RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
EGBRS; Eagle Barrett syndrome; Eagle-Barret syndrome; Obrinsky syndrome; Obrisnksy syndrome; PBS; abdominal muscle deficiency syndrome; absence of abdominal muscles with urinary tract abnormality and cryptorchidism; congenital absence of the abdominal muscles; prune belly syndromes