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"

26 matching diseasesClear search ×

Rare parkinsonian disorder

Rare hypokinetic movement disorder

Psychogenic movement disorders

Psychogenic dystonia

Rare bone development disorder

Rare skeletal development disorder

Rare choreic movement disorder

Rare dystonia

Rare dystonic disorder

Rare genetic bone development disorder

Rare genetic skeletal development disorder

Rare genetic coagulation disorder

Rare genetic corneal disorder

Rare genetic disorder with entropion

Rare genetic dystonia

Rare genetic dystonic disorder

Rare genetic hyperkinetic movement disorder

Rare genetic macular disorder

Rare genetic movement disorder

Rare genetic ocular motility/alignment disorder

Rare genetic optic nerve disorder

Rare genetic palpebral disorder

Rare genetic parkinsonian disorder

Rare genetic hypokinetic movement disorder

Rare genetic retinal disorder

Rare genetic tremor disorder

Rare hemorrhagic disorder

Rare bleeding disorder

Rare hyperkinetic movement disorder

Rare macular disorder

Rare movement disorder

Rare optic nerve disorder

Rare paroxysmal movement disorder

Rare retinal disorder