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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-cystic kidney disease OMIM
ClinVar
PMID:25557779 PMID:25557780 PMID:25741868 PMID:26925547 PMID:27004616 More... NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      ventriculomegaly - cystic kidney disease 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            disease of mental health 7594
              Neurodevelopmental Disorders 6224
                Ventriculomegaly 14
                  ventriculomegaly - cystic kidney disease 1
paths to the root