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RGD uses the Human Disease Ontology (DO, 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)
 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 chr11:87,076,205...87,081,306
Ensembl chr11:87,076,381...87,081,950
JBrowse link
G Prodh1 proline dehydrogenase 1 susceptibility ISO ClinVar Annotator: match by term: Schizophrenia 4 ClinVar
PMID:11510941, PMID:11891283, PMID:12217952, PMID:15494707, PMID:15662599, PMID:17412540, PMID:20524212, PMID:22090377, PMID:24033266, PMID:24842239, PMID:25741868, PMID:28492532, PMID:28708303, PMID:30311386 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                schizophrenia 4 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              cognitive disorder 1915
                psychotic disorder 1093
                  schizophrenia 1015
                    schizophrenia 4 2
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.