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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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schizophrenia 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpne1 copine 1 ISO ClinVar Annotator: match by term: SCHIZOPHRENIA 19 ClinVar PMID:28628109 NCBI chrNW_004955422:25,793,841...25,837,680
Ensembl chrNW_004955422:25,793,819...25,837,564
Ensembl chrNW_004955422:25,793,819...25,837,564
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11866
    disease of anatomical entity 11420
      nervous system disease 9342
        central nervous system disease 7895
          brain disease 7286
            disease of mental health 5255
              Schizophrenia Spectrum and Other Psychotic Disorders 939
                schizophrenia 906
                  schizophrenia 19 1
Path 2
Term Annotations click to browse term
  disease 11866
    disease of anatomical entity 11420
      nervous system disease 9342
        central nervous system disease 7895
          brain disease 7286
            disease of mental health 5255
              cognitive disorder 1591
                psychotic disorder 933
                  schizophrenia 906
                    schizophrenia 19 1
paths to the root