nasu-hakola disease Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. (Orphanet Rare Disease Ontology, Orphanet_2770)
External Link http://www.omim.org/entry/221770
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Genes

2 genes associated with the nasu-hakola disease phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
TREM2 triggering receptor expressed on myeloid cells 2
TYROBP TYRO protein tyrosine kinase binding protein