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Renal Coloboma Syndrome (MONDO:0007352)

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

Overview

Category

Ontology ID

Internal:8745

Synonyms

CAKUT with or without ocular abnormalities

Papillo-renal syndrome

coloboma of optic nerve with renal disease

congenital anomalies of the kidney and urinary tract with or without ocular abnormalities

papillorenal syndrome

renal-coloboma syndrome with macular abnormalities

PAPILLORENAL syndrome

PAPRS

optic coloboma, vesicoureteral reflux, and renal anomalies

optic nerve coloboma with renal disease

renal-coloboma syndrome

Mapped terms

DOID:0090006

GARD:0004106

ICD9:759.89

MEDGEN:339002

MESH:C537168

NCIT:C123230

OMIM:120330

Orphanet:1475

SCTID:446449009

UMLS:C1852759

Child terms

Unknown children.