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:
Abnormal hip joint morphology (HP:0001384)

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

Parent Node:
Hip dislocation (HP:0002827)

..Starting node
..Congenital hip dislocation (HP:0001374)

Term ID:

1374

Name:

Congenital hip dislocation

Synonym:

Congenital dislocation of the hip; Congenital dislocation of the hips; Congenital hip anomaly; Congenital hip dislocations; Dislocated hip since birth

Definition:

Comments:

Reference:

HP:0001374

Genes and Diseases:

Child Nodes:

........

Congenital bilateral hip dislocation (HP:0008780)

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001374	HP:0001374	Congenital hip dislocation	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0001374	HP:0001374	Congenital hip dislocation	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0001374	HP:0001374	Congenital hip dislocation	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0001374	HP:0001374	Congenital hip dislocation	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	127
HP:0001374	HP:0001374	Congenital hip dislocation	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0001374	HP:0001374	Congenital hip dislocation	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0001374	HP:0001374	Congenital hip dislocation	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0001374	HP:0001374	Congenital hip dislocation	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0001374	HP:0001374	Congenital hip dislocation	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0001374	HP:0001374	Congenital hip dislocation	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0001374	HP:0001374	Congenital hip dislocation	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0001374	HP:0001374	Congenital hip dislocation	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0001374	HP:0001374	Congenital hip dislocation	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040283 - Occasional	5
HP:0001374	HP:0001374	Congenital hip dislocation	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	65
HP:0001374	HP:0001374	Congenital hip dislocation	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0001374	HP:0001374	Congenital hip dislocation	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional	4
HP:0001374	HP:0001374	Congenital hip dislocation	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0001374	HP:0001374	Congenital hip dislocation	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability		6
HP:0001374	HP:0001374	Congenital hip dislocation	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0001374	HP:0001374	Congenital hip dislocation	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	6
HP:0001374	HP:0001374	Congenital hip dislocation	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0001374	HP:0001374	Congenital hip dislocation	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0001374	HP:0001374	Congenital hip dislocation	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0001374	HP:0001374	Congenital hip dislocation	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040283 - Occasional	127
HP:0001374	HP:0001374	Congenital hip dislocation	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0001374	HP:0001374	Congenital hip dislocation	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0001374	HP:0001374	Congenital hip dislocation	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0001374	HP:0001374	Congenital hip dislocation	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0001374	HP:0001374	Congenital hip dislocation	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		12
HP:0001374	HP:0001374	Congenital hip dislocation	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0001374	HP:0001374	Congenital hip dislocation	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0001374	HP:0001374	Congenital hip dislocation	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0001374	HP:0001374	Congenital hip dislocation	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.	1
HP:0001374	HP:0001374	Congenital hip dislocation	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0001374	HP:0001374	Congenital hip dislocation	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0001374	HP:0001374	Congenital hip dislocation	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0001374	HP:0001374	Congenital hip dislocation	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0001374	HP:0001374	Congenital hip dislocation	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0001374	HP:0001374	Congenital 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:0001374	HP:0001374	Congenital hip dislocation	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0001374	HP:0001374	Congenital hip dislocation	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0001374	HP:0001374	Congenital hip dislocation	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0001374	HP:0001374	Congenital hip dislocation	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0001374	HP:0001374	Congenital hip dislocation	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0001374	HP:0001374	Congenital hip dislocation	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0001374	HP:0001374	Congenital hip dislocation	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040282 - Frequent	8
HP:0001374	HP:0001374	Congenital hip dislocation	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0001374	HP:0001374	Congenital hip dislocation	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0001374	HP:0001374	Congenital hip dislocation	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0001374	HP:0001374	Congenital hip dislocation	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1269
HP:0001374	HP:0001374	Congenital hip dislocation	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0001374	HP:0001374	Congenital hip dislocation	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0001374	HP:0001374	Congenital hip dislocation	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001374	HP:0001374	Congenital hip dislocation	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0001374	HP:0001374	Congenital hip dislocation	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0001374	HP:0001374	Congenital hip dislocation	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040283 - Occasional	143
HP:0001374	HP:0001374	Congenital hip dislocation	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0001374	HP:0001374	Congenital hip dislocation	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	231
HP:0001374	HP:0001374	Congenital hip dislocation	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0001374	HP:0001374	Congenital hip dislocation	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0001374	HP:0001374	Congenital hip dislocation	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0001374	HP:0001374	Congenital hip dislocation	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0001374	HP:0001374	Congenital hip dislocation	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0001374	HP:0001374	Congenital hip dislocation	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.	10
HP:0001374	HP:0001374	Congenital hip dislocation	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional	6
HP:0001374	HP:0001374	Congenital hip dislocation	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0001374	HP:0001374	Congenital hip dislocation	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0001374	HP:0001374	Congenital hip dislocation	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0001374	HP:0001374	Congenital hip dislocation	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease	.	1200
HP:0001374	HP:0001374	Congenital hip dislocation	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent	1200
HP:0001374	HP:0001374	Congenital hip dislocation	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1200
HP:0001374	HP:0001374	Congenital hip dislocation	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0001374	HP:0001374	Congenital hip dislocation	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		144
HP:0001374	HP:0001374	Congenital hip dislocation	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type		42
HP:0001374	HP:0001374	Congenital hip dislocation	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0001374	HP:0001374	Congenital hip dislocation	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0001374	HP:0001374	Congenital hip dislocation	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	28
HP:0001374	HP:0001374	Congenital hip dislocation	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	9
HP:0001374	HP:0001374	Congenital hip dislocation	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0001374	HP:0001374	Congenital hip dislocation	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0001374	HP:0001374	Congenital hip dislocation	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	4
HP:0001374	HP:0001374	Congenital hip dislocation	0	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:0001374	HP:0001374	Congenital hip dislocation	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate	5
HP:0001374	HP:0001374	Congenital hip dislocation	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder		12
HP:0001374	HP:0001374	Congenital hip dislocation	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.	9
HP:0001374	HP:0001374	Congenital hip dislocation	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54
HP:0001374	HP:0001374	Congenital hip dislocation	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0001374	HP:0001374	Congenital hip dislocation	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		54
HP:0001374	HP:0001374	Congenital hip dislocation	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0001374	HP:0001374	Congenital hip dislocation	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		108
HP:0001374	HP:0001374	Congenital hip dislocation	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0001374	HP:0001374	Congenital hip dislocation	0	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:0001374	HP:0001374	Congenital hip dislocation	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0001374	HP:0001374	Congenital 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:0001374	HP:0001374	Congenital hip dislocation	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	14
HP:0001374	HP:0001374	Congenital hip dislocation	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001374	HP:0001374	Congenital hip dislocation	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397
HP:0001374	HP:0008780	Congenital bilateral hip dislocation	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional	6
HP:0001374	HP:0008780	Congenital bilateral hip dislocation	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0001374	HP:0008780	Congenital bilateral hip dislocation	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0001374	HP:0008780	Congenital bilateral hip dislocation	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0001374	HP:0008780	Congenital bilateral hip dislocation	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0001374	HP:0008780	Congenital bilateral hip dislocation	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent	42
HP:0001374	HP:0008780	Congenital bilateral hip dislocation	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12

