Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:abbreviation |
PLOSL
|
| gptkbp:affects |
gptkb:nervous_system
skeletal system |
| gptkbp:alsoKnownAs |
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
|
| gptkbp:category |
gptkb:bone
leukoencephalopathy |
| gptkbp:diagnosedBy |
genetic testing
radiological imaging |
| gptkbp:firstDescribed |
1973
K. Hakola K. Nasu |
| https://www.w3.org/2000/01/rdf-schema#label |
Nasu-Hakola disease
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:TREM2_gene
TYROBP gene |
| gptkbp:onset |
young adulthood
|
| gptkbp:prevalence |
very rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:progression |
progressive
|
| gptkbp:symptom |
gptkb:dementia
bone fractures neuropsychiatric symptoms bone cysts |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:TREM2
|
| gptkbp:bfsLayer |
7
|