{"Name":"Creutzfeldt-Jakob disease","DiseaseID__c":"GARD:0024173","id":24173,"encodedName":"creutzfeldt-jakob-disease","IsDeleted":false,"Disease_Name_Full__c":"Creutzfeldt-Jakob disease","Xref_IDs__c":"423022145; 792004; C0022336; C26802; D007562; DOID:11949; MEDGEN:7179; MONDO:0005357","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0005357","Disease_Description__c":"A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.","GARD_Name__c":"Creutzfeldt-Jakob disease","GARD_Synonym__c":"cjd; cjd - creutzfeldt-jakob disease; cjd (creutzfeldt jakob disease); classic creutzfeldt-jakob disease; creutzfeldt jacob disease; creutzfeldt jacob syndrome; creutzfeldt jakob disease; creutzfeldt-jacob disease; creutzfeldt-jakob syndrome; jakob-creutzfeldt disease; jcd - jakob-creutzfeldt disease; subacute spongiform encephalopathy; transmissible virus dementia","Curated_Disease_Description_Source__c":"MONDO:0005357","Curated_Disease_Description__c":"A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0005357","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.","Curated_Disease_Description_Source__c":"MONDO:0005357","GARD_Synonym__c":"cjd; cjd - creutzfeldt-jakob disease; cjd (creutzfeldt jakob disease); classic creutzfeldt-jakob disease; creutzfeldt jacob disease; creutzfeldt jacob syndrome; creutzfeldt jakob disease; creutzfeldt-jacob disease; creutzfeldt-jakob syndrome; jakob-creutzfeldt disease; jcd - jakob-creutzfeldt disease; subacute spongiform encephalopathy; transmissible virus dementia","Name":"Creutzfeldt-Jakob disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Creutzfeldt-Jakob Disease Foundation, Inc","Website__c":"https://cjdfoundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C007562","Source__c":"C0022336; MONDO:0005357","Xref__c":"D007562"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0022336","Source__c":"C0022336","Xref__c":"C0022336"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11949","Source__c":"MONDO:0005357","Xref__c":"DOID:11949"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=792004","Source__c":"C0022336; MONDO:0005357","Xref__c":"792004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7179","Source__c":"C0022336","Xref__c":"MEDGEN:7179"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C26802","Source__c":"C0022336; MONDO:0005357","Xref__c":"C26802"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005357","Source__c":"GARD:0024173","Xref__c":"MONDO:0005357"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022145","Xref__c":"423022145"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/creutzfeldt-jakob-disease"},{"URL__c":"https://medlineplus.gov/creutzfeldtjakobdisease.html"}],"tags":{},"synonyms":["cjd"," cjd - creutzfeldt-jakob disease"," cjd (creutzfeldt jakob disease)"," classic creutzfeldt-jakob disease"," creutzfeldt jacob disease"," creutzfeldt jacob syndrome"," creutzfeldt jakob disease"," creutzfeldt-jacob disease"," creutzfeldt-jakob syndrome"," jakob-creutzfeldt disease"," jcd - jakob-creutzfeldt disease"," subacute spongiform encephalopathy"," transmissible virus dementia"]}