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"

14 matching diseasesClear search ×

Beta-mercaptolactate cysteine disulfiduria

Ampola syndrome · MCDU

ORPHA:1035

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ORPHA:79327

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ORPHA:79324

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ORPHA:79326

ALG3-CDG

CDG syndrome type Id · CDG-Id

ORPHA:79321

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ORPHA:79320

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ORPHA:79325

ALG9-CDG

CDG syndrome type IL · CDG1L

ORPHA:79328

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

ORPHA:79322

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

ORPHA:382

Hypermethioninemia due to glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency

ORPHA:289891

Lipoyl transferase 1 deficiency

ORPHA:401862

Lipoyl transferase 2 deficiency

ORPHA:447795

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

ORPHA:832