Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
prion disease |
| gptkbp:affects |
thalamus
|
| gptkbp:causedBy |
mutation in PRNP gene
spontaneous prion protein misfolding |
| gptkbp:distinctFrom |
gptkb:fatal_familial_insomnia
|
| gptkbp:duration |
months to a few years
|
| gptkbp:firstDescribed |
1999
|
| gptkbp:hasOrphanetID |
ORPHA:1020
|
| https://www.w3.org/2000/01/rdf-schema#label |
sporadic fatal insomnia
|
| gptkbp:ICD-10_code |
A81.8
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:mortalityRate |
100%
|
| gptkbp:OMIM |
606218
|
| gptkbp:onset |
middle age
|
| gptkbp:prognosis |
fatal
|
| gptkbp:subspecies |
gptkb:transmissible_spongiform_encephalopathy
|
| gptkbp:symptom |
gptkb:dementia
autonomic dysfunction insomnia ataxia |
| gptkbp:treatment |
no effective treatment
|
| gptkbp:bfsParent |
gptkb:fatal_familial_insomnia
|
| gptkbp:bfsLayer |
7
|