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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 9
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Accession:DOID:0070085 term browser browse the term
Definition:A schizophrenia that has_material_basis_in a mutation of DISC1 on chromosome 1q42.2. (DO)
Synonyms:exact_synonym: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1q42-RELATED;   SCZD9;   schizophrenia 9 with or without an affective disorder
 primary_id: OMIM:604906
For additional species annotation, visit the Alliance of Genome Resources.


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schizophrenia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Disc1 DISC1 scaffold protein susceptibility ISO OMIM NCBI chr19:57,818,838...58,069,992
Ensembl chr19:57,820,260...58,066,152
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            disease of mental health 5992
              Schizophrenia Spectrum and Other Psychotic Disorders 1099
                schizophrenia 1015
                  schizophrenia 9 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            disease of mental health 5992
              cognitive disorder 1913
                psychotic disorder 1093
                  schizophrenia 1015
                    schizophrenia 9 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.