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"

5 matching diseasesClear search ×

Autosomal dominant cerebellar ataxia type III

ADCA3 · ADCAIII

ORPHA:94148

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

ORPHA:94145

Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome

ORPHA:363429

Cerebellar-facial-dental syndrome

Cerebellofaciodental syndrome

ORPHA:444072

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

ORPHA:2715