Terminology Service for NFDI4Health

JMP syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0050553


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

JMP syndrome

Synonyms
  • JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
database cross reference
has obo namespace

disease_ontology

id

DOID:0050553