prune belly syndrome

Summary

DOID:0060889 - prune belly syndrome

Disease Ontology 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.

Synonyms: abdominal muscle deficiency syndrome, Eagle-Barret syndrome, Obrisnksy syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: chrm3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007032 - prune belly syndrome

MONDO:0007032 - prune belly syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), syndrome (is_a)