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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 the CRB2 gene on chromosome 9q33.3. (DO)
Synonyms:exact_synonym: VMCKD;   congenital nephrosis-cerebral ventriculomegaly syndrome;   cystic kidney disease with ventriculomegaly
 broad_synonym: CRB2-RELATED CONDITION
 xref: MESH:C565657;   MIM:219730;   MONDO:0009063;   ORDO:443988


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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: CRB2-related condition | ClinVar Annotator: match by term: Ventriculomegaly-cystic kidney disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25557779 PMID:25557780 PMID:25741868 PMID:26795916 PMID:26925547 More... NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      ventriculomegaly - cystic kidney disease 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              Neurodevelopmental Disorders 6969
                Ventriculomegaly 16
                  ventriculomegaly - cystic kidney disease 1
paths to the root