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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:JMP syndrome
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Accession:DOID:0050553 term browser browse the term
Definition:A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32. (DO)
Synonyms:exact_synonym: ALDD;   CANDLE;   NKJO;   Nakajo-Nishimura syndrome;   PRAAS1;   autoinflammation, lipodystrophy, and dermatosis syndrome;   chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome;   joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy;   proteasome-associated autoinflammatory syndrome 1
 narrow_synonym: proteasome-associated autoinflammatory syndrome 1, digenic
 primary_id: OMIM:256040
 xref: GARD:10988;   ORDO:324999
For additional species annotation, visit the Alliance of Genome Resources.


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JMP syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psma3 proteasome 20S subunit alpha 3 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331 PMID:26524591 NCBI chr 6:89,483,741...89,503,775
Ensembl chr 6:89,483,727...89,504,965 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746 		JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 OMIM
ClinVar		 PMID:8495043 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21881205 More... NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Proteasome-Associated Autoinflammatory Syndromes 8
        JMP syndrome 4
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            lipid metabolism disorder 1146
              lipodystrophy 38
                Proteasome-Associated Autoinflammatory Syndromes 8
                  JMP syndrome 4
paths to the root