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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:ventriculomegaly - cystic kidney disease
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Accession:DOID:0111625 term browser browse the term
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 CRB2 on chromosome 9q33.3. (DO)
Synonyms:exact_synonym: VMCKD;   congenital nephrosis-cerebral ventriculomegaly syndrome;   cystic kidney disease with ventriculomegaly
 primary_id: MESH:C565657
 alt_id: OMIM:219730
 xref: ORDO:443988
For additional species annotation, visit the Alliance of Genome Resources.


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ventriculomegaly - cystic kidney disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Ventriculomegaly with cystic kidney disease ClinVar
OMIM
PMID:25557779 PMID:25557780 PMID:25741868 PMID:26925547 PMID:27004616 PMID:28492532 NCBI chr 3:22,037,812...22,061,247
Ensembl chr 3:22,038,357...22,058,871
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    syndrome 7744
      ventriculomegaly - cystic kidney disease 1
Path 2
Term Annotations click to browse term
  disease 16977
    Developmental Disease 10670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9142
        genetic disease 8664
          monogenic disease 6639
            autosomal genetic disease 5795
              autosomal recessive disease 3272
                ventriculomegaly - cystic kidney disease 1
paths to the root