{"Name":"Reducing body myopathy","DiseaseID__c":"GARD:0012162","id":12162,"encodedName":"reducing-body-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Reducing body myopathy","Xref_IDs__c":"42779002; C0270970; DOID:0080090; MEDGEN:543081; MONDO:0019948; ORPHA:97239","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":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0019948","Disease_Description__c":"Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.","GARD_Name__c":"Reducing body myopathy","GARD_Synonym__c":"reducing-body myopathy","Curated_Disease_Description_Source__c":"MONDO:0019948","Curated_Disease_Description__c":"Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:97239","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019948","ORPHANET_ID__c":"ORPHA:97239","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía con inclusiones reductoras","Spanish_Description_Source__c":"ORPHA:97239","Spanish_Description__c":"La miopatía con cuerpos reductores (MCR) es una enfermedad muscular rara caracterizada por una debilidad muscular progresiva y por la presencia de cuerpos de inclusión característicos en las fibras musculares afectadas.","Spanish_Disease_Name__c":"miopatía con inclusiones reductoras","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":"Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.","Curated_Disease_Description_Source__c":"MONDO:0019948","GARD_Synonym__c":"reducing-body myopathy","Name":"Reducing body myopathy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"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":"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":"Adult","Provided_By__c":"ORPHA:97239"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:97239"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:97239"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012162","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=42779002","Source__c":"C0270970; MONDO:0019948","Xref__c":"42779002"},{"URL__c":"https://www.orpha.net/en/disease/detail/97239","Source__c":"C0270970; MONDO:0019948; ORPHA:97239","Xref__c":"ORPHA:97239"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=543081","Source__c":"C0270970","Xref__c":"MEDGEN:543081"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080090","Source__c":"MONDO:0019948","Xref__c":"DOID:0080090"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0270970","Source__c":"C0270970","Xref__c":"C0270970"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019948","Source__c":"GARD:0012162","Xref__c":"MONDO:0019948"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FHL1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fhl1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["reducing-body myopathy"]}