{"Name":"Charcot-Marie-Tooth disease type 2","DiseaseID__c":"GARD:0012431","id":12431,"encodedName":"charcot-marie-tooth-disease-type-2","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease type 2","Xref_IDs__c":"715665006; C0270914; DOID:0050539; MEDGEN:124378; MONDO:0018993; ORPHA:64746","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018993","Disease_Description__c":"A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.","GARD_Name__c":"Charcot-Marie-Tooth disease type 2","GARD_Synonym__c":"autosomal dominant axonal charcot-marie-tooth disease; autosomal dominant charcot-marie-tooth disease type 2; charcot marie tooth disease, type 2; charcot-marie-tooth disease, type ii; charcot-marie-tooth, type 2; cmt2; hereditary motor and sensory neuropathy guadalajara neuronal type; hereditary motor and sensory neuropathy okinawa type; hereditary motor and sensory neuropathy type 2; hereditary motor and sensory neuropathy type ii; inherited neuronal peroneal muscular atrophy; peroneal muscular atrophy of neuronal type","Curated_Disease_Description_Source__c":"MONDO:0018993","Curated_Disease_Description__c":"A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:64746","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018993","ORPHANET_ID__c":"ORPHA:64746","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth autosómica dominante tipo 2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2","Spanish_GARD_Synonym__c":"cmt2; enfermedad de charcot-marie-tooth axonal autosómica dominante; neuropatía sensitivo-motora hereditaria tipo 2","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":"A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.","Curated_Disease_Description_Source__c":"MONDO:0018993","GARD_Synonym__c":"autosomal dominant axonal charcot-marie-tooth disease; autosomal dominant charcot-marie-tooth disease type 2; charcot marie tooth disease, type 2; charcot-marie-tooth disease, type ii; charcot-marie-tooth, type 2; cmt2; hereditary motor and sensory neuropathy guadalajara neuronal type; hereditary motor and sensory neuropathy okinawa type; hereditary motor and sensory neuropathy type 2; hereditary motor and sensory neuropathy type ii; inherited neuronal peroneal muscular atrophy; peroneal muscular atrophy of neuronal type","Name":"Charcot-Marie-Tooth disease type 2","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Charcot-Marie-Tooth Association Australia Inc.","Website__c":"https://www.cmt.org.au"},{"Account_Name__c":"Charcot-Marie-Tooth Association","Website__c":"https://www.cmtausa.org/"},{"Account_Name__c":"Charcot-Marie-Tooth UK","Website__c":"https://www.cmt.org.uk/"}],"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":"All ages","Provided_By__c":"ORPHA:64746"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0270914","Source__c":"C0270914","Xref__c":"C0270914"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715665006","Source__c":"MONDO:0018993","Xref__c":"715665006"},{"URL__c":"https://www.orpha.net/en/disease/detail/64746","Source__c":"C0270914; MONDO:0018993","Xref__c":"ORPHA:64746"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124378","Source__c":"C0270914","Xref__c":"MEDGEN:124378"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050539","Source__c":"MONDO:0018993","Xref__c":"DOID:0050539"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=398187000","Source__c":"C0270914","Xref__c":"398187000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018993","Source__c":"GARD:0012431","Xref__c":"MONDO:0018993"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant axonal charcot-marie-tooth disease"," autosomal dominant charcot-marie-tooth disease type 2"," charcot marie tooth disease, type 2"," charcot-marie-tooth disease, type ii"," charcot-marie-tooth, type 2"," cmt2"," hereditary motor and sensory neuropathy guadalajara neuronal type"," hereditary motor and sensory neuropathy okinawa type"," hereditary motor and sensory neuropathy type 2"," hereditary motor and sensory neuropathy type ii"," inherited neuronal peroneal muscular atrophy"," peroneal muscular atrophy of neuronal type"]}