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"

10,911 rare diseases

Rare metabolic liver disease

ORPHA:101940

Rare mitochondrial non-syndromic sensorineural deafness

Isolated mitochondrial neurosensory deafness · Isolated mitochondrial sensorineural deafness

ORPHA:90641

Rare movement disorder

ORPHA:102003

Rare mucosal lichen planus

Rare mucosal LP

ORPHA:254373

Rare mycosis

ORPHA:163591

Rare myoclonus

ORPHA:306747

Rare nail tumor

ORPHA:300515

Rare neoplastic disease

Rare tumoral disease

ORPHA:250908

Rare nervous system tumor

Rare nervous system neoplasm

ORPHA:98062

Rare neurodegenerative disease

ORPHA:182070

Rare neuroinflammatory or neuroimmunological disease

ORPHA:182064

Rare neurologic disease with psychiatric involvement

ORPHA:98033

Rare neuromuscular disorder with ocular motility/alignment anomaly

ORPHA:519347

Rare nevus

ORPHA:294057

Rare non surgically correctable form of primary aldosteronism

ORPHA:231641

Rare non-acquired premature ovarian failure

ORPHA:95710

Rare non-malformative breast disease

ORPHA:180202

Rare non-malformative gynecologic or obstetric disease

ORPHA:180199

Rare non-malformative uterine adnexal disease

ORPHA:180303

Rare non-malformative uterovaginal or vulvovaginal disease

ORPHA:180205

Rare non-syndromic genetic deafness

ORPHA:87884

Rare non-syndromic intellectual disability

Rare NSID

ORPHA:101685

Rare ocular motility/alignment disorder

ORPHA:519355

Rare oculomotor nerve disorder

ORPHA:98685

Rare odontal or periodontal disorder

ORPHA:164001

Rare odontogenic tumor

ORPHA:314425

Rare odontologic disease

ORPHA:98026

Rare ophthalmic disorder

ORPHA:97966

Rare ophthalmic disorder with cortical involvement

ORPHA:519343

Rare ophthalmic disorder with cranial nerve involvement

ORPHA:519349

Rare optic nerve disorder

ORPHA:519351

Rare otorhinolaryngologic disease

ORPHA:98036

Rare otorhinolaryngologic tumor

Rare ORL cancer · Rare ORL neoplasm

ORPHA:98061

Rare otorhinolaryngological malformation

ORPHA:96333

Rare ovarian cancer

Rare ovarian malignant tumor

ORPHA:213500

Rare palpebral disorder

ORPHA:98560

Rare pancreatic disease

ORPHA:101937

Rare parasitic disease

ORPHA:163588

Rare parathyroid disease and phosphocalcic metabolism anomaly

ORPHA:68415

Rare parathyroid tumor

ORPHA:100090

Rare parenchymal liver disease

ORPHA:101939

Rare parkinsonian disorder

Rare hypokinetic movement disorder

ORPHA:68402

Rare parkinsonian syndrome due to genetic neurodegenerative disease

ORPHA:307055

Rare parkinsonian syndrome due to intoxication

ORPHA:306679

Rare parkinsonian syndrome due to neurodegenerative disease

ORPHA:306666

Rare paroxysmal movement disorder

ORPHA:306768

Rare pediatric rheumatologic disease

ORPHA:486955

Rare pediatric systemic disease

ORPHA:280373