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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 15
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Accession:DOID:0070091 term browser browse the term
Definition:A schizophrenia that has_material_basis_in a mutation of SHANK3 on chromosome 22q13.33. (DO)
Synonyms:exact_synonym: SCZD15
 broad_synonym: SHANK3-related disorder
 related_synonym: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED
 primary_id: OMIM:613950
 alt_id: DOID:9005544;   RDO:9000510
For additional species annotation, visit the Alliance of Genome Resources.


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schizophrenia 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by OMIM:613950
ClinVar Annotator: match by term: SHANK3-Related Disorder
ClinVar Annotator: match by term: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED
OMIM
ClinVar
PMID:20385823, PMID:25741868, PMID:30763456 NCBI chr 7:130,474,278...130,534,679
Ensembl chr 7:130,474,279...130,534,679
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                schizophrenia 15 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              cognitive disorder 1914
                psychotic disorder 1092
                  schizophrenia 1014
                    schizophrenia 15 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.