GenTIGSA Gene Database on Rare Genetic Disorders
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Renal Coloboma Syndrome  
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 coloboma syndrome

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

 


Cross-references of Renal coloboma syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations