Prune Belly Syndrome
Disease ID: disease_node_6366
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| Dbxref | GARD:7479, ICD10CM:Q79.4, MESH:D011535, MIM:100100, ORDO:2970 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Eagle-Barret syndrome, Obrisnksy syndrome, abdominal muscle deficiency syndrome |
| Mesh Id | D011535 |
| Mesh Label | Prune Belly Syndrome |
| Mesh Subclassof | D000015 |
| Doid Label | prune belly syndrome |
| Doid Description | 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 Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_6366 |
| Doid Id | DOID_0060889 |
| Label | Prune Belly Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)