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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 18
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Accession:DOID:0070093 term browser browse the term
Definition:A schizophrenia that has_material_basis_in a mutation of SLC1A1 on chromosome 9p24.2. (DO)
Synonyms:exact_synonym: SCZD18;   schizophrenia susceptibility 18
 related_synonym: chromosome 7q36.3 duplication syndrome, 362-Kb
 primary_id: OMIM:615232
For additional species annotation, visit the Alliance of Genome Resources.


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schizophrenia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A1 solute carrier family 1 member 1 susceptibility ISO ClinVar Annotator: match by term: Schizophrenia 18 OMIM
ClinVar
PMID:23341099 NCBI chr 9:4,323,124...4,420,193
Ensembl chr 9:4,511,491...4,608,337
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12751
    Developmental Diseases 9009
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7844
        genetic disease 7395
          monogenic disease 5466
            schizophrenia 18 1
Path 2
Term Annotations click to browse term
  disease 12751
    disease of anatomical entity 12281
      nervous system disease 10042
        central nervous system disease 8491
          brain disease 7869
            disease of mental health 5759
              cognitive disorder 1730
                psychotic disorder 1036
                  schizophrenia 1001
                    schizophrenia 18 1
paths to the root

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