Rare Disease Library

Disorder of branched-chain amino acid metabolism

Disorder of carbohydrate metabolism

Disorder of cobalamin metabolism and transport

Disorder of copper metabolism

Disorder of energy metabolism

Disorder of fatty acid oxidation and ketone body metabolism

Disorder of folate metabolism and transport

Disorder of fructose metabolism

Disorder of galactose metabolism

Disorder of gamma-aminobutyric acid metabolism

Disorder of GABA metabolism

Disorder of glutamine metabolism

Disorder of glycerol metabolism

Disorder of glyoxylate metabolism

Disorder of histidine metabolism

Disorder of iron metabolism and transport

Disorder of lipid metabolism

Disorder of lysine and hydroxylysine metabolism

Disorder of melanin metabolism

Disorder of methionine cycle and sulfur amino acid metabolism

Cytosolic methyl group transfer or sulfur amino acid metabolism disorder

Disorder of neurotransmitter metabolism and transport

Disorder of ornithine metabolism

Disorder of ornithine or proline metabolism

Disorder of other vitamins and cofactors metabolism and transport

Disorder of pentose phosphate metabolism

Disorder of peptide metabolism

Disorder of phenylalanin or tyrosine metabolism

Disorder of phenylalanine metabolism

Disorder of porphyrin and heme metabolism

Disorder of proline metabolism

Disorder of pterin metabolism

Disorder of purine metabolism

Disorder of purine or pyrimidine metabolism

Disorder of pyridoxine metabolism

Disorder of pyrimidine metabolism

Disorder of serine or glycine metabolism

Disorder of sialic acid metabolism

Disorder of thiamine metabolism and transport

Disorder of tryptophan metabolism

Disorder of tyrosine metabolism

Disorder of urea cycle metabolism and ammonia detoxification

Disorder of zinc metabolism and transport

Disorders of pentose/polyol metabolism

Disorders of vitamin D metabolism

Dyschromatosis universalis hereditaria

Dysplasia epiphysealis hemimelica

Trevor disease

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

Energy metabolism disorder with epilepsy

EPHB4-related lymphatic-related hydrops fetalis

EPHB4-related generalized lymphatic dysplasia with atrial septal defect · EPHB4-related LRHF/GLD