| Metadata | |
|---|---|
| ID | DOID:0090006 |
| Name | renal coloboma syndrome |
| Definition | A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. https://www.ncbi.nlm.nih.gov/pubmed/7795640, https://www.ncbi.nlm.nih.gov/pubmed/10466411 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CAKUT with or without ocular abnormalities [EXACT] coloboma of optic nerve with renal disease [EXACT] congenital anomalies of the kidney and urinary tract with or without ocular abnormalities [EXACT] optic coloboma, vesicoureteral reflux and renal anomalies [EXACT] papillo-renal syndrome, optic nerve coloboma with renal disease [EXACT] papillorenal syndrome [EXACT] renal-coloboma syndrome with macular abnormalities [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |