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polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

Disease Summary
Associated Targets (2)
Tbio

2


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Mondo Description A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
Disease Ontology Description An autosomal recessive disease characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYROBP gene on chromosome 19q13 or homozygous mutation in the TREM2 gene on chromosome 6p21.
Mondo Term and Equivalent IDs
MONDO:0009092:  polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
GARD:0009921: 
OMIMPS:221770: 
Orphanet:2770: 
SCTID:702347001: 
UMLS:C1857316: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)