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:
Joint dislocation (HP:0001373)

Parent Node:
Abnormal hip joint morphology (HP:0001384)

Parent Node:
Lower extremity joint dislocation (HP:0030311)

..Starting node
..Hip dislocation (HP:0002827)

Term ID:

2827

Name:

Hip dislocation

Synonym:

Dislocated hips; Dislocation of hip; Hip dislocation

Definition:

Displacement of the femur from its normal location in the hip joint.

Comments:

Reference:

HP:0002827

Genes and Diseases:

Child Nodes:

........

Congenital hip dislocation (HP:0001374)

................... HP:0008780 Congenital bilateral hip dislocation

Sister Nodes:

Dislocation of the femoral head (HP:0008826)

Dislocation of toes (HP:0008141)

Knee dislocation (HP:0004976)

Patellar dislocation (HP:0002999)

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:0002827	HP:0002827	Hip dislocation	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.	HP:0003577 - Congenital onset
HP:0002827	HP:0002827	Hip dislocation	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0002827	HP:0002827	Hip dislocation	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0002827	HP:0002827	Hip dislocation	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0002827	HP:0002827	Hip dislocation	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0002827	HP:0002827	Hip dislocation	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0002827	HP:0002827	Hip dislocation	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0002827	HP:0002827	Hip dislocation	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0002827	HP:0002827	Hip dislocation	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0002827	HP:0002827	Hip dislocation	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0002827	HP:0002827	Hip dislocation	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0002827	HP:0002827	Hip dislocation	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0002827	HP:0002827	Hip dislocation	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0002827	HP:0002827	Hip dislocation	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.		89
HP:0002827	HP:0002827	Hip dislocation	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0002827	HP:0002827	Hip dislocation	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0002827	HP:0002827	Hip dislocation	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		3179
HP:0002827	HP:0002827	Hip dislocation	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0002827	HP:0002827	Hip dislocation	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional
HP:0002827	HP:0002827	Hip dislocation	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0002827	HP:0002827	Hip dislocation	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0002827	HP:0002827	Hip dislocation	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0002827	HP:0002827	Hip dislocation	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0002827	HP:0002827	Hip dislocation	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0002827	HP:0002827	Hip dislocation	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0002827	HP:0002827	Hip dislocation	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0002827	HP:0002827	Hip dislocation	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0002827	HP:0002827	Hip dislocation	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0002827	HP:0002827	Hip dislocation	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.		38
HP:0002827	HP:0002827	Hip dislocation	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		38
HP:0002827	HP:0002827	Hip dislocation	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0002827	HP:0002827	Hip dislocation	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:0002827	HP:0002827	Hip dislocation	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0002827	HP:0002827	Hip dislocation	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0002827	HP:0002827	Hip dislocation	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0002827	HP:0002827	Hip dislocation	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0002827	HP:0002827	Hip dislocation	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0002827	HP:0002827	Hip dislocation	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.		13
HP:0002827	HP:0002827	Hip dislocation	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0002827	HP:0002827	Hip dislocation	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0002827	HP:0002827	Hip dislocation	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0002827	HP:0002827	Hip dislocation	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0002827	HP:0002827	Hip dislocation	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0002827	HP:0002827	Hip dislocation	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		200
HP:0002827	HP:0002827	Hip dislocation	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0002827	HP:0002827	Hip dislocation	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0002827	HP:0002827	Hip dislocation	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0002827	HP:0002827	Hip dislocation	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0002827	HP:0002827	Hip dislocation	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome			4
HP:0002827	HP:0002827	Hip dislocation	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0002827	HP:0002827	Hip dislocation	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0002827	HP:0002827	Hip dislocation	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:0002827	HP:0002827	Hip dislocation	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0002827	HP:0002827	Hip dislocation	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0002827	HP:0002827	Hip dislocation	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0002827	HP:0002827	Hip dislocation	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0002827	HP:0002827	Hip dislocation	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0002827	HP:0002827	Hip dislocation	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0002827	HP:0002827	Hip dislocation	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0002827	HP:0002827	Hip dislocation	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0002827	HP:0002827	Hip dislocation	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0002827	HP:0002827	Hip dislocation	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		243
HP:0002827	HP:0002827	Hip dislocation	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.		243
HP:0002827	HP:0002827	Hip dislocation	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0002827	HP:0002827	Hip dislocation	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0002827	HP:0002827	Hip dislocation	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.		284
HP:0002827	HP:0002827	Hip dislocation	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0002827	HP:0002827	Hip dislocation	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0002827	HP:0002827	Hip dislocation	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0002827	HP:0002827	Hip dislocation	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0002827	HP:0002827	Hip dislocation	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0002827	HP:0002827	Hip dislocation	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0002827	HP:0002827	Hip dislocation	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0002827	HP:0002827	Hip dislocation	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0002827	HP:0002827	Hip dislocation	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0002827	HP:0002827	Hip dislocation	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0002827	HP:0002827	Hip dislocation	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional		3
