM:610168 ORPHA:100976 OMIM:242300 ORPHA:363444 OMIM:614450 OMIM:618050 ORPHA:1394 OMIM:213980 OMIM:617562 OMIM:617563 OMIM:614727 OMIM:603194 OMIM:619562 OMIM:619470 OMIM:614052 ORPHA:1194 OMIM:618316 OMIM:239000 ORPHA:32960 OMIM:601680 ORPHA:98902 OMIM:605355 OMIM:618435 OMIM:608423 OMIM:619243 OMIM:606408 OMIM:618097 OMIM:618947 OMIM:128100 OMIM:617072 ORPHA:1896 OMIM:603543 OMIM:129400 OMIM:108120 OMIM:609285 OMIM:609284 OMIM:618164 OMIM:616777 OMIM:618201 ORPHA:2770 OMIM:615490 OMIM:253250 ORPHA:93299 ORPHA:166272 OMIM:184260 OMIM:617598 ORPHA:486815 OMIM:616866 OMIM:616033 ORPHA:2596 ORPHA:1349 ORPHA:77258 OMIM:614594 ORPHA:2635 OMIM:156530 OMIM:168400 OMIM:600175 OMIM:184252 ORPHA:93314 OMIM:618454 ORPHA:538 OMIM:191100 ORPHA:166063 OMIM:225753 OMIM:275100 ORPHA:90674 ORPHA:90673 OMIM:619534 OMIM:243150 OMIM:603689 OMIM:611705 OMIM:600638 ORPHA:920 OMIM:200110 OMIM:209885 OMIM:608572 ORPHA:1145 OMIM:301830 OMIM:615491 OMIM:618076 OMIM:616801 ORPHA:95159 OMIM:263700 ORPHA:500055 OMIM:618323 OMIM:600145 OMIM:617802 ORPHA:93160 OMIM:277440 OMIM:615907 OMIM:613404 OMIM:310440 OMIM:616683 ORPHA:466934 ORPHA:505248 OMIM:617303 OMIM:208085 OMIM:619273 OMIM:615851 OMIM:607596 OMIM:619216 OMIM:614376 ORPHA:513456 OMIM:613610 OMIM:618346 OMIM:617977 OMIM:613211 OMIM:251300 OMIM:618453 OMIM:619648 OMIM:273395 OMIM:611812 ORPHA:139466 OMIM:276820 ORPHA:902 OMIM:194080 ORPHA:3097 OMIM:608978 OMIM:616541 OMIM:617557 ORPHA:506358 ORPHA:3042 OMIM:259050 OMIM:616248 OMIM:619769 ORPHA:3454 OMIM:314580 OMIM:301041 OMIM:300799 OMIM:609141 ORPHA:261552 ORPHA:261537 OMIM:610187 OMIM:306955 ORPHA:90154 OMIM:608612 OMIM:275210 OMIM:615095 OMIM:619557 OMIM:229200 OMIM:619488 OMIM:619321 OMIM:603671 ORPHA:1827

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

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