{"Name":"Coenzyme Q10 deficiency","DiseaseID__c":"GARD:0010423","id":10423,"encodedName":"coenzyme-q10-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Coenzyme Q10 deficiency","Xref_IDs__c":"724575009; C142083; C1843920; C564403; DOID:0050730; MEDGEN:334528; MONDO:0018151; OMIMPS:607426; ORPHA:35656","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018151","Disease_Description__c":"A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.","GARD_Name__c":"Coenzyme Q10 deficiency","GARD_Synonym__c":"coenzyme q10 deficiency disease; coenzyme q10 deficiency, primary; coq10 deficiency","Curated_Disease_Description_Source__c":"MONDO:0018151","Curated_Disease_Description__c":"A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:35656","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018151","ORPHANET_ID__c":"ORPHA:35656","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de coenzima q10","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de coenzima q10","Spanish_GARD_Synonym__c":"deficiencia de coq10; deficiencia primaria de coenzima q10; deficiencia primaria de ubiquinona","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":"A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.","Curated_Disease_Description_Source__c":"MONDO:0018151","GARD_Synonym__c":"coenzyme q10 deficiency disease; coenzyme q10 deficiency, primary; coq10 deficiency","Name":"Coenzyme Q10 deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.org/"},{"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":"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":"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"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":"All ages","Provided_By__c":"ORPHA:35656"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1843920"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843920","Source__c":"C1843920","Xref__c":"C1843920"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334528","Source__c":"C1843920","Xref__c":"MEDGEN:334528"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724575009","Source__c":"C1843920; MONDO:0018151","Xref__c":"724575009"},{"URL__c":"https://www.orpha.net/en/disease/detail/35656","Source__c":"C1843920; MONDO:0018151; ORPHA:35656","Xref__c":"ORPHA:35656"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C142083","Source__c":"C1843920; MONDO:0018151","Xref__c":"C142083"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050730","Source__c":"MONDO:0018151","Xref__c":"DOID:0050730"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564403","Source__c":"MONDO:0018151","Xref__c":"C564403"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS607426","Source__c":"MONDO:0018151","Xref__c":"OMIMPS:607426"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018151","Source__c":"GARD:0010423","Xref__c":"MONDO:0018151"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK410087","Source__c":"Gene Review","Xref__c":"NBK410087"},{"URL__c":"https://medlineplus.gov/genetics/condition/primary-coenzyme-q10-deficiency"},{"URL__c":"https://medlineplus.gov/genetics/condition/primary-coenzyme-q10-deficiency","Source__c":"GARD:0010423","Xref__c":"https://medlineplus.gov/genetics/condition/primary-coenzyme-q10-deficiency"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Epilepsy","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial","Peripheral Neuropathy","Epilepsy"]},"synonyms":["coenzyme q10 deficiency disease"," coenzyme q10 deficiency, primary"," coq10 deficiency"]}