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 shoulder musculature (HP:0001464)

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

Parent Node:
Shoulder muscle hypoplasia (HP:0008952)

..Starting node
..Hypoplasia of deltoid muscle (HP:0030241)

Term ID:

30241

Name:

Hypoplasia of deltoid muscle

Synonym:

Deltoid muscle hypoplasia

Definition:

Underdevelopment of the deltoid muscle.

Comments:

Reference:

HP:0030241

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0030241	HP:0030241	Hypoplasia of deltoid muscle	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86

Genes (1) :SALL4

Diseases (1) :OMIM:147750

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