ZFIN Human Disease: ventriculomegaly - cystic kidney disease

OBO ID: DOID:0111625

Term Name:	ventriculomegaly - cystic kidney disease		Search Ontology:
Synonyms:	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:	MESH:C565657 OMIM:219730 ORDO:443988 SNOMEDCT_US_2023_03_01:1216942009 UMLS_CUI:C1857423
Ontology:	Human Disease ( DOID:0111625 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER ventriculomegaly - cystic kidney disease PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CRB2	crb2a crb2b	Ventriculomegaly with cystic kidney disease	219730

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None