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"

6 matching diseasesClear search ×

Autosomal dominant cerebellar ataxia type II

ADCA2 · ADCAII

ORPHA:208508

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

ORPHA:99

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

ORPHA:94145

Autosomal dominant cerebellar ataxia type III

ADCA3 · ADCAIII

ORPHA:94148

Autosomal dominant cerebellar ataxia type IV

ADCA4 · ADCAIV

ORPHA:94149

Autosomal dominant cutis laxa

ADCL

ORPHA:90348