{"Name":"Hereditary thermosensitive neuropathy","DiseaseID__c":"GARD:0016731","id":16731,"encodedName":"hereditary-thermosensitive-neuropathy","IsDeleted":false,"Disease_Name_Full__c":"Hereditary thermosensitive neuropathy","Xref_IDs__c":"715645004; C1865856; C566575; MEDGEN:355568; MONDO:0011197; OMIM:602107; ORPHA:84093","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0011197","Disease_Description__c":"Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.","GARD_Name__c":"Hereditary thermosensitive neuropathy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0011197","Curated_Disease_Description__c":"Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:84093","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011197","ORPHANET_ID__c":"ORPHA:84093","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía termosensible hereditaria","Spanish_Description_Source__c":"ORPHA:84093","Spanish_Description__c":"La neuropatía termosensible hereditaria es una neuropatía sensitivo-motora desmielinizante hereditaria y poco frecuente caracterizada por episodios reversibles de debilidad muscular ascendente, parestesias y arreflexia, desencadenados por un episodio febril, con o sin parálisis por presión.","Spanish_Disease_Name__c":"neuropatía termosensible hereditaria","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":"Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.","Curated_Disease_Description_Source__c":"MONDO:0011197","Name":"Hereditary thermosensitive neuropathy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:84093"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:84093"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:84093"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/602107","Source__c":"C1865856; MONDO:0011197; ORPHA:84093","Xref__c":"OMIM:602107"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355568","Source__c":"C1865856","Xref__c":"MEDGEN:355568"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566575","Source__c":"MONDO:0011197","Xref__c":"C566575"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715645004","Source__c":"C1865856; MONDO:0011197","Xref__c":"715645004"},{"URL__c":"https://www.orpha.net/en/disease/detail/84093","Source__c":"C1865856; MONDO:0011197; ORPHA:84093","Xref__c":"ORPHA:84093"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865856","Source__c":"C1865856","Xref__c":"C1865856"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011197","Source__c":"GARD:0016731","Xref__c":"MONDO:0011197"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":[""]}