Disease Aliases (18) | 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 Coloboma-ureteral-renal syndrome Optic coloboma, vesicoureteral reflux, and renal anomalies Optic nerve coloboma with renal disease Optic nerve coloboma renal syndrome Papillorenal syndrome with mild ocular abnormalities Papillorenal syndrome; paprs Paprs Papillo-renal syndrome Papillorenal syndrome Renal-coloboma syndrome Renal-coloboma syndrome with macular abnormalities Renal hypoplasia, isolated Optic coloboma, vesicoureteral reflux and renal anomalies Papillo-renal syndrome, optic nerve coloboma with renal disease |
Associated Genes (1) NCBI-RefSeq: PAX2 (Paired box 2) External Links: gnomAD browser Ensembl GeneCards
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Cross-references of Renal coloboma syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations |