has material basis in germline mutation in TAFAZZIN inborn mitochondrial myopathy Barth syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome https://www.malacards.org/card/barth_syndrome MESH:D056889 X-linked cardioskeletal myopathy and neutropenia MGA2 SCTID:297231002 Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. Barth syndrome, X-linked recessive cardioskeletal myopathy-neutropenia syndrome cardioskeletal myopathy with neutropenia and abnormal mitochondria NCIT:C84585 OMIM:302060 Orphanet:111 3-Methylglutaconic aciduria, type 2 GARD:0005890 3-methylglutaconic aciduria type II NANDO:1200991 UMLS:C0574083 icd11.foundation:452199926 NANDO:2200751 DOID:0050476 BTHS MONDO:0010543 NORD:840 MEDGEN:107893 3-methylglutaconic aciduria type 2 TAZ defect Mga, type 2 BARTH syndrome Barth syndrome ICD10CM:E78.71 constitutional neutropenia syndromic dyslipidemia familial dilated cardiomyopathy 3-methylglutaconic aciduria disorder of phospholipids, sphingolipids and fatty acids biosynthesis