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:
Joint dislocation (HP:0001373)

Parent Node:
Abnormal femoral head morphology (HP:0003368)

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

..Starting node
..Dislocation of the femoral head (HP:0008826)

Term ID:

8826

Name:

Dislocation of the femoral head

Synonym:

Dislocated femoral heads; Dislocated head of thigh bone

Definition:

Joint dislocation of the femoral head.

Comments:

Reference:

HP:0008826

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dislocation of toes (HP:0008141)

Hip dislocation (HP:0002827)

Knee dislocation (HP:0004976)

Patellar dislocation (HP:0002999)

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:0008826	HP:0008826	Dislocation of the femoral head	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0008826	HP:0008826	Dislocation of the femoral head	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0008826	HP:0008826	Dislocation of the femoral head	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166

Genes (3) :HDAC4 IARS2 SLC26A2

Diseases (3) :OMIM:619797 OMIM:616007 ORPHA:93307

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