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
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
Ontology
Human Disease   ( DOID:0090112 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.