Category:JMP syndrome

A monogenic disease that is an autosomal recessive autoinflammatory disorder characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy. OMIM mapping confirmed by DO. [SN]. equivalent URI:=http://purl.obolibrary.org/obo/DOID_0050553