{"Name":"Maternally-inherited mitochondrial dystonia","DiseaseID__c":"GARD:0020767","id":20767,"encodedName":"maternally-inherited-mitochondrial-dystonia","IsDeleted":false,"Disease_Name_Full__c":"Maternally-inherited mitochondrial dystonia","Xref_IDs__c":"717054001; C4274074; MEDGEN:907850; MONDO:0016806; ORPHA:254851","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016806","Disease_Description__c":"Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.","GARD_Name__c":"Maternally-inherited mitochondrial dystonia","GARD_Synonym__c":"maternally inherited mitochondrial dystonia; mitochondrial dna-related dystonia; mtdna-related dystonia","Curated_Disease_Description_Source__c":"ORPHA:254851","Curated_Disease_Description__c":"Mitochondrial DNA-related dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:254851","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016806","ORPHANET_ID__c":"ORPHA:254851","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía asociada al adn mitocondrial","Spanish_Description_Source__c":"ORPHA:254851","Spanish_Description__c":"La distonía mitocondrial de herencia materna es un trastorno neurológico poco frecuente relacionado con el ADN mitocondrial, clínicamente caracterizado por una distonía progresiva de aparición pediátrica con grados variables de gravedad.","Spanish_Disease_Name__c":"distonía asociada al adn mitocondrial","Spanish_GARD_Synonym__c":"distonía asociada al adnmt; distonía mitocondrial de herencia materna","Category_Linearization__c":"ORPHA:68367","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":"Mitochondrial DNA-related dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.","Curated_Disease_Description_Source__c":"ORPHA:254851","GARD_Synonym__c":"maternally inherited mitochondrial dystonia; mitochondrial dna-related dystonia; mtdna-related dystonia","Name":"Maternally-inherited mitochondrial dystonia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:254851"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/254851","Source__c":"C4274074; MONDO:0016806; ORPHA:254851","Xref__c":"ORPHA:254851"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=907850","Source__c":"C4274074","Xref__c":"MEDGEN:907850"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717054001","Source__c":"C4274074; MONDO:0016806","Xref__c":"717054001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274074","Source__c":"C4274074","Xref__c":"C4274074"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016806","Source__c":"GARD:0020767","Xref__c":"MONDO:0016806"}],"Inheritance__c":["Mitochondrial inheritance"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["maternally inherited mitochondrial dystonia"," mitochondrial dna-related dystonia"," mtdna-related dystonia"]}