Rare Disease Library

Disorder of metabolite absorption and transport

Disorder of methionine cycle and sulfur amino acid metabolism

Cytosolic methyl group transfer or sulfur amino acid metabolism disorder

Disorder of mineral absorption and transport

Disorder of multiple glycosylation

Disorder of neurotransmitter metabolism and transport

Disorder of neutral amino acid transport

Disorder of O-mannosylglycan synthesis

Disorder of O-N-acetylgalactosaminylglycan synthesis

Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis

Disorder of O-xylosylglycan synthesis

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 peroxisomal alpha-, beta- and omega-oxidation

Disorder of phenylalanin or tyrosine metabolism

Disorder of phenylalanine metabolism

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement

Disorder of plasmalogens biosynthesis

Disorder of porphyrin and heme metabolism

Disorder of proline metabolism

Disorder of protein N-glycosylation

Disorder of protein O-glycosylation

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 the gamma-glutamyl cycle

Disorder of thiamine metabolism and transport

Disorder of tryptophan metabolism

Disorder of tyrosine metabolism

Disorder of urea cycle metabolism and ammonia detoxification

Disorder of vitamin and non-protein cofactor absorption and transport

Disorder of zinc metabolism and transport

Disorder with multisystemic involvement and glomerulopathy

Disorder with multisystemic involvement and primary lymphedema

Disorder with optic nerve compression

Disorders of pentose/polyol metabolism

Disorders of vitamin D metabolism

Dissecting cellulitis of the scalp

Disseminated peritoneal leiomyomatosis

DPL · Diffuse peritoneal leiomyomatosis