OBO ID: DOID:0090006
Term Name: renal coloboma syndrome Search Ontology:
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: 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. (2)
References:
Ontology: Human Disease   (DOID:0090006)
Relationships
is a type of:
OTHER renal coloboma syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PAX2 Papillorenal syndrome 120330
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None