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:
Abnormal morphology of the abdominal musculature (HP:0010991)

Parent Node:
Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)

..Starting node
..Partial abdominal muscle agenesis (HP:0005243)

Term ID:

5243

Name:

Partial abdominal muscle agenesis

Synonym:

Definition:

Failure to form of portions of the abdominal musculature.

Comments:

Reference:

HP:0005243

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the abdominal wall musculature (HP:0005199)

Hypoplasia of the abdominal wall musculature (HP:0005247)

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:0005243	HP:0005243	Partial abdominal muscle agenesis	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9

Genes (1) :COLEC11

Diseases (1) :OMIM:265050

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