{"Name":"Inborn organic aciduria","DiseaseID__c":"GARD:0009433","id":9433,"encodedName":"inborn-organic-aciduria","IsDeleted":false,"Disease_Name_Full__c":"Inborn organic aciduria","Xref_IDs__c":"C0241775; C101334; DOID:0060159; MEDGEN:66037; MONDO:0000688; ORPHA:289899","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0000688","Disease_Description__c":"An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.","GARD_Name__c":"Inborn organic aciduria","GARD_Synonym__c":"inborn error of organic acid metabolic process; inborn organic acid metabolic process disorder; inherited organic acidemia; organic acidemia; organic aciduria; rare inborn error of organic acid metabolic process","Curated_Disease_Description_Source__c":"MONDO:0000688","Curated_Disease_Description__c":"An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:289899","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000688","ORPHANET_ID__c":"ORPHA:289899","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aciduria orgánica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"aciduria orgánica","Spanish_GARD_Synonym__c":null,"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":"An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.","Curated_Disease_Description_Source__c":"MONDO:0000688","GARD_Synonym__c":"inborn error of organic acid metabolic process; inborn organic acid metabolic process disorder; inherited organic acidemia; organic acidemia; organic aciduria; rare inborn error of organic acid metabolic process","Name":"Inborn organic aciduria","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Organic Acidemia Association","Website__c":"https://oaanews.org/"},{"Account_Name__c":"flok","Website__c":"https://flok.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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1263739"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060159","Source__c":"MONDO:0000688","Xref__c":"DOID:0060159"},{"URL__c":"https://www.orpha.net/en/disease/detail/289899","Source__c":"MONDO:0000688","Xref__c":"ORPHA:289899"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=66037","Source__c":"C0241775","Xref__c":"MEDGEN:66037"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0241775","Source__c":"C0241775","Xref__c":"C0241775"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C101334","Source__c":"MONDO:0000688","Xref__c":"C101334"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000688","Source__c":"GARD:0009433","Xref__c":"MONDO:0000688"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001992","Source__c":"C0241775","Xref__c":"HP:0001992"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics"]},"synonyms":["inborn error of organic acid metabolic process"," inborn organic acid metabolic process disorder"," inherited organic acidemia"," organic acidemia"," organic aciduria"," rare inborn error of organic acid metabolic process"]}