Genes (83) :ABCC9 ACTA1 AGRN ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 BICD2 CCDC8 CHAT CHRM3 CLCN3 CLTCL1 COL12A1 COL13A1 COL1A1 COL3A1 COL5A2 CUL7 DHODH DNAJC21 ECEL1 EYA1 FBLN1 FHL1 FIG4 FLNA GEMIN4 GPC3 GPC4 HACD1 HDAC4 HSPG2 IARS2 ITGA7 KAT6B KDM6A KIF22 KMT2D LONP1 MAP3K20 MAP3K7 MKKS MYH7 MYL2 MYO9A NAA10 NGLY1 NSDHL OBSL1 OFD1 PAFAH1B1 PIEZO2 PLOD1 PORCN PPP2R5D PTRH2 PUF60 PYCR1 RECQL4 RYR1 SELENON SHROOM4 SIX1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SNRPB SYT2 TBCD TBX15 TELO2 THRA TPM2 TPM3 UBE3B USP9X VAMP1 WNT7A YWHAE ZIC3 ZNF469

Diseases (68) :OMIM:619719 ORPHA:2020 OMIM:255310 ORPHA:98914 OMIM:219150 ORPHA:357074 OMIM:219200 ORPHA:2834 OMIM:278250 OMIM:618291 ORPHA:2616 OMIM:100100 ORPHA:2970 OMIM:619512 ORPHA:453510 ORPHA:536516 OMIM:130060 ORPHA:286 OMIM:130010 OMIM:263750 OMIM:617052 OMIM:615065 OMIM:113650 ORPHA:404451 OMIM:300280 OMIM:216340 OMIM:304120 OMIM:617913 ORPHA:373 OMIM:619797 OMIM:255800 OMIM:616007 OMIM:606170 OMIM:147920 OMIM:603546 OMIM:600373 ORPHA:1458 OMIM:617137 OMIM:236700 OMIM:300855 ORPHA:404454 OMIM:308050 OMIM:300209 ORPHA:217385 OMIM:114300 OMIM:225400 ORPHA:1900 OMIM:305600 ORPHA:457279 OMIM:616355 ORPHA:456312 ORPHA:508488 OMIM:612940 OMIM:268400 OMIM:117000 ORPHA:597 ORPHA:85288 OMIM:117650 ORPHA:496641 ORPHA:93333 ORPHA:488642 OMIM:614450 OMIM:108120 OMIM:244450 ORPHA:480880 OMIM:228930 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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