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 morphology of the pelvis musculature (HP:0001469)

Parent Node:
Aplasia/Hypoplasia of the musculature of the pelvis (HP:0001471)

..Starting node
..Aplasia of the musculature of the pelvis (HP:0500024)

Term ID:

500024

Name:

Aplasia of the musculature of the pelvis

Synonym:

Definition:

Absence of the musculature of the pelvis.

Comments:

Reference:

HP:0500024

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital absence of gluteal muscles (HP:0009013)

Hypoplasia of the musculature of the pelvis (HP:0500026)

Pelvic girdle muscle atrophy (HP:0008988)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0500024	HP:0500024	Aplasia of the musculature of the pelvis	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.