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Metadata
DOID DOID:0090112
Name Nasu-Hakola disease
Definition 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.
Synonyms

NHD [EXACT]

PLO-SL [EXACT]

PLOSL [EXACT]

polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [EXACT]

presenile dementia with bone cysts [EXACT]

progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease [EXACT]

Xrefs

GARD:9921

MESH:C536329

OMIM:221770

ORDO:2770

UMLS_CUI:C1857316

Relationships

is_a autosomal recessive disease

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