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| Term | ventriculomegaly - cystic kidney disease | ID (Ontology) | DOID:0111625 (Human 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. | ||
| Also Known As | "congenital nephrosis-cerebral ventriculomegaly syndrome" ; "cystic kidney disease with ventriculomegaly" ; "ventriculomegaly with cystic kidney disease" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| ventriculomegaly - cystic kidney disease 1 rec. |
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| Is a |
autosomal recessive disease syndrome |
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MESH:C565657 MIM:219730 ORDO:443988 SNOMEDCT_US_2023_03_01:1216942009 UMLS_CUI:C1857423 |
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