Human genes for JMP syndrome
JMP syndrome [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.
Synonyms: JMP syndrome, DOID:0050553, JMP disease, JMP disorder, JMP syndromes ...
Linkouts: OMIM