Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 chr17:38,956,489...38,997,189
Ensembl chr17:38,956,489...38,997,265
JBrowse link
G RBM12 RNA binding motif protein 12 susceptibility ISO ClinVar Annotator: match by term: SCHIZOPHRENIA 19 OMIM
ClinVar
PMID:28628109 NCBI chr17:38,980,072...38,997,304
Ensembl chr17:38,956,489...38,997,265
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12682
    disease of anatomical entity 12220
      nervous system disease 9962
        central nervous system disease 8410
          brain disease 7763
            disease of mental health 5638
              Schizophrenia Spectrum and Other Psychotic Disorders 1006
                schizophrenia 972
                  schizophrenia 19 2
Path 2
Term Annotations click to browse term
  disease 12682
    disease of anatomical entity 12220
      nervous system disease 9962
        central nervous system disease 8410
          brain disease 7763
            disease of mental health 5638
              cognitive disorder 1705
                psychotic disorder 1001
                  schizophrenia 972
                    schizophrenia 19 2
paths to the root