{"Name":"Hereditary sensory and autonomic neuropathy type 1B","DiseaseID__c":"GARD:0016958","id":16958,"encodedName":"hereditary-sensory-and-autonomic-neuropathy-type-1b","IsDeleted":false,"Disease_Name_Full__c":"Hereditary sensory and autonomic neuropathy type 1B","Xref_IDs__c":"717825008; C1842586; C564296; DOID:0070148; MEDGEN:330880; MONDO:0011961; ORPHA:139564","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011961","Disease_Description__c":"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).","GARD_Name__c":"Hereditary sensory and autonomic neuropathy type 1B","GARD_Synonym__c":"hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux; hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux; hereditary sensory and autonomic neuropathy type ib; hereditary sensory neuropathy type ib; hsan with cough and gastroesophageal reflux; hsan1b; hsan1b - hereditary sensory and autonomic neuropathy type 1b; neuropathy, hereditary sensory, type ib","Curated_Disease_Description_Source__c":"MONDO:0011961","Curated_Disease_Description__c":"Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:139564","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011961","ORPHANET_ID__c":"ORPHA:139564","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía sensitiva autonómica hereditaria tipo 1b","Spanish_Description_Source__c":"ORPHA:139564","Spanish_Description__c":"La neuropatía hereditaria sensitiva y autónoma, tipo 1B (HSAN1B) se caracteriza por la asociación del HSAN tipo 1 con tos paroxística y reflujo gastroesofágico.","Spanish_Disease_Name__c":"neuropatía sensitiva autonómica hereditaria tipo 1b","Spanish_GARD_Synonym__c":"neuropatía sensitiva autonómica hereditaria tipo ib; neuropatía sensitiva y autonómica hereditaria tipo 1 con tos y reflujo gastroesofágico; nsah con tos y reflujo gastroesofágico; nsah1b","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 sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).","Curated_Disease_Description_Source__c":"MONDO:0011961","GARD_Synonym__c":"hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux; hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux; hereditary sensory and autonomic neuropathy type ib; hereditary sensory neuropathy type ib; hsan with cough and gastroesophageal reflux; hsan1b; hsan1b - hereditary sensory and autonomic neuropathy type 1b; neuropathy, hereditary sensory, type ib","Name":"Hereditary sensory and autonomic neuropathy type 1B","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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:139564"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330880","Source__c":"C1842586","Xref__c":"MEDGEN:330880"},{"URL__c":"https://www.orpha.net/en/disease/detail/139564","Source__c":"C1842586; MONDO:0011961; ORPHA:139564","Xref__c":"ORPHA:139564"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564296","Source__c":"MONDO:0011961","Xref__c":"C564296"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070148","Source__c":"MONDO:0011961","Xref__c":"DOID:0070148"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717825008","Source__c":"C1842586; MONDO:0011961","Xref__c":"717825008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842586","Source__c":"C1842586","Xref__c":"C1842586"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011961","Source__c":"GARD:0016958","Xref__c":"MONDO:0011961"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Peripheral Neuropathy"]},"synonyms":["hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux"," hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux"," hereditary sensory and autonomic neuropathy type ib"," hereditary sensory neuropathy type ib"," hsan with cough and gastroesophageal reflux"," hsan1b"," hsan1b - hereditary sensory and autonomic neuropathy type 1b"," neuropathy, hereditary sensory, type ib"]}