Search Ontology:
Human Disease
renal coloboma syndrome
- Term ID
- DOID:0090006
- Synonyms
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- 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. (2)
- References
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- GARD:4106
- ICD10CM:Q60.4
- MIM:120330
- ORDO:1475
- Ontology
- Human Disease ( DOID:0090006 )
- is a type of
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