Search Ontology:
Human Disease

Nasu-Hakola disease

Term ID
DOID:0090112
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
(all 6)
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. (3)
References
(all 6)
Ontology
Human Disease   ( DOID:0090112 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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