Renal Coloboma Syndrome
Disease ID: disease_node_20077
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:4106, ICD10CM:Q60.4, MIM:120330, ORDO:1475 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | CAKUT with or without ocular abnormalities, coloboma of optic nerve with renal disease, congenital anomalies of the kidney and urinary tract with or without ocular abnormalities, optic coloboma, vesicoureteral reflux and renal anomalies, papillo-renal syndrome, optic nerve coloboma with renal disease, papillorenal syndrome, renal-coloboma syndrome with macular abnormalities |
| Doid Label | renal coloboma syndrome |
| Doid Description | A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20077 |
| Doid Id | DOID_0090006 |
| Label | Renal Coloboma Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)