HP:0002827	HP:0002827	Hip dislocation	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional		9
HP:0002827	HP:0002827	Hip dislocation	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.		9
HP:0002827	HP:0002827	Hip dislocation	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002827	HP:0002827	Hip dislocation	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0002827	HP:0002827	Hip dislocation	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0002827	HP:0002827	Hip dislocation	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.		127
HP:0002827	HP:0002827	Hip dislocation	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0002827	HP:0002827	Hip dislocation	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.		159
HP:0002827	HP:0002827	Hip dislocation	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0002827	HP:0002827	Hip dislocation	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0002827	HP:0002827	Hip dislocation	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0002827	HP:0002827	Hip dislocation	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0002827	HP:0002827	Hip dislocation	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		22
HP:0002827	HP:0002827	Hip dislocation	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0002827	HP:0002827	Hip dislocation	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0002827	HP:0002827	Hip dislocation	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0002827	HP:0002827	Hip dislocation	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		3
HP:0002827	HP:0002827	Hip dislocation	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0002827	HP:0002827	Hip dislocation	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0002827	HP:0002827	Hip dislocation	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002827	HP:0002827	Hip dislocation	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040283 - Occasional		13
HP:0002827	HP:0002827	Hip dislocation	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0002827	HP:0002827	Hip dislocation	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0002827	HP:0002827	Hip dislocation	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0002827	HP:0002827	Hip dislocation	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	HP:0040283 - Occasional		37
HP:0002827	HP:0002827	Hip dislocation	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional		45
HP:0002827	HP:0002827	Hip dislocation	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0002827	HP:0002827	Hip dislocation	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	HP:0040283 - Occasional		4
HP:0002827	HP:0002827	Hip dislocation	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0002827	HP:0002827	Hip dislocation	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0002827	HP:0002827	Hip dislocation	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0002827	HP:0002827	Hip dislocation	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002827	HP:0002827	Hip dislocation	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		3
HP:0002827	HP:0002827	Hip dislocation	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.		3
HP:0002827	HP:0002827	Hip dislocation	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0002827	HP:0002827	Hip dislocation	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0002827	HP:0002827	Hip dislocation	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0002827	HP:0002827	Hip dislocation	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0002827	HP:0002827	Hip dislocation	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional		58
HP:0002827	HP:0002827	Hip dislocation	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0002827	HP:0002827	Hip dislocation	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0002827	HP:0002827	Hip dislocation	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0002827	HP:0002827	Hip dislocation	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0002827	HP:0002827	Hip dislocation	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0002827	HP:0002827	Hip dislocation	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0002827	HP:0002827	Hip dislocation	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0002827	HP:0002827	Hip dislocation	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0002827	HP:0002827	Hip dislocation	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0002827	HP:0002827	Hip dislocation	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0002827	HP:0002827	Hip dislocation	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional		63
HP:0002827	HP:0002827	Hip dislocation	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0002827	HP:0002827	Hip dislocation	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0002827	HP:0002827	Hip dislocation	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		17
HP:0002827	HP:0002827	Hip dislocation	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0002827	HP:0002827	Hip dislocation	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0002827	HP:0002827	Hip dislocation	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0002827	HP:0002827	Hip dislocation	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0002827	HP:0002827	Hip dislocation	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0002827	HP:0002827	Hip dislocation	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0002827	HP:0002827	Hip dislocation	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0002827	HP:0002827	Hip dislocation	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0002827	HP:0002827	Hip dislocation	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional		8
HP:0002827	HP:0002827	Hip dislocation	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent		493
HP:0002827	HP:0002827	Hip dislocation	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0002827	HP:0002827	Hip dislocation	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0002827	HP:0002827	Hip dislocation	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0002827	HP:0002827	Hip dislocation	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040282 - Frequent		233
HP:0002827	HP:0002827	Hip dislocation	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0002827	HP:0002827	Hip dislocation	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0002827	HP:0002827	Hip dislocation	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0002827	HP:0002827	Hip dislocation	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		48
HP:0002827	HP:0002827	Hip dislocation	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0002827	HP:0002827	Hip dislocation	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0002827	HP:0002827	Hip dislocation	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0002827	HP:0002827	Hip dislocation	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0002827	HP:0002827	Hip dislocation	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0002827	HP:0002827	Hip dislocation	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		2
HP:0002827	HP:0002827	Hip dislocation	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0002827	HP:0002827	Hip dislocation	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040282 - Frequent		52
HP:0002827	HP:0002827	Hip dislocation	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.		52
