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Disease Ontology Browser
renal coloboma syndrome (DOID:0090006)
Alliance: disease page
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
Alt IDs: OMIM:120330, ICD10CM:Q60.4, ORDO:1475
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.

Disease References using Mouse Models (4)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory