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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 15
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Accession:DOID:0070091 term browser browse the term
Definition:A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. (DO)
Synonyms:exact_synonym: SCZD15
 broad_synonym: SHANK3-related disorder
 related_synonym: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED
 primary_id: OMIM:613950

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schizophrenia 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED | ClinVar Annotator: match by term: SHANK3-Related Disorder | ClinVar Annotator: match by term: Schizophrenia 15 OMIM
ClinVar		 PMID:20385823 PMID:25188300 PMID:25741868 PMID:28135719 PMID:29719671 More... NCBI chrNW_004624752:72,545...127,321
Ensembl chrNW_004624752:72,615...127,325 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    Developmental Disease 12293
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11525
        genetic disease 11216
          monogenic disease 9421
            autosomal genetic disease 8754
              autosomal dominant disease 5777
                schizophrenia 15 1
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      nervous system disease 12060
        central nervous system disease 10811
          brain disease 10142
            disease of mental health 7272
              cognitive disorder 1953
                psychotic disorder 1030
                  schizophrenia 989
                    schizophrenia 15 1
paths to the root