{"Name":"Prion disease","DiseaseID__c":"GARD:0024183","id":24183,"encodedName":"prion-disease","IsDeleted":false,"Disease_Name_Full__c":"Prion disease","Xref_IDs__c":"20484008; 230284004; C0162534; C128346; D017096; DOID:649; MEDGEN:56445; MONDO:0005429","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":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0005429","Disease_Description__c":"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.","GARD_Name__c":"Prion disease","GARD_Synonym__c":"prion disease pathway; prion induced disorder; prion protein disease; spongiform encephalopathy; transmissible spongiform encephalopathy","Curated_Disease_Description_Source__c":"MONDO:0005429","Curated_Disease_Description__c":"Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years.","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:0005429","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":"Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years.","Curated_Disease_Description_Source__c":"MONDO:0005429","GARD_Synonym__c":"prion disease pathway; prion induced disorder; prion protein disease; spongiform encephalopathy; transmissible spongiform encephalopathy","Name":"Prion disease","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C017096","Source__c":"C0162534; MONDO:0005429","Xref__c":"D017096"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0162534","Source__c":"C0162534","Xref__c":"C0162534"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=56445","Source__c":"C0162534","Xref__c":"MEDGEN:56445"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230284004","Source__c":"MONDO:0005429","Xref__c":"230284004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A649","Source__c":"MONDO:0005429","Xref__c":"DOID:649"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C128346","Source__c":"C0162534; MONDO:0005429","Xref__c":"C128346"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=20484008","Source__c":"C0162534","Xref__c":"20484008"},{"URL__c":"https://medlineplus.gov/genetics/condition/prion-disease","Source__c":"GARD:0024183","Xref__c":"https://medlineplus.gov/genetics/condition/prion-disease"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005429","Source__c":"GARD:0024183","Xref__c":"MONDO:0005429"},{"URL__c":"https://www.niaid.nih.gov/diseases-conditions/prion-diseases"}],"tags":{},"synonyms":["prion disease pathway"," prion induced disorder"," prion protein disease"," spongiform encephalopathy"," transmissible spongiform encephalopathy"]}