Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2

Preferred Label : Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2;

NCIt synonyms : PLOSL2;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the TREM2 gene, encoding triggering receptor expressed on myeloid cells 2. It is characterized by presenile dementia with leukoencephalopathy and calcification of the basal ganglia.;

Details

Origin ID

C212884;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TREM2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients