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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 the SCZD6 gene on chromosome 8p21. (DO)
Synonyms:exact_synonym: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 8p-RELATED;   SCZD6
 primary_id: OMIM:603013


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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:
ClinVar Annotator: match by term: Schizophrenia 6		 OMIM
ClinVar
RGD		 PMID:25741868 PMID:16526041 PMID:15704228 RGD:39128257, RGD:39456086 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                schizophrenia 6 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              cognitive disorder 2302
                psychotic disorder 1201
                  schizophrenia 1113
                    schizophrenia 6 1
paths to the root