{"Name":"Collagen 6-related myopathy","DiseaseID__c":"GARD:0012705","id":12705,"encodedName":"collagen-6-related-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Collagen 6-related myopathy","Xref_IDs__c":"CN117976; MEDGEN:468393; MONDO:0100225","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0100225","Disease_Description__c":"A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.","GARD_Name__c":"Collagen 6-related myopathy","GARD_Synonym__c":"collagen vi-related dystrophy; collagen vi-related muscle disorder; collagen vi-related muscular dystrophy; collagen vi-related myopathy","Curated_Disease_Description_Source__c":"MONDO:0100225","Curated_Disease_Description__c":"A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100225","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.","Curated_Disease_Description_Source__c":"MONDO:0100225","GARD_Synonym__c":"collagen vi-related dystrophy; collagen vi-related muscle disorder; collagen vi-related muscular dystrophy; collagen vi-related myopathy","Name":"Collagen 6-related myopathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Cure CMD - Congenital Muscular Dystrophy","Website__c":"https://www.curecmd.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1503","Source__c":"Gene Review","Xref__c":"NBK1503"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100225","Source__c":"GARD:0012705","Xref__c":"MONDO:0100225"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=468393","Source__c":"CN117976","Xref__c":"MEDGEN:468393"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN117976","Source__c":"CN117976","Xref__c":"CN117976"},{"URL__c":"https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy"}],"tags":{},"synonyms":["collagen vi-related dystrophy"," collagen vi-related muscle disorder"," collagen vi-related muscular dystrophy"," collagen vi-related myopathy"]}