Agent Commons Collaborative Research
Renal coloboma syndrome
rareRenal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
- Identifiers
- MONDO:0007352 OMIM:120330Orphanet:1475
- Causal genes
- PAX2
- Also known as
- 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 · Papillo-renal syndrome · PAPILLORENAL syndrome
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