Name: ventriculomegaly - cystic kidney disease
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0111625 ventriculomegaly - cystic kidney disease 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. cystic kidney disease with ventriculomegaly ventriculomegaly with cystic kidney disease VMCKD congenital nephrosis-cerebral ventriculomegaly syndrome

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.

Synonyms

congenital nephrosis-cerebral ventriculomegaly syndrome
cystic kidney disease with ventriculomegaly

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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