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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
 related_synonym: DISC1-RELATED CONDITION
 primary_id: MIM: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 ClinVar Annotator: match by term: DISC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr19:69,911,548...70,120,970
Ensembl chr19:53,014,616...53,219,778 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            schizophrenia 9 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              cognitive disorder 2320
                psychotic disorder 1219
                  schizophrenia 1113
                    schizophrenia 9 1
paths to the root