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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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm12 RNA binding motif protein 12 susceptibility ISO ClinVar Annotator: match by term: SCHIZOPHRENIA 19 OMIM
ClinVar
PMID:28628109 NCBI chrNW_004936561:5,165,772...5,200,638 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11994
    disease of anatomical entity 11557
      nervous system disease 9471
        central nervous system disease 7990
          brain disease 7377
            disease of mental health 5315
              Schizophrenia Spectrum and Other Psychotic Disorders 941
                schizophrenia 909
                  schizophrenia 19 1
Path 2
Term Annotations click to browse term
  disease 11994
    disease of anatomical entity 11557
      nervous system disease 9471
        central nervous system disease 7990
          brain disease 7377
            disease of mental health 5315
              cognitive disorder 1607
                psychotic disorder 936
                  schizophrenia 909
                    schizophrenia 19 1
paths to the root