HP:0002827	HP:0002827	Hip dislocation	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0002827	HP:0002827	Hip dislocation	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0002827	HP:0002827	Hip dislocation	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0002827	HP:0002827	Hip dislocation	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0002827	HP:0002827	Hip dislocation	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		173
HP:0002827	HP:0002827	Hip dislocation	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0002827	HP:0002827	Hip dislocation	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent		270
HP:0002827	HP:0002827	Hip dislocation	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.		270
HP:0002827	HP:0002827	Hip dislocation	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040284 - Very rare		270
HP:0002827	HP:0002827	Hip dislocation	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional		63
HP:0002827	HP:0002827	Hip dislocation	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.		63
HP:0002827	HP:0002827	Hip dislocation	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional		46
HP:0002827	HP:0002827	Hip dislocation	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0002827	HP:0002827	Hip dislocation	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0002827	HP:0002827	Hip dislocation	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0002827	HP:0002827	Hip dislocation	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040282 - Frequent		52
HP:0002827	HP:0002827	Hip dislocation	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0002827	HP:0002827	Hip dislocation	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002827	HP:0002827	Hip dislocation	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional		18
HP:0002827	HP:0002827	Hip dislocation	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.		18
HP:0002827	HP:0002827	Hip dislocation	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0002827	HP:0002827	Hip dislocation	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002827	HP:0002827	Hip dislocation	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional		10
HP:0002827	HP:0002827	Hip dislocation	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0002827	HP:0002827	Hip dislocation	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0002827	HP:0002827	Hip dislocation	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0002827	HP:0002827	Hip dislocation	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0002827	HP:0002827	Hip dislocation	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0002827	HP:0002827	Hip dislocation	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.		3
HP:0002827	HP:0002827	Hip dislocation	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0002827	HP:0002827	Hip dislocation	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0002827	HP:0002827	Hip dislocation	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0002827	HP:0002827	Hip dislocation	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0002827	HP:0002827	Hip dislocation	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0002827	HP:0002827	Hip dislocation	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0002827	HP:0002827	Hip dislocation	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent		7
HP:0002827	HP:0002827	Hip dislocation	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002827	HP:0002827	Hip dislocation	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0002827	HP:0002827	Hip dislocation	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0002827	HP:0002827	Hip dislocation	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0002827	HP:0002827	Hip dislocation	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		53
HP:0002827	HP:0002827	Hip dislocation	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0002827	HP:0002827	Hip dislocation	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0002827	HP:0002827	Hip dislocation	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2			14
HP:0002827	HP:0002827	Hip dislocation	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0002827	HP:0002827	Hip dislocation	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0002827	HP:0002827	Hip dislocation	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		660
HP:0002827	HP:0002827	Hip dislocation	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0002827	HP:0002827	Hip dislocation	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0002827	HP:0002827	Hip dislocation	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0002827	HP:0002827	Hip dislocation	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0002827	HP:0002827	Hip dislocation	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0002827	HP:0002827	Hip dislocation	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0002827	HP:0002827	Hip dislocation	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0002827	HP:0002827	Hip dislocation	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		124
HP:0002827	HP:0002827	Hip dislocation	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0002827	HP:0002827	Hip dislocation	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0002827	HP:0002827	Hip dislocation	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0002827	HP:0002827	Hip dislocation	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0002827	HP:0002827	Hip dislocation	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0002827	HP:0002827	Hip dislocation	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0002827	HP:0002827	Hip dislocation	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0002827	HP:0002827	Hip dislocation	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional		21
HP:0002827	HP:0002827	Hip dislocation	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	HP:0040283 - Occasional		22
HP:0002827	HP:0002827	Hip dislocation	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0002827	HP:0002827	Hip dislocation	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome			69
HP:0002827	HP:0002827	Hip dislocation	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0002827	HP:0002827	Hip dislocation	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0002827	HP:0002827	Hip dislocation	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.		93
HP:0002827	HP:0002827	Hip dislocation	0	MYH8 CL E G H	4626	7578	ORPHA:3377	Trismus-pseudocamptodactyly syndrome	HP:0040283 - Occasional		93
HP:0002827	HP:0002827	Hip dislocation	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0002827	HP:0002827	Hip dislocation	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0002827	HP:0002827	Hip dislocation	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002827	HP:0002827	Hip dislocation	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0002827	HP:0002827	Hip dislocation	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0002827	HP:0002827	Hip dislocation	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002827	HP:0002827	Hip dislocation	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0002827	HP:0002827	Hip dislocation	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0002827	HP:0002827	Hip dislocation	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0002827	HP:0002827	Hip dislocation	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0002827	HP:0002827	Hip dislocation	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		45
