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DOID:0090006 - renal coloboma syndrome
Disease Ontology 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.
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,
Echinobase Genes
:
pax2
| MIM:120330 - papillorenal syndrome; paprs |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)