|OBO ID: DOID:0050553|
|Term Name:||JMP syndrome||Search Ontology:|
|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. (2)|
|Ontology:||Human Disease (DOID:0050553)|
|is a type of:||
OTHER JMP syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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