HP:0002827	HP:0002827	Hip dislocation	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0002827	HP:0002827	Hip dislocation	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0002827	HP:0002827	Hip dislocation	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0002827	HP:0002827	Hip dislocation	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0002827	HP:0002827	Hip dislocation	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0002827	HP:0002827	Hip dislocation	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0002827	HP:0002827	Hip dislocation	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0002827	HP:0002827	Hip dislocation	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0002827	HP:0002827	Hip dislocation	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0002827	HP:0002827	Hip dislocation	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0002827	HP:0002827	Hip dislocation	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0002827	HP:0002827	Hip dislocation	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional		36
HP:0002827	HP:0002827	Hip dislocation	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0002827	HP:0002827	Hip dislocation	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0002827	HP:0002827	Hip dislocation	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040282 - Frequent		105
HP:0002827	HP:0002827	Hip dislocation	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0002827	HP:0002827	Hip dislocation	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0002827	HP:0002827	Hip dislocation	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0002827	HP:0002827	Hip dislocation	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0002827	HP:0002827	Hip dislocation	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0002827	HP:0002827	Hip dislocation	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0002827	HP:0002827	Hip dislocation	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0002827	HP:0002827	Hip dislocation	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0002827	HP:0002827	Hip dislocation	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0002827	HP:0002827	Hip dislocation	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		665
HP:0002827	HP:0002827	Hip dislocation	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0002827	HP:0002827	Hip dislocation	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0002827	HP:0002827	Hip dislocation	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0002827	HP:0002827	Hip dislocation	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0002827	HP:0002827	Hip dislocation	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0002827	HP:0002827	Hip dislocation	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0002827	HP:0002827	Hip dislocation	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.		19
HP:0002827	HP:0002827	Hip dislocation	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0002827	HP:0002827	Hip dislocation	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0002827	HP:0002827	Hip dislocation	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040282 - Frequent		53
HP:0002827	HP:0002827	Hip dislocation	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0002827	HP:0002827	Hip dislocation	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0002827	HP:0002827	Hip dislocation	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0002827	HP:0002827	Hip dislocation	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0002827	HP:0002827	Hip dislocation	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002827	HP:0002827	Hip dislocation	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent		10
HP:0002827	HP:0002827	Hip dislocation	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0002827	HP:0002827	Hip dislocation	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0002827	HP:0002827	Hip dislocation	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0002827	HP:0002827	Hip dislocation	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0002827	HP:0002827	Hip dislocation	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0002827	HP:0002827	Hip dislocation	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0002827	HP:0002827	Hip dislocation	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0002827	HP:0002827	Hip dislocation	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0002827	HP:0002827	Hip dislocation	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002827	HP:0002827	Hip dislocation	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0002827	HP:0002827	Hip dislocation	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0002827	HP:0002827	Hip dislocation	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0002827	HP:0002827	Hip dislocation	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0002827	HP:0002827	Hip dislocation	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0002827	HP:0002827	Hip dislocation	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0002827	HP:0002827	Hip dislocation	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		67
HP:0002827	HP:0002827	Hip dislocation	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0002827	HP:0002827	Hip dislocation	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0002827	HP:0002827	Hip dislocation	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent		67
HP:0002827	HP:0002827	Hip dislocation	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0002827	HP:0002827	Hip dislocation	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002827	HP:0002827	Hip dislocation	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002827	HP:0002827	Hip dislocation	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0002827	HP:0002827	Hip dislocation	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002827	HP:0002827	Hip dislocation	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0002827	HP:0002827	Hip dislocation	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002827	HP:0002827	Hip dislocation	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0002827	HP:0002827	Hip dislocation	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0002827	HP:0002827	Hip dislocation	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0002827	HP:0002827	Hip dislocation	0	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	HP:0040283 - Occasional		2
HP:0002827	HP:0002827	Hip dislocation	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0002827	HP:0002827	Hip dislocation	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional		81
HP:0002827	HP:0002827	Hip dislocation	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0002827	HP:0002827	Hip dislocation	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0002827	HP:0002827	Hip dislocation	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0002827	HP:0002827	Hip dislocation	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		135
HP:0002827	HP:0002827	Hip dislocation	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0002827	HP:0002827	Hip dislocation	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.		22
HP:0002827	HP:0002827	Hip dislocation	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional		15
HP:0002827	HP:0002827	Hip dislocation	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0002827	HP:0002827	Hip dislocation	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002827	HP:0002827	Hip dislocation	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0002827	HP:0002827	Hip dislocation	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent		109
