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Metadata
ID DOID:0090006
Name renal coloboma syndrome
Definition A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24.
https://www.ncbi.nlm.nih.gov/pubmed/10466411, https://www.ncbi.nlm.nih.gov/pubmed/7795640
Xrefs

GARD:4106

ICD10CM:Q60.4

OMIM:120330

ORDO:1475

Subsets

DO_rare_slim

Synonyms

CAKUT with or without ocular abnormalities [EXACT]

coloboma of optic nerve with renal disease [EXACT]

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

optic coloboma, vesicoureteral reflux and renal anomalies [EXACT]

papillo-renal syndrome, optic nerve coloboma with renal disease [EXACT]

papillorenal syndrome [EXACT]

renal-coloboma syndrome with macular abnormalities [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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