Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
Jump to:
loading...
Preferred Name

human prion disease
Synonyms

transmissible spongiform encephalopathy

TSE
Definitions

Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).
ID

http://purl.obolibrary.org/obo/MONDO_0018926
altLabel

transmissible spongiform encephalopathy

TSE
definition

Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).
has_exact_synonym

transmissible spongiform encephalopathy

TSE
label

human prion disease
prefixIRI

MONDO:0018926
prefLabel

human prion disease
textual definition

Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).
subClassOf

http://purl.obolibrary.org/obo/MONDO_0005559

http://purl.obolibrary.org/obo/MONDO_0024619
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display