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:
Abnormality of the musculature (HP:0003011)

Parent Node:
Abnormal morphology of the pelvis musculature (HP:0001469)

..Starting node
..Abnormality of the gluteal musculature (HP:0001443)

Term ID:

1443

Name:

Abnormality of the gluteal musculature

Synonym:

Abnormality of glutes

Definition:

Comments:

Reference:

HP:0001443

Genes and Diseases:

Child Nodes:

........

Congenital absence of gluteal muscles (HP:0009013)

Sister Nodes:

Abnormality of the hip-girdle musculature (HP:0001445)

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

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001443	HP:0001443	Abnormality of the gluteal musculature	0	CL E G H
HP:0001443	HP:0009013	Congenital absence of gluteal muscles	1	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.