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polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1

Disease Summary
Associated Targets (2)
Tbio

2


Uniprot Description Recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL has a global distribution, although most of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2x10(-6) in the Finns.
Mondo Term and Equivalent IDs
MONDO:0020749:  polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1