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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:psoriasis 7
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Accession:DOID:0111279 term browser browse the term
Definition:A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R. (DO)
Synonyms:exact_synonym: PSORS7
 broad_synonym: IL23R-RELATED CONDITION
 related_synonym: PSORIASIS 7, SUSCEPTIBILITY TO;   Psoriasis Susceptibility 7
 primary_id: OMIM:605606


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psoriasis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il23r interleukin 23 receptor ISO ClinVar Annotator: match by term: IL23R-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        Papulosquamous Skin Diseases 169
          psoriasis 137
            psoriasis 7 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          primary immunodeficiency disease 4146
            autoimmune disease 2321
              autoimmune disease of musculoskeletal system 994
                autoimmune disease of skin and connective tissue 192
                  psoriasis 137
                    psoriasis 7 1
paths to the root