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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 2
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Accession:DOID:0070078 term browser browse the term
Definition:A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. (DO)
Synonyms:exact_synonym: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 11q-RELATED;   SCZD2
 primary_id: OMIM:603342


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                schizophrenia 2 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              cognitive disorder 2300
                psychotic disorder 1200
                  schizophrenia 1112
                    schizophrenia 2 0
paths to the root