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"

56 matching diseasesClear search ×

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

Reticular dysgenesis

AK2 deficiency · De Vaal disease

ORPHA:33355

Sanfilippo syndrome type B

MPS3B · MPSIIIB

ORPHA:79270

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

ORPHA:277

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