ZFIN Human Disease: prune belly syndrome

OBO ID: DOID:0060889

Term Name:	prune belly syndrome		Search Ontology:
Synonyms:	abdominal muscle deficiency syndrome Eagle-Barret syndrome Obrisnksy syndrome
Definition:	A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. (3)
References:	GARD:7479 ICD10CM:Q79.4 MESH:D011535 OMIM:100100 ORDO:2970
Ontology:	Human Disease ( DOID:0060889 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER prune belly syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHRM3	chrm3a chrm3b	Prune belly syndrome	100100

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None