Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

8 matching diseasesClear search ×

Disorder of methionine cycle and sulfur amino acid metabolism

Cytosolic methyl group transfer or sulfur amino acid metabolism disorder

ORPHA:79173

Disorder of amino acid and other organic acid metabolism

ORPHA:79062

Disorder of beta and omega amino acid metabolism

ORPHA:308407

Disorder of biogenic amine metabolism and transport

ORPHA:79214

Disorder of branched-chain amino acid metabolism

ORPHA:79197

Disorder of cobalamin metabolism and transport

ORPHA:79171

Disorder of gamma-aminobutyric acid metabolism

Disorder of GABA metabolism

ORPHA:79175

Disorder of sialic acid metabolism

ORPHA:309319