obsolete_Barth syndrome true MGA2 OMIM:302060 Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. Cardioskeletal myopathy with neutropenia and abnormal mitochondria orphanet Cardioskeletal myopathy-neutropenia Replaced with Mondo term. BTHS X-linked cardioskeletal myopathy and neutropenia 3.41.0 ICD10:E71.1 UMLS:C0574083 3-methylglutaconic aciduria type 2 http://purl.obolibrary.org/obo/MONDO_0010543 MedDRA:10078537 MESH:D056889