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inherited Creutzfeldt-Jakob disease

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:1200189 (https://orcid.org/0000-0003-0011-764X)
  • UMLS:C0751254 (MONDO:equivalentTo)
  • Orphanet:282166 (OMIM:123400)
  • icd11.foundation:607607042 (https://orcid.org/0000-0002-4142-7153)
  • SCTID:715807002 (MONDO:equivalentTo)
  • OMIM:123400 (Orphanet:282166/e)
  • MEDGEN:155837 (MONDO:equivalentTo)
  • GARD:17307 (MONDO:GARD)
Subsets

harrisons_view_infectious_disease, gard_rare, matrix_llm__is_cancer_other, ordo_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_included, nord_rare, mondo_top_grouping_infectious_disease, matrix_txgnn_grouping_member, rare, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_neurodegenerative_disease, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_infectious_disease, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease

abbreviation
CJD [ MONDO:Lexical ]

exactMatch

http://identifiers.org/snomedct/715807002

https://omim.org/entry/123400

http://identifiers.org/medgen/155837

http://linkedlifedata.com/resource/umls/id/C0751254

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/607607042

http://www.orpha.net/ORDO/Orphanet_282166

has related synonym

Creutzfeldt-Jakob disease, familial

Creutzfeldt-Jakob disease, Heidenhain variant

Creutzfeldt-Jakob disease

Creutzfeldt-Jakob disease, variant

Creutzfeldt-Jakob disease, sporadic

CJD

id

MONDO:0007403

term tracker item

https://github.com/monarch-initiative/mondo/issues/6877

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

https://github.com/monarch-initiative/mondo/issues/6671