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Metadata
ID DOID:0050553
Name JMP syndrome
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.
http://jcem.endojournals.org/cgi/reprint/95/9/E58.pdf, http://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php, https://www.ncbi.nlm.nih.gov/pubmed/21129723
Xrefs

GARD:10988

OMIM:256040

ORDO:324999

Synonyms

JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY [EXACT]

Parent Relationships

is_a syndrome

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