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"

7 matching diseasesClear search ×

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

ORPHA:308487

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

ORPHA:79239

Crigler-Najjar syndrome

Bilirubin uridinediphosphate glucuronosyltransferase deficiency · Bilirubin-UGT deficiency

ORPHA:205

Erythrocyte galactose epimerase deficiency

Erythrocyte GALE deficiency · Erythrocyte GALE-D

ORPHA:308473

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

ORPHA:79238

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

P5N deficiency · UMPH1 deficiency

ORPHA:35120

Hereditary orotic aciduria

Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency

ORPHA:30