HP:0002827	HP:0002827	Hip dislocation	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0002827	HP:0002827	Hip dislocation	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002827	HP:0002827	Hip dislocation	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002827	HP:0002827	Hip dislocation	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0002827	HP:0002827	Hip dislocation	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0002827	HP:0002827	Hip dislocation	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		99
HP:0002827	HP:0002827	Hip dislocation	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0002827	HP:0002827	Hip dislocation	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0002827	HP:0002827	Hip dislocation	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0002827	HP:0002827	Hip dislocation	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0002827	HP:0002827	Hip dislocation	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002827	HP:0002827	Hip dislocation	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002827	HP:0002827	Hip dislocation	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		1
HP:0002827	HP:0002827	Hip dislocation	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002827	HP:0002827	Hip dislocation	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0002827	HP:0002827	Hip dislocation	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002827	HP:0002827	Hip dislocation	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002827	HP:0002827	Hip dislocation	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002827	HP:0002827	Hip dislocation	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0002827	HP:0002827	Hip dislocation	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002827	HP:0002827	Hip dislocation	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0002827	HP:0002827	Hip dislocation	0	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2	.		43
HP:0002827	HP:0002827	Hip dislocation	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002827	HP:0002827	Hip dislocation	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0002827	HP:0002827	Hip dislocation	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0002827	HP:0002827	Hip dislocation	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0002827	HP:0002827	Hip dislocation	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0002827	HP:0002827	Hip dislocation	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0002827	HP:0002827	Hip dislocation	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0002827	HP:0002827	Hip dislocation	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0002827	HP:0002827	Hip dislocation	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0002827	HP:0002827	Hip dislocation	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0002827	HP:0002827	Hip dislocation	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0002827	HP:0002827	Hip dislocation	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0002827	HP:0002827	Hip dislocation	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0002827	HP:0002827	Hip dislocation	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0002827	HP:0002827	Hip dislocation	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0002827	HP:0002827	Hip dislocation	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0002827	HP:0002827	Hip dislocation	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0002827	HP:0002827	Hip dislocation	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0002827	HP:0002827	Hip dislocation	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0002827	HP:0002827	Hip dislocation	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0002827	HP:0002827	Hip dislocation	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0002827	HP:0002827	Hip dislocation	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0002827	HP:0002827	Hip dislocation	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0002827	HP:0002827	Hip dislocation	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0002827	HP:0002827	Hip dislocation	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0002827	HP:0002827	Hip dislocation	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0002827	HP:0002827	Hip dislocation	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		34
HP:0002827	HP:0002827	Hip dislocation	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0002827	HP:0002827	Hip dislocation	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002827	HP:0002827	Hip dislocation	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0002827	HP:0002827	Hip dislocation	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0002827	HP:0001374	Congenital hip dislocation	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0002827	HP:0001374	Congenital hip dislocation	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0002827	HP:0001374	Congenital hip dislocation	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0002827	HP:0001374	Congenital hip dislocation	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0002827	HP:0001374	Congenital hip dislocation	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0002827	HP:0001374	Congenital hip dislocation	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent		140
HP:0002827	HP:0001374	Congenital hip dislocation	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0002827	HP:0001374	Congenital hip dislocation	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0002827	HP:0001374	Congenital hip dislocation	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0002827	HP:0001374	Congenital hip dislocation	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent		3
HP:0002827	HP:0001374	Congenital hip dislocation	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent		2
HP:0002827	HP:0001374	Congenital hip dislocation	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0002827	HP:0001374	Congenital hip dislocation	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040283 - Occasional		5
HP:0002827	HP:0001374	Congenital hip dislocation	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0002827	HP:0001374	Congenital hip dislocation	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional		4
HP:0002827	HP:0001374	Congenital hip dislocation	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.		4
HP:0002827	HP:0001374	Congenital hip dislocation	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0002827	HP:0001374	Congenital hip dislocation	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0002827	HP:0001374	Congenital hip dislocation	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0002827	HP:0001374	Congenital hip dislocation	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0002827	HP:0001374	Congenital hip dislocation	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0002827	HP:0001374	Congenital hip dislocation	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0002827	HP:0001374	Congenital hip dislocation	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0002827	HP:0001374	Congenital hip dislocation	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040283 - Occasional		127
HP:0002827	HP:0001374	Congenital hip dislocation	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.		59
HP:0002827	HP:0001374	Congenital hip dislocation	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0002827	HP:0001374	Congenital hip dislocation	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0002827	HP:0001374	Congenital hip dislocation	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.		135
