| Metadata | |
|---|---|
| ID | DOID:0060889 |
| Name | prune belly 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. https://en.wikipedia.org/wiki/Prune_belly_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/22077972, https://www.ncbi.nlm.nih.gov/books/NBK544248/, https://www.ncbi.nlm.nih.gov/pubmed/15912376 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
abdominal muscle deficiency syndrome [EXACT] Eagle-Barrett syndrome [EXACT] Obrinsky syndrome [EXACT] triad syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |