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ventriculomegaly - cystic kidney disease (DOID:0111625)
Alliance: disease page
Synonyms: congenital nephrosis-cerebral ventriculomegaly syndrome; cystic kidney disease with ventriculomegaly; ventriculomegaly with cystic kidney disease; VMCKD
Alt IDs: OMIM:219730, MESH:C565657, ORDO:443988, UMLS_CUI:C1857423
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory