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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:SCHIZOPHRENIA 17
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Accession:DOID:9009160 term browser browse the term
Definition:A schizophrenia that has_material_basis_in a mutation of NRXN1 on chromosome 2p16.3.
Synonyms:exact_synonym: SCZD17
For additional species annotation, visit the Alliance of Genome Resources.


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SCHIZOPHRENIA 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Schizophrenia 17 ClinVar PMID:17034946, PMID:18179900, PMID:18945720, PMID:21424692, PMID:21681106, PMID:22504536, PMID:23495017, PMID:23849776, PMID:24832020, PMID:25741868, PMID:28492532 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              Schizophrenia Spectrum and Other Psychotic Disorders 1099
                schizophrenia 1015
                  SCHIZOPHRENIA 17 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              cognitive disorder 1915
                psychotic disorder 1093
                  schizophrenia 1015
                    SCHIZOPHRENIA 17 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.