Parent term(s)
lipid metabolism disorder
+
Term with siblings
steroid inherited metabolic disorder +
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
very long chain acyl-CoA dehydrogenase deficiency
Child term(s)
apparent mineralocorticoid excess syndrome
congenital adrenal hyperplasia
congenital bile acid synthesis defect
+
cytochrome P450 oxidoreductase deficiency
denotes an 'is-a' relationship