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DOID:0090112 - Nasu-Hakola disease
Disease Ontology 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, PLOSL, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, presenile dementia with bone cysts, progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease ,
Xenbase Genes
:
trem2,
tyrobp
| MONDO:0009092 - polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)