{"Name":"Hyaline body myopathy","DiseaseID__c":"GARD:0007148","id":7148,"encodedName":"hyaline-body-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Hyaline body myopathy","Xref_IDs__c":"CN253826; DOID:0111267; MEDGEN:922228; MONDO:0018889; ORPHA:53698","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"GARD:0007148","Disease_Description__c":"Myosin storage myopathy is an inherited condition that affects the muscles. Signs and symptoms generally begin during infancy or early childhood; however, some affected people may not develop symptoms until early adulthood and there are even reports of people who are asymptomatic into their 40s. As a result, affected people may experience delayed motor milestones (i.e. walking), trouble climbing stairs, difficulty lifting arms above shoulder level, and less commonly, breathing problems. Myosin storage myopathy is caused by changes in the MYH7 gene and is typically inherited in an autosomal dominant manner.","GARD_Name__c":"Hyaline body myopathy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"GARD:0007148","Curated_Disease_Description__c":"Hyaline body myopathy (Myosin storage myopathy) is an inherited condition that affects the muscles. Signs and symptoms generally begin during infancy or early childhood; however, some affected people may not develop symptoms until early adulthood and there are even reports of people who are asymptomatic into their 40s. As a result, affected people may experience delayed motor milestones (i.e. walking), trouble climbing stairs, difficulty lifting arms above shoulder level, and less commonly, breathing problems. Hyaline body myopathy is caused by changes in the MYH7 gene and is typically inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:53698","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018889","ORPHANET_ID__c":"ORPHA:53698","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía por almacenamiento de miosina","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía por almacenamiento de miosina","Spanish_GARD_Synonym__c":"miopatía por cuerpos hialinos","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":"Hyaline body myopathy (Myosin storage myopathy) is an inherited condition that affects the muscles. Signs and symptoms generally begin during infancy or early childhood; however, some affected people may not develop symptoms until early adulthood and there are even reports of people who are asymptomatic into their 40s. As a result, affected people may experience delayed motor milestones (i.e. walking), trouble climbing stairs, difficulty lifting arms above shoulder level, and less commonly, breathing problems. Hyaline body myopathy is caused by changes in the MYH7 gene and is typically inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0007148","Name":"Hyaline body myopathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007148","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111267","Source__c":"MONDO:0018889","Xref__c":"DOID:0111267"},{"URL__c":"https://www.orpha.net/en/disease/detail/53698","Source__c":"CN253826; MONDO:0018889","Xref__c":"ORPHA:53698"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=922228","Source__c":"CN253826","Xref__c":"MEDGEN:922228"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018889","Source__c":"GARD:0007148","Xref__c":"MONDO:0018889"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN253826","Source__c":"CN253826","Xref__c":"CN253826"},{"URL__c":"https://medlineplus.gov/genetics/condition/myosin-storage-myopathy"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":[""]}