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)

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

Parent Node:
Pectoral muscle hypoplasia/aplasia (HP:0005258)

..Starting node
..Pectoralis hypoplasia (HP:0008998)

Term ID:

8998

Name:

Pectoralis hypoplasia

Synonym:

Hypoplastic pectoral muscle; Small pec muscle; Underdeveloped pec muscle

Definition:

Underdevelopment of the pectoral muscle.

Comments:

Reference:

HP:0008998

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the pectoralis major muscle (HP:0009751)

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:0008998	HP:0008998	Pectoralis hypoplasia	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0008998	HP:0008998	Pectoralis hypoplasia	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86

Genes (2) :MYMK SALL4

Diseases (2) :OMIM:254940 OMIM:607323

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