OBO ID: DOID:0050553
Term Name: JMP syndrome Search Ontology:
Synonyms:
  • JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
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. (3)
References:
Ontology: Human Disease   (DOID:0050553)
OTHER JMP syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PSMB8 Proteasome-associated autoinflammatory syndrome 1 and digenic forms 256040
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None