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 epiphysis of the femoral head (HP:0010574)

Grandparent Node:
Absent epiphyses (HP:0010577)

Parent Node:
Abnormal epiphyseal ossification (HP:0010656)

Parent Node:
Abnormal ossification involving the femoral head and neck (HP:0009107)

Parent Node:
Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)

..Starting node
..Absent ossification of capital femoral epiphysis (HP:0008820)

Term ID:

8820

Name:

Absent ossification of capital femoral epiphysis

Synonym:

Absent ossification of femoral capital epiphyses

Definition:

Lack of ossification of the proximal epiphysis of the femur.

Comments:

Reference:

HP:0008820

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the capital femoral epiphysis (HP:0003090)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008820	HP:0008820	Absent ossification of capital femoral epiphysis	0	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.