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DOID:0111625 - ventriculomegaly - cystic kidney disease
Disease Ontology 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 the CRB2 gene on chromosome 9q33.3.
Synonyms: congenital nephrosis-cerebral ventriculomegaly syndrome, cystic kidney disease with ventriculomegaly, ventriculomegaly with cystic kidney disease, VMCKD
Xenbase Genes
:
crb2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)