Version: 8.0.0
Date: Tue Jan 28 2025
Nasu-Hakola disease
DOID:0090112
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Nasu-Hakola 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.
Synonyms
  • NHD
  • PLO-SL
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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    Associated Alleles

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      Associated Models

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