Sengers syndrome
Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.
MONDO:0016801
mitochondrial substrate carrier disorder
is_a
MONDO:0018117
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a
MONDO:0018158
mitochondrial DNA depletion syndrome
is_a
MONDO:0100547
cardiogenetic disease
is_a
Sengers syndrome
exact
cardiomyopathic mitochondrial DNA depletion syndrome 10
related
cataract and cardiomyopathy
related
mitochondrial DNA depletion syndrome 10
exact
SPBC1347.04