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Human Disease

renal coloboma syndrome

Term ID
DOID:0090006
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
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. (2)
References
Ontology
Human Disease   ( DOID:0090006 )
Relationships
is a type of
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Genes Involved
Zebrafish Models