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"

59 matching diseasesClear search ×

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

ORPHA:583

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

ORPHA:217382

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

ORPHA:308604

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset · OBSOLETE: GSD type 2, juvenile onset

ORPHA:308573

Prolidase deficiency

Hyperimidodipeptiduria

ORPHA:742

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

ORPHA:760

Pyruvate dehydrogenase E1-alpha deficiency

PDHAD · Pyruvate decarboxylase deficiency

ORPHA:79243

Sanfilippo syndrome type B

MPS3B · MPSIIIB

ORPHA:79270

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant

ORPHA:845

TCR-alpha-beta-positive T-cell deficiency

TCR-alpha-beta+ T-cell deficiency

ORPHA:397959

Trehalase deficiency

Isolated trehalose intolerance

ORPHA:103909