{"Name":"Combined oxidative phosphorylation deficiency","DiseaseID__c":"GARD:0012893","id":12893,"encodedName":"combined-oxidative-phosphorylation-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Combined oxidative phosphorylation deficiency","Xref_IDs__c":"C4540031; DOID:0060286; MEDGEN:1626645; MONDO:0000732; OMIMPS:609060","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":1,"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":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0000732","Disease_Description__c":"A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.","GARD_Name__c":"Combined oxidative phosphorylation deficiency","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"GARD:0012893","Curated_Disease_Description__c":"Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome is a disease that affects many parts of the body. It is inherited in an autosomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:314051","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000732","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":"Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome is a disease that affects many parts of the body. It is inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0012893","Name":"Combined oxidative phosphorylation deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012893","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS609060","Source__c":"MONDO:0000732","Xref__c":"OMIMPS:609060"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060286","Source__c":"MONDO:0000732","Xref__c":"DOID:0060286"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4540031","Source__c":"C4540031","Xref__c":"C4540031"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1626645","Source__c":"C4540031","Xref__c":"MEDGEN:1626645"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000732","Source__c":"GARD:0012893","Xref__c":"MONDO:0000732"}],"Inheritance__c":["Mitochondrial inheritance"],"tags":{"Cause":["Genetics","Mitochondrial"],"Disease Category":["Genetics","Mitochondrial"],"Specialist":["Genetics"],"Account":["Mitochondrial"]},"synonyms":[""]}