About   Help   FAQ
Disease Ontology Browser
Nasu-Hakola disease (DOID:0090112)
Alliance: disease page
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
Alt IDs: OMIM:221770, MESH:C536329, ORDO:2770, UMLS_CUI:C1857316
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory