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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
ventriculomegaly - cystic kidney disease
Summary
- Synonym
-
- VMCKD
- congenital nephrosis-cerebral ventriculomegaly syndrome
- cystic kidney disease with ventriculomegaly
- ventriculomegaly with cystic kidney disease
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111625
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
