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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 2
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Accession:DOID:0080475 term browser browse the term
Definition:A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: PSORS2;   Psoriasis Susceptibility 2
 narrow_synonym: PAPULOSQUAMOUS ERUPTIONS
 primary_id: OMIM:602723


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psoriasis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card14 caspase recruitment domain family, member 14 ISO
ISS		 OMIM:602723
ClinVar Annotator: match by term: PSORIASIS 2 | ClinVar Annotator: match by term: Psoriasis 2		 OMIM
MouseDO
ClinVar		 PMID:8178173 PMID:9536098 PMID:15689454 PMID:17576681 PMID:18256691 More... NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: PSORIASIS 2 | ClinVar Annotator: match by term: Psoriasis 2 ClinVar PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		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 2 2
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 2 2
paths to the root