Parent term(s)
Term with siblings
carnitine palmitoyltransferase I deficiency
carnitine palmitoyltransferase II deficiency
carnitine-acylcarnitine translocase deficiency
cholesterol-ester transfer protein deficiency +
chylomicron retention disease
CK syndrome
familial hyperlipidemia +
hypolipoproteinemia +
lipoid proteinosis
medium chain acyl-CoA dehydrogenase deficiency
MEND syndrome
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
mitochondrial trifunctional protein deficiency
multiple congenital anomalies-hypotonia-seizures syndrome +
Refsum disease
short chain acyl-CoA dehydrogenase deficiency
Smith-Lemli-Opitz syndrome
steroid inherited metabolic disorder +
very long chain acyl-CoA dehydrogenase deficiency
carnitine palmitoyltransferase I deficiency
carnitine palmitoyltransferase II deficiency
carnitine-acylcarnitine translocase deficiency
cholesterol-ester transfer protein deficiency +
chylomicron retention disease
CK syndrome
familial hyperlipidemia +
hypolipoproteinemia +
lipoid proteinosis
medium chain acyl-CoA dehydrogenase deficiency
MEND syndrome
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
mitochondrial trifunctional protein deficiency
multiple congenital anomalies-hypotonia-seizures syndrome +
Refsum disease
short chain acyl-CoA dehydrogenase deficiency
Smith-Lemli-Opitz syndrome
steroid inherited metabolic disorder +
Child term(s)
denotes an 'is-a' relationship