Rare Disease Library

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Dubin-Johnson syndrome

Dubin-Sprinz disease · Hyperbilirubinemia type 2

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Hyperlipidemia due to hepatic lipase deficiency · Hyperlipidemia due to HL deficiency

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

OBSOLETE: Combined hyperlipidemia

OBSOLETE: Mixed hyperlipidemia · OBSOLETE: Mixed hyperlipoproteinemia

OBSOLETE: Hyperlipoproteinemia type 5

OBSOLETE: HLP type 5 · OBSOLETE: Major hyperlipidemia

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

FHHNC without severe ocular involvement · HOMG3

Rare hyperlipidemia

Rare hypolipidemia

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

Tyrosinemia type 3

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