Rare Disease Library

Discoid lupus erythematosus

Discrete fibromuscular subaortic stenosis

Discrete fixed membranous subaortic stenosis

Discrete papular lichen myxedematosus

Disease associated with non-acquired combined pituitary hormone deficiency

Disease with diffuse palmoplantar keratoderma as a major feature

Disease with diffuse palmoplantar hyperkeratosis as a major feature

Disease with focal palmoplantar keratoderma as a major feature

Disease with focal palmoplantar hyperkeratosis as a major feature

Disease with punctate palmoplantar keratoderma as a major feature

Disease with punctate palmoplantar hyperkeratosis as a major feature

Dislocation of the hip-dysmorphism syndrome

Collins-Pope syndrome

Disorder of amino acid absorption and transport

Disorder of amino acid and other organic acid metabolism

Disorder of asparagine metabolism

Disorder of beta and omega amino acid metabolism

Disorder of bile acid synthesis

Disorder of bilirubin metabolism and excretion

Disorder of biogenic amine metabolism and transport

Disorder of branched-chain amino acid metabolism

Disorder of carbohydrate absorption and transport

Disorder of carbohydrate metabolism

Disorder of carnitine cycle and carnitine transport

Disorder of catecholamine synthesis

Disorder of cobalamin metabolism and transport

Disorder of copper metabolism

Disorder of energy metabolism

Disorder of fatty acid oxidation and ketogenesis

Disorder of fatty acid oxidation and ketone body metabolism

Disorder of folate metabolism and transport

Disorder of fructose metabolism

Disorder of fucoglycosan synthesis

Disorder of galactose metabolism

Disorder of gamma-aminobutyric acid metabolism

Disorder of GABA metabolism

Disorder of glutamine metabolism

Disorder of glycerol metabolism

Disorder of glycolysis

Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

Disorder of glycosphingolipid and GPI-anchored proteins glycosylation

Disorder of glyoxylate metabolism

Disorder of histidine metabolism

Disorder of iron metabolism and transport

Disorder of ketolysis

Disorder of keton body transport

Disorder of lipid absorption and transport

Disorder of lipid metabolism

Disorder of lysine and hydroxylysine metabolism

Disorder of lysosomal amino acid transport

Disorder of lysosomal-related organelles

Disorder of magnesium transport

Disorder of manganese transport

Disorder of melanin metabolism