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"

73 matching diseasesClear search ×

Rare genetic optic nerve disorder

ORPHA:522512

Rare genetic palpebral disorder

ORPHA:522526

Rare genetic parkinsonian disorder

Rare genetic hypokinetic movement disorder

ORPHA:307052

Rare genetic renal disease

ORPHA:98056

Rare genetic respiratory disease

ORPHA:156610

Rare genetic retinal disorder

ORPHA:522572

Rare genetic skin disease

Rare genodermatosis

ORPHA:68346

Rare genetic thyroid disease

ORPHA:183631

Rare genetic tremor disorder

ORPHA:307061

Rare genetic tumor

ORPHA:68336

Rare genetic urogenital disease

ORPHA:156619

Rare genetic vascular disease

ORPHA:233655

Rare hemorrhagic disorder

Rare bleeding disorder

ORPHA:248308

Rare hyperkinetic movement disorder

ORPHA:494457

Rare macular disorder

ORPHA:519313

Rare movement disorder

ORPHA:102003

Rare ophthalmic disorder

ORPHA:97966

Rare optic nerve disorder

ORPHA:519351

Rare palpebral disorder

ORPHA:98560

Rare parkinsonian disorder

Rare hypokinetic movement disorder

ORPHA:68402

Rare retinal disorder

ORPHA:519315

Rare scleral disorder

ORPHA:519298

Rare sleep disorder

ORPHA:68354

Rare tremor disorder

ORPHA:306712

Unclassified genetic skin disorder

ORPHA:79385