OBO ID: DOID:0111625
Term Name: ventriculomegaly - cystic kidney disease Search Ontology:
Synonyms:
  • congenital nephrosis-cerebral ventriculomegaly syndrome
  • cystic kidney disease with ventriculomegaly
  • ventriculomegaly with cystic kidney disease
  • VMCKD
Definition: A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in CRB2 on chromosome 9q33.3. (2)
References:
Ontology: Human Disease   (DOID:0111625)
OTHER ventriculomegaly - cystic kidney disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CRB2 Ventriculomegaly with cystic kidney disease 219730
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None