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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 6
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Accession:DOID:0070082 term browser browse the term
Definition:A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD6 on chromosome 8p21. (DO)
Synonyms:exact_synonym: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 8p-RELATED;   SCZD6
 primary_id: OMIM:603013
For additional species annotation, visit the Alliance of Genome Resources.


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schizophrenia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrg1 neuregulin 1 susceptibility ISO DNA:SNP:enhancer, haplotype: OMIM PMID:16526041 PMID:15704228 RGD:39128257, RGD:39456086 NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                schizophrenia 6 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              cognitive disorder 1948
                psychotic disorder 1087
                  schizophrenia 1017
                    schizophrenia 6 1
paths to the root