{"Name":"Charcot-Marie-Tooth disease type X","DiseaseID__c":"GARD:0012444","id":12444,"encodedName":"charcot-marie-tooth-disease-type-x","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease type X","Xref_IDs__c":"230552007; C4551551; DOID:0050542; MEDGEN:1637021; MONDO:0018994; ORPHA:64747","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","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":0,"Description_Source__c":"MONDO:0018994","Disease_Description__c":"A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.","GARD_Name__c":"Charcot-Marie-Tooth disease type X","GARD_Synonym__c":"cmtx; cowck; x-linked charcot-marie-tooth disease; x-linked hereditary motor and sensory neuropathy","Curated_Disease_Description_Source__c":"MONDO:0018994","Curated_Disease_Description__c":"A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:64747","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018994","ORPHANET_ID__c":"ORPHA:64747","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth ligada al cromosoma x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth ligada al cromosoma x","Spanish_GARD_Synonym__c":"cmtx; neuropatía hereditaria sensitivo-motora ligada al cromosoma x","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 subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.","Curated_Disease_Description_Source__c":"MONDO:0018994","GARD_Synonym__c":"cmtx; cowck; x-linked charcot-marie-tooth disease; x-linked hereditary motor and sensory neuropathy","Name":"Charcot-Marie-Tooth disease type X","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CMT Research Foundation","Website__c":"https://cmtrf.org/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"ACMT-Rete per la malattia di Charcot-Marie-Tooth","Website__c":"https://www.acmt-rete.it/"},{"Account_Name__c":"Fondazione Telethon","Website__c":"https://www.fondazionetelethon.it/"},{"Account_Name__c":"Hereditary Neuropathy Foundation Inc.","Website__c":"https://www.hnf-cure.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"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":"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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/64747","Source__c":"C4551551; MONDO:0018994; ORPHA:64747","Xref__c":"ORPHA:64747"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1637021","Source__c":"C4551551","Xref__c":"MEDGEN:1637021"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230552007","Source__c":"C4551551; MONDO:0018994","Xref__c":"230552007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050542","Source__c":"MONDO:0018994","Xref__c":"DOID:0050542"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551551","Source__c":"C4551551","Xref__c":"C4551551"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018994","Source__c":"GARD:0012444","Xref__c":"MONDO:0018994"}],"Inheritance__c":["X-linked recessive","X-linked dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Neuromuscular medicine"],"Account":["Peripheral Neuropathy"]},"synonyms":["cmtx"," cowck"," x-linked charcot-marie-tooth disease"," x-linked hereditary motor and sensory neuropathy"]}