HP:0002827	HP:0001374	Congenital hip dislocation	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0002827	HP:0001374	Congenital hip dislocation	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0002827	HP:0001374	Congenital hip dislocation	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0002827	HP:0001374	Congenital hip dislocation	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0002827	HP:0001374	Congenital hip dislocation	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0002827	HP:0001374	Congenital hip dislocation	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0002827	HP:0001374	Congenital hip dislocation	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0002827	HP:0001374	Congenital hip dislocation	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002827	HP:0001374	Congenital hip dislocation	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0002827	HP:0001374	Congenital hip dislocation	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0002827	HP:0001374	Congenital hip dislocation	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0002827	HP:0001374	Congenital hip dislocation	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0002827	HP:0001374	Congenital hip dislocation	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0002827	HP:0001374	Congenital hip dislocation	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0002827	HP:0001374	Congenital hip dislocation	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.		14
HP:0002827	HP:0001374	Congenital hip dislocation	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0002827	HP:0001374	Congenital hip dislocation	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.		8
HP:0002827	HP:0001374	Congenital hip dislocation	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040282 - Frequent		8
HP:0002827	HP:0001374	Congenital hip dislocation	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0002827	HP:0001374	Congenital hip dislocation	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0002827	HP:0001374	Congenital hip dislocation	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.		69
HP:0002827	HP:0001374	Congenital hip dislocation	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0002827	HP:0001374	Congenital hip dislocation	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0002827	HP:0001374	Congenital hip dislocation	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0002827	HP:0001374	Congenital hip dislocation	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002827	HP:0001374	Congenital hip dislocation	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0002827	HP:0001374	Congenital hip dislocation	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0002827	HP:0001374	Congenital hip dislocation	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040283 - Occasional		143
HP:0002827	HP:0001374	Congenital hip dislocation	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0002827	HP:0001374	Congenital hip dislocation	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional		231
HP:0002827	HP:0001374	Congenital hip dislocation	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0002827	HP:0001374	Congenital hip dislocation	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0002827	HP:0001374	Congenital hip dislocation	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0002827	HP:0001374	Congenital hip dislocation	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0002827	HP:0001374	Congenital hip dislocation	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0002827	HP:0001374	Congenital hip dislocation	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.		10
HP:0002827	HP:0001374	Congenital hip dislocation	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0002827	HP:0001374	Congenital hip dislocation	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0002827	HP:0001374	Congenital hip dislocation	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0002827	HP:0001374	Congenital hip dislocation	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0002827	HP:0001374	Congenital hip dislocation	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease	.		1200
HP:0002827	HP:0001374	Congenital hip dislocation	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent		1200
HP:0002827	HP:0001374	Congenital hip dislocation	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0002827	HP:0001374	Congenital hip dislocation	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0002827	HP:0001374	Congenital hip dislocation	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0002827	HP:0001374	Congenital hip dislocation	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0002827	HP:0001374	Congenital hip dislocation	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.		50
HP:0002827	HP:0001374	Congenital hip dislocation	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0002827	HP:0001374	Congenital hip dislocation	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0002827	HP:0001374	Congenital hip dislocation	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0002827	HP:0001374	Congenital hip dislocation	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0002827	HP:0001374	Congenital hip dislocation	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0002827	HP:0001374	Congenital hip dislocation	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0002827	HP:0001374	Congenital hip dislocation	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040284 - Very rare		16
HP:0002827	HP:0001374	Congenital hip dislocation	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate		5
HP:0002827	HP:0001374	Congenital hip dislocation	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0002827	HP:0001374	Congenital hip dislocation	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0002827	HP:0001374	Congenital hip dislocation	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0002827	HP:0001374	Congenital hip dislocation	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0002827	HP:0001374	Congenital hip dislocation	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0002827	HP:0001374	Congenital hip dislocation	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0002827	HP:0001374	Congenital hip dislocation	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0002827	HP:0001374	Congenital hip dislocation	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.		13
HP:0002827	HP:0001374	Congenital hip dislocation	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0002827	HP:0001374	Congenital hip dislocation	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0002827	HP:0001374	Congenital hip dislocation	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0002827	HP:0001374	Congenital hip dislocation	1	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional		14
HP:0002827	HP:0001374	Congenital hip dislocation	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002827	HP:0001374	Congenital hip dislocation	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0002827	HP:0008780	Congenital bilateral hip dislocation	2	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional		6
HP:0002827	HP:0008780	Congenital bilateral hip dislocation	2	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0002827	HP:0008780	Congenital bilateral hip dislocation	2	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.		373
HP:0002827	HP:0008780	Congenital bilateral hip dislocation	2	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent		12
HP:0002827	HP:0008780	Congenital bilateral hip dislocation	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0002827	HP:0008780	Congenital bilateral hip dislocation	2	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent		42
HP:0002827	HP:0008780	Congenital bilateral hip dislocation	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12

