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:
Abnormality of the humeroradial joint (HP:0100744)

Grandparent Node:
Abnormality of the radial head (HP:0003995)

Grandparent Node:
Elbow dislocation (HP:0003042)

Parent Node:
Dislocated radial head (HP:0003083)

..Starting node
..Anterolateral radial head dislocation (HP:0005050)

Term ID:

5050

Name:

Anterolateral radial head dislocation

Synonym:

Anterior/lateral radial head dislocation

Definition:

A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.

Comments:

Reference:

HP:0005050

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior radial head dislocation (HP:0005084)

Posterior radial head dislocation (HP:0005798)

Proximal radial head dislocation (HP:0005070)

Ulnar radial head dislocation (HP:0005856)

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:0005050	HP:0005050	Anterolateral radial head dislocation	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99

Genes (1) :GPC6

Diseases (1) :OMIM:258315

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