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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 4
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Accession:DOID:0070080 term browser browse the term
Definition:A schizophrenia that has_material_basis_in an autosomal dominant mutation of PRODH on chromosome 22q11.21. (DO)
Synonyms:exact_synonym: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q11-RELATED;   SCZD4
 primary_id: OMIM:600850
For additional species annotation, visit the Alliance of Genome Resources.



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schizophrenia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO ClinVar Annotator: match by term: Schizophrenia 4 ClinVar PMID:12217952 NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
JBrowse link
G Prodh1 proline dehydrogenase 1 susceptibility ISO ClinVar Annotator: match by term: Schizophrenia 4 ClinVar
OMIM
PMID:11510941 PMID:11891283 PMID:12217952 PMID:15494707 PMID:15662599 More... NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                schizophrenia 4 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              cognitive disorder 1952
                psychotic disorder 1091
                  schizophrenia 1021
                    schizophrenia 4 2
paths to the root