| Metadata | |
|---|---|
| ID | DOID:0111625 |
| Name | ventriculomegaly - 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. https://www.ncbi.nlm.nih.gov/pubmed/2478019, https://www.ncbi.nlm.nih.gov/pubmed/25557780 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1216942009 |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital nephrosis-cerebral ventriculomegaly syndrome [EXACT] cystic kidney disease with ventriculomegaly [EXACT] ventriculomegaly with cystic kidney disease [EXACT] VMCKD [EXACT] |
| Parent Relationships |
is_a syndrome |