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proteosome-associated autoinflammatory syndrome 4 - Ontology Report - Rat Genome Database

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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:proteosome-associated autoinflammatory syndrome 4
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Accession:DOID:0060915 term browser browse the term
Definition:A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. (DO)
Synonyms:exact_synonym: PRAAS4;   PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4;   PSMG2-RELATED CONDITION
 alt_id: DOID:9003015
 xref: MIM:619183;   MONDO:0030931

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proteosome-associated autoinflammatory syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: PSMG2-related condition | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936626:2,328,646...2,344,831
Ensembl chrNW_004936626:2,329,678...2,344,897 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    syndrome 10016
      primary immunodeficiency disease 3860
        autoinflammatory disease 375
          proteosome-associated autoinflammatory syndrome 160
            proteosome-associated autoinflammatory syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      nervous system disease 12614
        Neurologic Manifestations 9433
          sensory system disease 6692
            skin disease 3924
              Genetic Skin Diseases 1777
                Hereditary Autoinflammatory Diseases 343
                  proteosome-associated autoinflammatory syndrome 160
                    proteosome-associated autoinflammatory syndrome 4 1
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