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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: Eagle-Barret syndrome, Obrisnksy syndrome, abdominal muscle deficiency syndrome,
Echinobase Genes
:
LOC754546
| MIM:100100 - abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism |
Other Model Organisms: AGR, 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)