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"

148 matching diseasesClear search ×

Spinocerebellar ataxia type 8

SCA8

ORPHA:98760

TNP03-related limb-girdle muscular dystrophy D2

LGMD1F · Autosomal dominant limb-girdle muscular dystrophy type 1F

ORPHA:55595

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia

ORPHA:231226

X-linked spinocerebellar ataxia type 4

SCAX4 · X-linked ataxia-dementia syndrome

ORPHA:85292