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 shoulder girdle musculature (HP:0001435)

Grandparent Node:
Aplasia/Hypoplasia involving the musculature of the upper limbs (HP:0001467)

Parent Node:
Aplasia/Hypoplasia involving the shoulder musculature (HP:0001464)

..Starting node
..Shoulder muscle aplasia (HP:0500023)

Term ID:

500023

Name:

Shoulder muscle aplasia

Synonym:

Absent shoulder muscle

Definition:

Absence of shoulder muscles.

Comments:

Reference:

HP:0500023

Genes and Diseases:

Child Nodes:

Sister Nodes:

Shoulder muscle hypoplasia (HP:0008952)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0500023	HP:0500023	Shoulder muscle aplasia	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.