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

Grandparent Node:
Hypoplasia of the musculature (HP:0009004)

Parent Node:
Upper limb muscle hypoplasia (HP:0009016)

..Starting node
..Hypoplasia of the upper arm musculature (HP:0030239)

Term ID:

30239

Name:

Hypoplasia of the upper arm musculature

Synonym:

Underdeveloped upper arm muscles

Definition:

Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.

Comments:

Reference:

HP:0030239

Genes and Diseases:

Child Nodes:

........

Biceps hypoplasia (HP:0009007)

........

Triceps hypoplasia (HP:0100855)

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030239	HP:0030239	Hypoplasia of the upper arm musculature	0	CL E G H
HP:0030239	HP:0100855	Triceps hypoplasia	1	CL E G H
HP:0030239	HP:0009007	Biceps hypoplasia	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.