loading...| Preferred Name | prion disease | |
| Synonyms |
spongiform encephalopathy prion disease prion induced disorder prion protein disease prion disease pathway |
|
| Definitions |
A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal. A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83) |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0004720 |
|
| database_cross_reference |
NCIT:C128346 SNOMEDCT:20484008 MedDRA:10080750 MedDRA:10079301 OMIM:245300 ICD9:046.19 MONDO:0005429 SCTID:230284004 NANDO:1200186 OMIM:606688 MEDGEN:56445 MESH:D017096 UMLS:C0162534 DOID:649 |
|
| definition |
A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal. A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83) |
|
| definition_citation |
D017096 |
|
| gwas_trait |
true |
|
| has_exact_synonym |
spongiform encephalopathy prion disease prion induced disorder prion protein disease prion disease pathway |
|
| id |
EFO:0004720 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare |
|
| label |
prion disease |
|
| notation |
EFO:0004720 |
|
| preferred label |
prion disease |
|
| prefLabel |
prion disease |
|
| skos_exactMatch |
http://identifiers.org/snomedct/230284004 http://identifiers.org/medgen/56445 http://identifiers.org/mesh/D017096 http://linkedlifedata.com/resource/umls/id/C0162534 http://purl.obolibrary.org/obo/NCIT_C128346 |
|
| term editor |
Helen Parkinson |
|
| subClassOf |