abetalipoproteinemia
Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.
MONDO:0003689
familial hemolytic anemia
is_a
MONDO:0005020
intestinal disorder
is_a
MONDO:0017774
hypobetalipoproteinemia
is_a
MONDO:0020044
autosomal recessive metabolic cerebellar ataxia
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
ABL
related
Bassen Kornzweig syndrome
related
Bassen-Kornzweig disease
exact
Betalipoprotein deficiency disease
related
abetalipoproteinemia
exact
abetalipoproteinemia neuropathy
related
apolipoprotein B deficiency
related
congenital betalipoprotein deficiency syndrome
related
homozygous familial hypobetalipoproteinemia
exact