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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 the DISC1 gene 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



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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 chr19:53,014,201...53,223,617
Ensembl chr19:53,014,616...53,219,778
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          monogenic disease 10306
            schizophrenia 9 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        central nervous system disease 12366
          brain disease 11603
            disease of mental health 8276
              cognitive disorder 2296
                psychotic disorder 1198
                  schizophrenia 1109
                    schizophrenia 9 1
paths to the root