{"Name":"Neuropathy with hearing impairment","DiseaseID__c":"GARD:0019919","id":19919,"encodedName":"neuropathy-with-hearing-impairment","IsDeleted":false,"Disease_Name_Full__c":"Neuropathy with hearing impairment","Xref_IDs__c":"723497003; C4509933; MEDGEN:1375726; MONDO:0015351; ORPHA:139512","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015351","Disease_Description__c":"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.","GARD_Name__c":"Neuropathy with hearing impairment","GARD_Synonym__c":"peripheral neuropathy with sensorineural hearing impairment syndrome","Curated_Disease_Description_Source__c":"MONDO:0015351","Curated_Disease_Description__c":"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:139512","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015351","ORPHANET_ID__c":"ORPHA:139512","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía con discapacidad auditiva","Spanish_Description_Source__c":"ORPHA:139512","Spanish_Description__c":"Este síndrome se caracteriza por la asociación de un deterioro auditivo neurosensorial y neuropatía periférica.","Spanish_Disease_Name__c":"neuropatía con discapacidad auditiva","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":"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.","Curated_Disease_Description_Source__c":"MONDO:0015351","GARD_Synonym__c":"peripheral neuropathy with sensorineural hearing impairment syndrome","Name":"Neuropathy with hearing impairment","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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"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:139512"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/139512","Source__c":"C4509933; MONDO:0015351; ORPHA:139512","Xref__c":"ORPHA:139512"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4509933","Source__c":"C4509933","Xref__c":"C4509933"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1375726","Source__c":"C4509933","Xref__c":"MEDGEN:1375726"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723497003","Source__c":"C4509933; MONDO:0015351","Xref__c":"723497003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015351","Source__c":"GARD:0019919","Xref__c":"MONDO:0015351"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJB3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjb3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Otolaryngology","Neuromuscular medicine"],"Account":["Peripheral Neuropathy"]},"synonyms":["peripheral neuropathy with sensorineural hearing impairment syndrome"]}