Human Phenotype Ontology

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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 bone morphology (HP:0003272)

Grandparent Node:
Abnormality of lower limb joint (HP:0100491)

Grandparent Node:
Abnormality of the synovia (HP:0005262)

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

..Starting node
..Hip subluxation (HP:0030043)

Term ID:

30043

Name:

Hip subluxation

Synonym:

Partial hip dislocation; Subluxation involving the hip joint

Definition:

A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.

Comments:

Reference:

HP:0030043

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal acetabulum morphology (HP:0003170)

Femoroacetabular impingement (HP:0030883)

Hip dislocation (HP:0002827)

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:0030043	HP:0030043	Hip subluxation	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0030043	HP:0030043	Hip subluxation	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0030043	HP:0030043	Hip subluxation	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0030043	HP:0030043	Hip subluxation	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0030043	HP:0030043	Hip subluxation	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0030043	HP:0030043	Hip subluxation	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0030043	HP:0030043	Hip subluxation	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	HP:0040283 - Occasional	4
HP:0030043	HP:0030043	Hip subluxation	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030043	HP:0030043	Hip subluxation	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0030043	HP:0030043	Hip subluxation	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0030043	HP:0030043	Hip subluxation	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional	14
HP:0030043	HP:0030043	Hip subluxation	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0030043	HP:0030043	Hip subluxation	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0030043	HP:0030043	Hip subluxation	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0030043	HP:0030043	Hip subluxation	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0030043	HP:0030043	Hip subluxation	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0030043	HP:0030043	Hip subluxation	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0030043	HP:0030043	Hip subluxation	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0030043	HP:0030043	Hip subluxation	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0030043	HP:0030043	Hip subluxation	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional	2
HP:0030043	HP:0030043	Hip subluxation	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68

Genes (21) :AFF4 B3GALT6 BICRA DDR2 DHCR7 EIF2AK3 EIF4A3 GNB2 GNPTAB IFIH1 KIF22 LMNB2 NEPRO NFIX OSTM1 PLOD1 SLC35A2 THOC2 TONSL TRAPPC12 ZNF407

Diseases (21) :ORPHA:444077 OMIM:271640 OMIM:619325 OMIM:271665 OMIM:270400 OMIM:226980 OMIM:268305 OMIM:619503 OMIM:252500 OMIM:182250 ORPHA:93360 OMIM:619180 OMIM:618853 ORPHA:447980 OMIM:259720 ORPHA:1900 ORPHA:356961 OMIM:300957 ORPHA:93357 ORPHA:500144 OMIM:619557

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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