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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


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schizophrenia 19 term browser
Symbol Object Name Qualifiers 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 chr 3:144,587,531...144,629,911
Ensembl chr 3:144,588,995...144,598,636 		JBrowse link
G Rbm12 RNA binding motif protein 12 susceptibility ISO ClinVar Annotator: match by term: Schizophrenia 19 ClinVar
OMIM		 PMID:28628109 NCBI chr 3:144,609,661...144,629,911
Ensembl chr 3:144,611,623...144,629,915
Ensembl chr 3:144,611,623...144,629,915 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            disease of mental health 8318
              Schizophrenia Spectrum and Other Psychotic Disorders 1208
                psychotic disorder 1201
                  schizophrenia 1113
                    schizophrenia 19 2
paths to the root