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 femoral epiphysis (HP:0006499)

Parent Node:
Abnormality of the distal femoral epiphysis (HP:0010590)

..Starting node
..Enlargement of the distal femoral epiphysis (HP:0006438)

Term ID:

6438

Name:

Enlargement of the distal femoral epiphysis

Synonym:

Enlargement of the outermost thighbone end part; Large distal femoral epiphyses

Definition:

An abnormal enlargement of the distal epiphysis of the femur.

Comments:

Reference:

HP:0006438

Genes and Diseases:

Child Nodes:

Sister Nodes:

Flat distal femoral epiphysis (HP:0006398)

Irregular distal femoral epiphysis (HP:0006407)

Small distal femoral epiphysis (HP:0012283)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006438	HP:0006438	Enlargement of the distal femoral epiphysis	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia	44

Genes (1) :IHH

Diseases (1) :OMIM:607778

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