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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 19
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Accession:DOID:0080281 term browser browse the term
Definition:A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: SCZD19;   schizophrenia 19 with or without an affective disorder
 related_synonym: schizophrenia 19, susceptibility to
 primary_id: OMIM:617629
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12807
    disease of anatomical entity 12337
      nervous system disease 10078
        central nervous system disease 8504
          brain disease 7862
            disease of mental health 5712
              Schizophrenia Spectrum and Other Psychotic Disorders 1036
                schizophrenia 1001
                  schizophrenia 19 0
Path 2
Term Annotations click to browse term
  disease 12807
    disease of anatomical entity 12337
      nervous system disease 10078
        central nervous system disease 8504
          brain disease 7862
            disease of mental health 5712
              cognitive disorder 1722
                psychotic disorder 1030
                  schizophrenia 1001
                    schizophrenia 19 0
paths to the root