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Summary Literature (0)
DOID:0090006 - renal coloboma syndrome

Disease Ontology Definition:An autosomal dominant disease characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24.

Synonyms: 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; optic coloboma, vesicoureteral reflux and renal anomalies; papillo-renal syndrome, optic nerve coloboma with renal disease; papillorenal syndrome; renal-coloboma syndrome with macular abnormalities

Referenced OMIM:

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : pax2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a)

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