{"Name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease","DiseaseID__c":"GARD:0012436","id":12436,"encodedName":"autosomal-dominant-intermediate-charcot-marie-tooth-disease","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant intermediate Charcot-Marie-Tooth disease","Xref_IDs__c":"C5680178; MEDGEN:1826161; MONDO:0019548; ORPHA:90114","USA_Estimate__c":null,"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":null,"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":3,"Description_Source__c":"MONDO:0019548","Disease_Description__c":"Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.","GARD_Name__c":"Autosomal dominant intermediate Charcot-Marie-Tooth disease","GARD_Synonym__c":"cmtdi; intermediate charcot-marie-tooth disease, autosomal dominant","Curated_Disease_Description_Source__c":"MONDO:0019548","Curated_Disease_Description__c":"Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:90114","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019548","ORPHANET_ID__c":"ORPHA:90114","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth intermedia autosómica dominante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth intermedia autosómica dominante","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":"Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.","Curated_Disease_Description_Source__c":"MONDO:0019548","GARD_Synonym__c":"cmtdi; intermediate charcot-marie-tooth disease, autosomal dominant","Name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease","estimateUsa":""}],"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":"Childhood","Provided_By__c":"ORPHA:90114"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:90114"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:90114"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1826161","Source__c":"C5680178","Xref__c":"MEDGEN:1826161"},{"URL__c":"https://www.orpha.net/en/disease/detail/90114","Source__c":"C5680178; MONDO:0019548; ORPHA:90114","Xref__c":"ORPHA:90114"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680178","Source__c":"C5680178","Xref__c":"C5680178"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019548","Source__c":"GARD:0012436","Xref__c":"MONDO:0019548"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["cmtdi"," intermediate charcot-marie-tooth disease, autosomal dominant"]}