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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 5
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Accession:DOID:0060919 term browser browse the term
Definition:A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. (DO)
Synonyms:exact_synonym: PRAAS5;   PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5
 primary_id: OMIM:619175
 alt_id: DOID:9009033


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proteosome-associated autoinflammatory syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:31783057 NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      proteosome-associated autoinflammatory syndrome 163
        proteosome-associated autoinflammatory syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Metabolic Skin Diseases 200
                lipodystrophy 200
                  proteosome-associated autoinflammatory syndrome 163
                    proteosome-associated autoinflammatory syndrome 5 1
paths to the root