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 pediatric vasculitis

ORPHA:280369

Rare peripheral precocious puberty

ORPHA:178040

Rare peripheral precocious puberty in female

ORPHA:650187

Rare photodermatosis

Rare skin photosensitivity

ORPHA:79390

Rare precocious puberty

ORPHA:95708

Rare precocious puberty in female

ORPHA:435561

Rare primary hyperaldosteronism

Rare primary aldosteronism

ORPHA:181415

Rare pulmonary disease

ORPHA:101944

Rare pulmonary hypertension

ORPHA:71198

Rare refraction anomaly

ORPHA:98618

Rare renal disease

ORPHA:93626

Rare renal tubular disease

ORPHA:93603

Rare renal tumor

ORPHA:93619

Rare respiratory disease

ORPHA:97955

Rare respiratory tumor

Rare respiratory cancer · Rare respiratory neoplasm

ORPHA:98060

Rare retinal disorder

ORPHA:519315

Rare retinal vasculopathy

ORPHA:519317

Rare rheumatologic disease

ORPHA:182231

Rare scleral disorder

ORPHA:519298

Rare scleritis

ORPHA:648559

Rare skin disease

ORPHA:89826

Rare skin tumor or hamartoma

ORPHA:79386

Rare sleep disorder

ORPHA:68354

Rare soft tissue tumor

Rare mesenchymal tumor

ORPHA:71209

Rare surgical cardiac disease

ORPHA:97965

Rare surgical thoracic disease

ORPHA:97962

Rare surgically correctable form of primary aldosteronism

ORPHA:231637

Rare syndrome with cardiac malformations

ORPHA:156532

Rare syndromic dyslipidemia

ORPHA:181437

Rare syndromic genetic deafness

Rare syndromic genetic hearing loss

ORPHA:90642

Rare syndromic intellectual disability

ORPHA:102369

Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome

ORPHA:611314

Rare systemic disease

ORPHA:182222

Rare systemic or rheumatologic disease

ORPHA:98023

Rare systemic or rheumatological disease of childhood

ORPHA:280342

Rare teratologic disease

Acquired embryofetopathy

ORPHA:52662

Rare thrombotic disease of hematologic origin

ORPHA:182054

Rare thrombotic disorder due to a coagulation factors defect

ORPHA:248358

Rare thrombotic disorder due to a constitutional coagulation factors defect

ORPHA:248361

Rare thrombotic disorder due to a constitutional platelet anomaly

ORPHA:248401

Rare thrombotic disorder due to a platelet anomaly

ORPHA:248368

Rare thrombotic disorder due to an acquired coagulation factors defect

ORPHA:248365

Rare thrombotic disorder due to an acquired platelet anomaly

ORPHA:248404

Rare thyroid carcinoma

ORPHA:100088

Rare thyroid disease

ORPHA:101955

Rare thyroid tumor

ORPHA:100087

Rare tremor disorder

ORPHA:306712

Rare trochlear nerve disorder

ORPHA:519353