Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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:
OMIM:120330 - PAPILLORENAL SYNDROME; PAPRS

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)


Xenbase: The Xenopus laevis and X. tropicalis resource.
Version: 4.11.3


Major funding for Xenbase is provided by grant P41 HD064556