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
..Hypoplasia of the abdominal wall musculature (HP:0005247)

Term ID:

5247

Name:

Hypoplasia of the abdominal wall musculature

Synonym:

Abdominal muscular hypoplasia

Definition:

Underdevelopment of the abdominal musculature.

Comments:

Reference:

HP:0005247

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the abdominal wall musculature (HP:0005199)

Partial abdominal muscle agenesis (HP:0005243)

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:0005247	HP:0005247	Hypoplasia of the abdominal wall musculature	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0005247	HP:0005247	Hypoplasia of the abdominal wall musculature	0	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis	HP:0040281 - Very frequent	55
HP:0005247	HP:0005247	Hypoplasia of the abdominal wall musculature	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome

Genes (3) :DIS3L2 MANBA SLC25A24

Diseases (3) :OMIM:267000 ORPHA:118 OMIM:612289

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