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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
For additional species annotation, visit the Alliance of Genome Resources.


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JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psma3 proteasome subunit alpha 3 JBrowse link 6 93,423,029 93,444,223 RGD:8554872
G Psmb8 proteasome subunit beta 8 JBrowse link 20 3,990,809 3,993,772 RGD:7240710
RGD:8554872

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Path 1
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  disease 14759
    syndrome 4210
      JMP syndrome 2
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          inherited metabolic disorder 1807
            lipid metabolism disorder 721
              lipodystrophy 31
                JMP syndrome 2
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