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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
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
ClinVar Annotator: match by term: Schizophrenia 15
OMIM
ClinVar
PMID:20385823 PMID:25188300 PMID:25741868 PMID:28135719 PMID:29719671 More... NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8961
          monogenic disease 7129
            autosomal genetic disease 6276
              autosomal dominant disease 4461
                schizophrenia 15 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        central nervous system disease 10376
          brain disease 9740
            disease of mental health 7041
              cognitive disorder 1949
                psychotic disorder 1088
                  schizophrenia 1018
                    schizophrenia 15 1
paths to the root