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"

21 matching diseasesClear search ×

MEND syndrome

Male EBP disorder with neurological defects

ORPHA:401973

Rare choroidal disorder

ORPHA:519309

Rare corneal disorder

ORPHA:519282

Rare dystonia

Rare dystonic disorder

ORPHA:68363

Rare genetic neurological disorder

ORPHA:71859

Rare genetic optic nerve disorder

ORPHA:522512

Rare genetic retinal disorder

ORPHA:522572

Rare hemorrhagic disorder

Rare bleeding disorder

ORPHA:248308

Rare macular disorder

ORPHA:519313

Rare movement disorder

ORPHA:102003

Rare neurologic disease

Rare nervous system disease

ORPHA:98006

Rare oculomotor nerve disorder

ORPHA:98685

Rare ophthalmic disorder

ORPHA:97966

Rare optic nerve disorder

ORPHA:519351

Rare palpebral disorder

ORPHA:98560

Rare retinal disorder

ORPHA:519315

Rare scleral disorder

ORPHA:519298

Rare sleep disorder

ORPHA:68354

Rare tremor disorder

ORPHA:306712

Rare trochlear nerve disorder

ORPHA:519353

X-linked immunoneurologic disorder

Woods-Black-Norbury syndrome

ORPHA:2571