Rare Disease Library

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Abetalipoproteinemia

Bassen-Kornzweig disease · Homozygous familial hypobetalipoproteinemia

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

Dubin-Johnson syndrome

Dubin-Sprinz disease · Hyperbilirubinemia type 2

Familial Hyperalphalipoproteinemia

Hyperlipoproteinemia type 1

HLP type 1

Hyperlysinemia

Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency

Hyperprolinemia type 1

Proline oxidase deficiency

Hyperprolinemia type 2

Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

Hypoalphalipoproteinemia

Hypobetalipoproteinemia

OBSOLETE: Cholesterol-ester transfer protein deficiency

OBSOLETE: CEPT deficiency · OBSOLETE: Familial hyperalphalipoproteinemia type I

OBSOLETE: Combined hyperlipidemia

OBSOLETE: Mixed hyperlipidemia · OBSOLETE: Mixed hyperlipoproteinemia

OBSOLETE: Hyperlipoproteinemia type 5

OBSOLETE: HLP type 5 · OBSOLETE: Major hyperlipidemia

Rotor syndrome

Hyperbilirubinemia, Rotor type

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Tyrosinemia type 3

Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency