{"Name":"Bile acid CoA ligase deficiency and defective amidation","DiseaseID__c":"GARD:0021041","id":21041,"encodedName":"bile-acid-coa-ligase-deficiency-and-defective-amidation","IsDeleted":false,"Disease_Name_Full__c":"Bile acid CoA ligase deficiency and defective amidation","Xref_IDs__c":"717047007; C4274079; MEDGEN:905864; MONDO:0017165; ORPHA:276066","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017165","Disease_Description__c":"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure.","GARD_Name__c":"Bile acid CoA ligase deficiency and defective amidation","GARD_Synonym__c":"bile acid coenzyme a ligase deficiency and defective amidation","Curated_Disease_Description_Source__c":"ORPHA:276066","Curated_Disease_Description__c":"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:276066","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017165","ORPHANET_ID__c":"ORPHA:276066","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de ácido biliar coa ligasa y amidación defectuosa","Spanish_Description_Source__c":"ORPHA:276066","Spanish_Description__c":"Es una anomalía de la síntesis de ácidos biliares caracterizada por malabsorción de grasas, colestasis neonatal y retraso del crecimiento.","Spanish_Disease_Name__c":"deficiencia de ácido biliar coa ligasa y amidación defectuosa","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:57146","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":"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.","Curated_Disease_Description_Source__c":"ORPHA:276066","GARD_Synonym__c":"bile acid coenzyme a ligase deficiency and defective amidation","Name":"Bile acid CoA ligase deficiency and defective amidation","estimateUsa":""}],"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:276066"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:276066"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/276066","Source__c":"C4274079; MONDO:0017165; ORPHA:276066","Xref__c":"ORPHA:276066"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=905864","Source__c":"C4274079","Xref__c":"MEDGEN:905864"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274079","Source__c":"C4274079","Xref__c":"C4274079"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717047007","Source__c":"C4274079; MONDO:0017165","Xref__c":"717047007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017165","Source__c":"GARD:0021041","Xref__c":"MONDO:0017165"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["bile acid coenzyme a ligase deficiency and defective amidation"]}