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 musculature of the thorax (HP:0009131)

Parent Node:
Abnormal pectoral muscle morphology (HP:0011957)

..Starting node
..Unilateral absence of pectoralis major muscle (HP:0005256)

Term ID:

5256

Name:

Unilateral absence of pectoralis major muscle

Synonym:

Unilateral aplasia of pectoralis major muscle

Definition:

Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.

Comments:

Reference:

HP:0005256

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absence of pectoralis minor muscle (HP:0005255)

Pectoralis amyotrophy (HP:0012037)

Pectoralis major hypoplasia (HP:0008953)

Unilateral hypoplasia of pectoralis major muscle (HP:0011959)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005256	HP:0005256	Unilateral absence of pectoralis major muscle	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.