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ONTOLOGY REPORT - ANNOTATIONS


Term:JMP syndrome
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Accession:DOID:0050553 term browser browse the term
Definition:An autosomal recessive disease 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. (DO)
Synonyms:exact_synonym: ALDD;   CANDLE;   CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATED TEMPERATURE SYNDROME;   JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY;   NKJO;   Nakajo-Nishimura syndrome;   PRAAS1;   PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1;   autoinflammation, lipodystrophy, and dermatosis syndrome
 narrow_synonym: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
 primary_id: OMIM:256040
 alt_id: RDO:9000192
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JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psma3 proteasome 20S subunit alpha 3 JBrowse link 6 93,423,029 93,444,223 RGD:8554872
G Psmb8 proteasome 20S subunit beta 8 JBrowse link 20 3,990,809 3,993,772 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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  disease 15619
    syndrome 5154
      JMP syndrome 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            lipid metabolism disorder 734
              lipodystrophy 31
                JMP syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.