Term Name: Nasu-Hakola disease
Synonyms: NHD, PLO-SL, PLOSL, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, presenile dementia with bone cysts, progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease
Definition: A syndrome that is 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 TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21.
Ontology: Human Disease [DOID:0090112]   ( DOID:0090112 )

Relationships
is a type of: autosomal recessive disease syndrome