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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:pustular psoriasis 14
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Accession:DOID:0080474 term browser browse the term
Definition:A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14. (DO)
Synonyms:exact_synonym: DITRA;   GPP;   PSORP;   PSORS14;   acrodermatitis continua of Hallopeau;   acute generalised pustular psoriasis;   deficiency of IL-36R antagonist;   deficiency of the interleukin-36 receptor antagonist;   generalized pustular psoriasis;   generalized pustular psoriasis of von Zumbusch;   interleukin 36 receptor antagonist deficiency;   palmoplantar pustulosis;   von Zumbusch psoriasis
 primary_id: OMIM:614204
 xref: NCI:C202121;   ORDO:404546

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pustular psoriasis 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1F10 interleukin 1 family member 10 ISO ClinVar Annotator: match by term: Generalized pustular psoriasis ClinVar PMID:19494218 PMID:21792839 PMID:21848462 PMID:22940634 PMID:23698098 More... NCBI chr14:16,087,676...16,097,214
Ensembl chr14:16,093,289...16,095,927 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Generalized pustular psoriasis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G IL36RN interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: ACRODERMATITIS CONTINUA OF HALLOPEAU | ClinVar Annotator: match by term: Generalized pustular psoriasis | ClinVar Annotator: match by term: Psoriasis 14, pustular OMIM
ClinVar		 PMID:6147717 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19494218 More... NCBI chr14:16,079,045...16,085,245
Ensembl chr14:16,079,906...16,083,167 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15272
    sensory system disease 6522
      skin disease 3706
        Papulosquamous Skin Diseases 158
          psoriasis 129
            pustular psoriasis 14 3
Path 2
Term Annotations click to browse term
  disease 15272
    disease of anatomical entity 14892
      Immune & Inflammatory Diseases 4944
        immune system disease 4303
          primary immunodeficiency disease 3708
            autoimmune disease 1982
              autoimmune disease of musculoskeletal system 887
                autoimmune disease of skin and connective tissue 181
                  psoriasis 129
                    pustular psoriasis 14 3
paths to the root