Genes (255) :AARS1 ABCC9 ACTA1 ADAMTS2 ADAMTSL2 AEBP1 AFF3 AGRN AKT1 ALDH18A1 ALG9 APC ARNT2 ATAD1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR B3GALT6 B3GAT3 BICD2 BRCA1 BRCA2 BRD4 BRIP1 C12ORF57 CCDC47 CCDC8 CD96 CDON CEP85L CFL2 CHAT CHRM3 CHRNG CHST3 CLCN3 CLTCL1 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLEC10 COLEC11 COX8A CPLX1 CTBP1 CUL7 DHCR7 DHODH DISP1 DLL1 DNAJC21 DPYSL5 DSTYK DVL1 DVL3 EBP ECEL1 EFEMP2 EIF2AK3 EIF4A3 ELN ERCC1 ERCC4 ERGIC1 EXOC6B EXOSC3 EYA1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN1 FBLN5 FGF8 FGFR1 FGFRL1 FHL1 FIG4 FKRP FLI1 FLNA FLNB FOXH1 FUT8 FZD2 GAS1 GDF5 GEMIN4 GJA1 GLI2 GLI3 GLRA1 GLRB GMPPB GNPTAB GORAB GPC3 GPC4 GPHN GSC HACD1 HACE1 HDAC4 HDAC8 HK1 HNRNPH1 HOXA11 HPRT1 HSPG2 IARS2 IFIH1 IL6ST INPP5K IPO8 ITGA7 KANSL1 KAT6B KDM6A KIF22 KLHL41 KMT2D LARGE1 LETM1 LMNA LMOD3 LONP1 LRP4 LTBP1 LYSET MACF1 MAD2L2 MAP3K20 MAP3K7 MASP1 MBTPS2 MCTP2 MKKS MYH3 MYH7 MYH8 MYL2 MYO9A NAA10 NEB NFIX NGLY1 NIPBL NKX3-2 NODAL NSD2 NSDHL OBSL1 OCRL OFD1 OSGEP PAFAH1B1 PALB2 PIEZO2 PIGL PLCH1 PLOD1 POLR3B POMT1 POMT2 PORCN PPP2R5D PTCH1 PTEN PTRH2 PUF60 PYCR1 PYCR2 RAD21 RAD51 RAD51C RBM8A RECQL4 RFWD3 RNU4ATAC RUNX2 RYR1 SCYL2 SEC31A SELENON SF3B4 SHH SHROOM4 SIL1 SIX1 SIX3 SLC12A2 SLC18A3 SLC25A1 SLC2A10 SLC35A3 SLC5A7 SLC6A5 SLC6A9 SLX4 SMC1A SMC3 SMO SMOC1 SNAP25 SNRPB SOX9 STAG2 STIL SYT2 TBCD TBX15 TDGF1 TELO2 TFE3 TGIF1 THRA TNNT3 TONSL TOR1A TPM2 TPM3 TRIM8 UBA2 UBE2T UBE3B USP9X VAC14 VAMP1 WNT5A WNT7A XRCC2 XYLT1 YWHAE ZC4H2 ZIC2 ZIC3 ZMPSTE24 ZNF469

