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 skeletal musculature (HP:0001460)

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

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

..Starting node
..Upper limb muscle hypoplasia (HP:0009016)

Term ID:

9016

Name:

Upper limb muscle hypoplasia

Synonym:

Underdevelopment of upper limb muscles

Definition:

Underdevelopment of muscles of the arm.

Comments:

Reference:

HP:0009016

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the upper arm musculature (HP:0030239)

................... HP:0009007 Biceps hypoplasia
................... HP:0100855 Triceps hypoplasia

Sister Nodes:

Calf muscle hypoplasia (HP:0008962)

Neck muscle hypoplasia (HP:0008984)

Pectoralis hypoplasia (HP:0008998)

Shoulder muscle hypoplasia (HP:0008952)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009016	HP:0009016	Upper limb muscle hypoplasia	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0009016	HP:0030239	Hypoplasia of the upper arm musculature	1	CL E G H
HP:0009016	HP:0009007	Biceps hypoplasia	2	CL E G H
HP:0009016	HP:0100855	Triceps hypoplasia	2	CL E G H

Genes (1) :SALL4

Diseases (1) :OMIM:607323

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.