JSON

inherited Creutzfeldt-Jakob disease

^ http://purl.obolibrary.org/obo/MONDO_0007403

Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. [ Orphanet:282166 ]

Term info

database cross reference
  • Orphanet:282166 (OMIM:123400)
  • SCTID:715807002 (MONDO:equivalentTo)
  • UMLS:CN202816 (MONDO:equivalentTo)
  • OMIM:123400 (Orphanet:282166/e)
Subsets

ordo_disease

abbreviation
CJD [ OMIM:123400 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN202816, https://omim.org/entry/123400, http://identifiers.org/snomedct/715807002, http://purl.obolibrary.org/obo/Orphanet_282166

has exact synonym

hereditary Creutzfeldt Jacob disease, inherited CJD, Creutzfeldt-Jakob disease, variant, resistance to

has related synonym

Creutzfeldt-Jakob disease, familial, Creutzfeldt-Jakob disease, Heidenhain variant, Creutzfeldt-Jakob disease, Creutzfeldt-Jakob disease, sporadic, Creutzfeldt-Jakob disease, variant, CJD

id

MONDO:0007403