Search Ontology:
Human Disease
ventriculomegaly - cystic kidney disease
- Term ID
- DOID:0111625
- Synonyms
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- 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 the CRB2 gene on chromosome 9q33.3. (2)
- References
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- MESH:C565657
- MIM:219730
- ORDO:443988
- SNOMEDCT_US_2023_03_01:1216942009
- UMLS_CUI:C1857423
- Ontology
- Human Disease ( DOID:0111625 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models