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
..Absence of pectoralis minor muscle (HP:0005255)

Term ID:

5255

Name:

Absence of pectoralis minor muscle

Synonym:

Pectoralis minor aplasia

Definition:

Aplasia (congenital absence) of the pectoralis minor.

Comments:

Reference:

HP:0005255

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pectoralis amyotrophy (HP:0012037)

Pectoralis major hypoplasia (HP:0008953)

Unilateral absence of pectoralis major muscle (HP:0005256)

Unilateral hypoplasia of pectoralis major muscle (HP:0011959)

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:0005255	HP:0005255	Absence of pectoralis minor muscle	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165

Genes (1) :LMX1B

Diseases (1) :OMIM:161200

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