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renal coloboma syndrome
Summary
- Synonym
-
- 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
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0090006
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q02962 | Paired box protein Pax-2 |
