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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 18
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Accession:DOID:0070093 term browser browse the term
Definition:A schizophrenia that has_material_basis_in a mutation of SLC1A1 on chromosome 9p24.2. (DO)
Synonyms:exact_synonym: SCZD18;   schizophrenia susceptibility 18
 related_synonym: chromosome 7q36.3 duplication syndrome, 362-Kb
 primary_id: OMIM:615232
For additional species annotation, visit the Alliance of Genome Resources.


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schizophrenia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a1 solute carrier family 1 member 1 susceptibility ISO ClinVar Annotator: match by term: Schizophrenia 18 OMIM
ClinVar
PMID:23341099 NCBI chrNW_004955434:8,790,685...8,879,757
Ensembl chrNW_004955434:8,790,685...8,879,757
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11827
    disease of anatomical entity 11380
      nervous system disease 9306
        central nervous system disease 7882
          brain disease 7285
            disease of mental health 5295
              Schizophrenia Spectrum and Other Psychotic Disorders 944
                schizophrenia 905
                  schizophrenia 18 1
Path 2
Term Annotations click to browse term
  disease 11827
    disease of anatomical entity 11380
      nervous system disease 9306
        central nervous system disease 7882
          brain disease 7285
            disease of mental health 5295
              cognitive disorder 1597
                psychotic disorder 938
                  schizophrenia 905
                    schizophrenia 18 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.