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 |
|
| database_cross_reference |
ICD10CM:A81.1 Orphanet:56970 GARD:18851 |
|
| 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 |
|
| id |
MONDO:0018926 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
human prion disease |
|
| notation |
MONDO:0018926 |
|
| preferred label |
human prion disease |
|
| prefLabel |
human prion disease |
|
| skos_exactMatch | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0018926 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0018926 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0018926 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0018926 | DOVES | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_56970 | ORDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0018926 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0018926 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0018926 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0018926 | DOVES | LOOM |