{"Name":"Hereditary sensory and autonomic neuropathy with deafness and global delay","DiseaseID__c":"GARD:0019920","id":19920,"encodedName":"hereditary-sensory-and-autonomic-neuropathy-with-deafness-and-global-delay","IsDeleted":false,"Disease_Name_Full__c":"Hereditary sensory and autonomic neuropathy with deafness and global delay","Xref_IDs__c":"717826009; C4303566; MEDGEN:929235; MONDO:0015354; ORPHA:139573","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015354","Disease_Description__c":"This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.","GARD_Name__c":"Hereditary sensory and autonomic neuropathy with deafness and global delay","GARD_Synonym__c":"hereditary sensory and autonomic neuropathy with hearing loss and global delay; hsan (hereditary sensory and autonomic neuropathy) with deafness and global delay; hsan with deafness and global delay; hsan with hearing loss and global delay","Curated_Disease_Description_Source__c":"MONDO:0015354","Curated_Disease_Description__c":"This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:139573","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015354","ORPHANET_ID__c":"ORPHA:139573","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía sensitiva autonómica hereditaria con sordera y retraso global","Spanish_Description_Source__c":"ORPHA:139573","Spanish_Description__c":"Este síndrome se caracteriza por una neuropatía sensitiva axonal y autonómica, sordera neurosensitiva y retraso persistente en el desarrollo.","Spanish_Disease_Name__c":"neuropatía sensitiva autonómica hereditaria con sordera y retraso global","Spanish_GARD_Synonym__c":"neuropatía sensitiva autonómica hereditaria con hipoacusia y retraso global; nsah con hipoacusia y retraso global; nsah con sordera y retraso global","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":"This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.","Curated_Disease_Description_Source__c":"MONDO:0015354","GARD_Synonym__c":"hereditary sensory and autonomic neuropathy with hearing loss and global delay; hsan (hereditary sensory and autonomic neuropathy) with deafness and global delay; hsan with deafness and global delay; hsan with hearing loss and global delay","Name":"Hereditary sensory and autonomic neuropathy with deafness and global delay","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:139573"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:139573"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303566","Source__c":"C4303566","Xref__c":"C4303566"},{"URL__c":"https://www.orpha.net/en/disease/detail/139573","Source__c":"C4303566; MONDO:0015354; ORPHA:139573","Xref__c":"ORPHA:139573"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929235","Source__c":"C4303566","Xref__c":"MEDGEN:929235"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717826009","Source__c":"C4303566; MONDO:0015354","Xref__c":"717826009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015354","Source__c":"GARD:0019920","Xref__c":"MONDO:0015354"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["hereditary sensory and autonomic neuropathy with hearing loss and global delay"," hsan (hereditary sensory and autonomic neuropathy) with deafness and global delay"," hsan with deafness and global delay"," hsan with hearing loss and global delay"]}