loading...| Preferred Name |
prune belly syndrome |
| Synonyms |
Obrisnksy syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0060889 |
| database_cross_reference |
GARD:7479 ORDO:2970 ICD10CM:Q79.4 OMIM:100100 MESH:D011535 |
| 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. |
| has exact synonym |
Obrisnksy syndrome abdominal muscle deficiency syndrome Eagle-Barret syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0060889 |
| in_subset | |
| label |
prune belly syndrome |
| notation |
DOID:0060889 |
| prefLabel |
prune belly syndrome |
| subClassOf |