Human Phenotype Ontology

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 limb epiphysis morphology (HP:0006505)

Grandparent Node:
Abnormality of the lower limb (HP:0002814)

Parent Node:
Abnormality of lower limb epiphysis morphology (HP:0006500)

..Starting node
..Abnormality of fibular epiphyses (HP:0010593)

Term ID:

10593

Name:

Abnormality of fibular epiphyses

Synonym:

Abnormality of the end part of the calf bone

Definition:

Comments:

Reference:

HP:0010593

Genes and Diseases:

Child Nodes:

........

Abnormality of the proximal fibular epiphysis (HP:0010594)

........

Abnormality of the distal fibular epiphysis (HP:0010595)

Sister Nodes:

Abnormality of femoral epiphysis (HP:0006499)

Abnormality of the epiphyses of the feet (HP:0010631)

Abnormality of tibial epiphyses (HP:0006508)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010593	HP:0010593	Abnormality of fibular epiphyses	0	CL E G H
HP:0010593	HP:0010595	Abnormality of the distal fibular epiphysis	1	CL E G H
HP:0010593	HP:0010594	Abnormality of the proximal fibular epiphysis	1	CL E G H
HP:0010593	HP:0041210	Fractured lateral malleolus of fibula	2	CL E G H

Genes (0) :

Diseases (0) :

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