disease has basis in dysfunction of PAX2 autosomal dominant disease renal coloboma syndrome CAKUT with or without ocular abnormalities DOID:0090006 GARD:0004106 ICD10:Q60.4 ICD9:759.89 MESH:C537168 MONDO:0007352 NCIT:C123230 OMIM:120330 Orphanet:1475 PAPILLORENAL syndrome PAPRS Papillo-renal syndrome Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. SCTID:446449009 UMLS:C1852759 coloboInOwlma of optic nerve with renal disease congenital anomalies of the kidney and urinary tract with or without ocular abnormalities https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome optic coloboInOwlma, vesicoureteral reflux and renal anomalies optic coloboInOwlma, vesicoureteral reflux, and renal anomalies optic nerve coloboInOwlma with renal disease papillo-renal syndrome, optic nerve coloboInOwlma with renal disease papillorenal syndrome renal-coloboInOwlma syndrome renal-coloboInOwlma syndrome with macular abnormalities syndromic developmental defect of the eye syndromic urogenital tract malformation syndromic renal or urinary tract malformation rare eye disease due to a differentiation anomaly