Barth syndrome
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
MONDO:0009637
inborn mitochondrial myopathy
is_a
MONDO:0015134
constitutional neutropenia
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0016333
familial dilated cardiomyopathy
is_a
MONDO:0017359
3-methylglutaconic aciduria
is_a
MONDO:0018117
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a
3-methylglutaconic aciduria type 2
exact
3-methylglutaconic aciduria type II
related
BTHS
exact
Barth syndrome
exact
Barth syndrome, X-linked recessive
exact
MGA2
exact
TAZ defect
related
X-linked cardioskeletal myopathy and neutropenia
exact
cardioskeletal myopathy with neutropenia and abnormal mitochondria
exact
cardioskeletal myopathy-neutropenia syndrome
exact