Gene Expression Ontology

Last uploaded: December 16, 2015
Preferred Name

Creutzfeldt-Jakob disease

Synonyms

CJD

Definitions

(CJD) - Occurs primarily as a sporadic disorder (1 per million), while 10-15% are familial. Accidental transmission of CJD to humans appears to be iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode implantation, etc.). Epidemiologic studies have failed to implicate the ingestion of infected animal meat in the pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerve cell loss, and (3) amyloid plaque formation. CJD is characterized by progressive dementia and myoclonic seizures, affecting adults in mid-life. Some patients present sleep disorders, abnormalities of high cortical function, cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness.

ID

http://identifiers.org/omim/123400

altLabel

CJD

definition

(CJD) - Occurs primarily as a sporadic disorder (1 per million), while 10-15% are familial. Accidental transmission of CJD to humans appears to be iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode implantation, etc.). Epidemiologic studies have failed to implicate the ingestion of infected animal meat in the pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerve cell loss, and (3) amyloid plaque formation. CJD is characterized by progressive dementia and myoclonic seizures, affecting adults in mid-life. Some patients present sleep disorders, abnormalities of high cortical function, cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness.

id

OMIM:123400

notation

OMIM:123400

prefLabel

Creutzfeldt-Jakob disease

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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Delete Mapping To Ontology Source
http://identifiers.org/omim/123400 REXO SAME_URI
http://identifiers.org/omim/123400 RETO SAME_URI
http://purl.bioontology.org/ontology/ICD10/A81.0 ICD10 LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/792004 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/NCIT_C26802 BERO LOOM
http://purl.obolibrary.org/obo/OMIM_123400 CCO LOOM
http://identifiers.org/omim/123400 REXO LOOM
http://identifiers.org/omim/123400 RETO LOOM
http://purl.jp/bio/4/id/200906099370729274 IOBC LOOM
http://www.gamuts.net/entity#Creutzfeldt_Jakob_disease GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Creutzfeldt-Jacob_Disease CSEO LOOM
http://purl.bioontology.org/ontology/WHO/1527 WHO-ART LOOM
http://purl.bioontology.org/ontology/ICD10CM/A81.0 ICD10CM LOOM
http://localhost/plosthes.2017-1#7777 PLOSTHES LOOM
http://www.limics.org/hrdo/rdfns#pat_id_697 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26802 NCIT LOOM
http://purl.obolibrary.org/obo/Creutzfeldt-Jakob_Disease NND_ND LOOM
http://purl.bioontology.org/ontology/OMIM/123400 OMIM LOOM
http://purl.bioontology.org/ontology/RCD/A411. RCD LOOM
http://purl.obolibrary.org/obo/DOID_11949 DOID LOOM
http://purl.obolibrary.org/obo/DOID_11949 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11949 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_11949 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_11949 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_11949 FNS-H LOOM
http://doe-generated-ontology.com/OntoAD#C0022336 ONTOAD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10011384 MEDDRA LOOM