Diseases (210) :OMIM:616339 OMIM:619719 ORPHA:2020 OMIM:255310 ORPHA:171436 ORPHA:1901 ORPHA:536532 OMIM:618000 OMIM:619297 ORPHA:98914 ORPHA:744 ORPHA:90348 OMIM:616603 OMIM:219150 OMIM:608776 ORPHA:3258 OMIM:615926 ORPHA:3197 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 OMIM:617403 ORPHA:198 OMIM:210600 OMIM:615349 ORPHA:93359 OMIM:271640 OMIM:245600 OMIM:618291 ORPHA:84 ORPHA:199 OMIM:218340 OMIM:618268 ORPHA:2616 OMIM:211750 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:572013 OMIM:100100 ORPHA:2970 OMIM:265000 OMIM:619512 ORPHA:453510 OMIM:616471 ORPHA:75840 ORPHA:536516 ORPHA:1899 ORPHA:287 OMIM:130060 OMIM:617821 ORPHA:1143 OMIM:156550 OMIM:183900 ORPHA:286 OMIM:130010 OMIM:254090 ORPHA:293843 OMIM:265050 OMIM:619059 OMIM:194190 OMIM:273750 OMIM:270400 ORPHA:818 OMIM:263750 OMIM:617052 OMIM:619435 ORPHA:101003 ORPHA:3107 ORPHA:35173 OMIM:615065 ORPHA:90349 OMIM:226980 OMIM:268305 OMIM:610758 OMIM:618395 OMIM:614678 OMIM:113650 ORPHA:3412 ORPHA:404451 OMIM:300280 OMIM:216340 ORPHA:3472 ORPHA:370968 ORPHA:2308 ORPHA:2484 OMIM:309350 OMIM:311300 OMIM:304120 ORPHA:56305 OMIM:150250 OMIM:618005 ORPHA:968 OMIM:201250 OMIM:617913 OMIM:164200 ORPHA:672 OMIM:146510 ORPHA:93322 OMIM:149400 OMIM:252500 ORPHA:576 ORPHA:2078 ORPHA:373 OMIM:602471 OMIM:616756 ORPHA:464282 OMIM:619797 OMIM:618547 OMIM:620083 OMIM:605432 OMIM:300322 OMIM:255800 ORPHA:436174 OMIM:616007 OMIM:182250 OMIM:618523 ORPHA:559 OMIM:619472 OMIM:610443 OMIM:606170 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:603546 ORPHA:93360 ORPHA:740 OMIM:600373 ORPHA:1458 OMIM:619451 OMIM:619345 OMIM:617137 OMIM:308205 ORPHA:1596 OMIM:236700 OMIM:193700 OMIM:158300 ORPHA:3377 OMIM:300855 ORPHA:447980 ORPHA:404454 OMIM:613330 OMIM:308050 OMIM:309000 ORPHA:534 OMIM:300209 OMIM:617729 ORPHA:217385 OMIM:114300 ORPHA:3474 OMIM:225400 ORPHA:1900 OMIM:614381 OMIM:613156 OMIM:305600 ORPHA:457279 OMIM:616355 ORPHA:456312 OMIM:616263 ORPHA:508488 ORPHA:508498 OMIM:615583 OMIM:612940 OMIM:614438 ORPHA:481152 OMIM:274000 ORPHA:3320 OMIM:268400 OMIM:226960 OMIM:210710 OMIM:119600 ORPHA:597 OMIM:117000 OMIM:618651 OMIM:154400 ORPHA:85288 OMIM:619083 ORPHA:3342 OMIM:615553 ORPHA:370943 OMIM:617301 OMIM:241800 ORPHA:1106 OMIM:206920 OMIM:117650 ORPHA:140 OMIM:114290 ORPHA:496641 ORPHA:93333 ORPHA:488642 OMIM:301066 OMIM:614450 OMIM:618435 ORPHA:93357 OMIM:618947 OMIM:108120 OMIM:619428 OMIM:619959 OMIM:244450 OMIM:300968 ORPHA:480880 OMIM:228930 OMIM:276820 OMIM:615777 OMIM:314580 OMIM:301041 OMIM:306955 OMIM:229200

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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