{"Name":"Hot water reflex epilepsy","DiseaseID__c":"GARD:0017028","id":17028,"encodedName":"hot-water-reflex-epilepsy","IsDeleted":false,"Disease_Name_Full__c":"Hot water reflex epilepsy","Xref_IDs__c":"230454005; 763534009; C4706506; DOID:0081104; MEDGEN:1631373; MONDO:0013229; OMIMPS:613339; ORPHA:166412","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013229","Disease_Description__c":"Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.","GARD_Name__c":"Hot water reflex epilepsy","GARD_Synonym__c":"epilepsy, hot water; hot water epilepsy","Curated_Disease_Description_Source__c":"MONDO:0013229","Curated_Disease_Description__c":"Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:166412","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0013229","ORPHANET_ID__c":"ORPHA:166412","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia refleja por agua caliente","Spanish_Description_Source__c":"ORPHA:166412","Spanish_Description__c":"La epilepsia refleja por agua caliente es una epilepsia poco frecuente que se caracteriza por la aparición de crisis focales o generalizadas a consecuencia de la inmersión de la cabeza en agua caliente o de verter agua caliente sobre la misma. En raras ocasiones, se han observado convulsiones tónico-clónicas generalizadas primarias.","Spanish_Disease_Name__c":"epilepsia refleja por agua caliente","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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":"Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.","Curated_Disease_Description_Source__c":"MONDO:0013229","GARD_Synonym__c":"epilepsy, hot water; hot water epilepsy","Name":"Hot water reflex epilepsy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:166412"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS613339","Source__c":"MONDO:0013229","Xref__c":"OMIMPS:613339"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706506","Source__c":"C4706506","Xref__c":"C4706506"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230454005","Source__c":"MONDO:0013229","Xref__c":"230454005"},{"URL__c":"https://www.orpha.net/en/disease/detail/166412","Source__c":"C4706506; MONDO:0013229; ORPHA:166412","Xref__c":"ORPHA:166412"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1631373","Source__c":"C4706506","Xref__c":"MEDGEN:1631373"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081104","Source__c":"MONDO:0013229","Xref__c":"DOID:0081104"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763534009","Source__c":"C4706506","Xref__c":"763534009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013229","Source__c":"GARD:0017028","Xref__c":"MONDO:0013229"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC1A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["epilepsy, hot water"," hot water epilepsy"]}