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"

36 matching diseasesClear search ×

OBSOLETE: Pediatric Castleman disease

ORPHA:93682

Pediatric arterial ischemic stroke

Childhood AIS · Childhood arterial ischemic stroke

ORPHA:439175

Pediatric hepatocellular carcinoma

Childhood-onset HCC · Childhood-onset hepatocellular carcinoma

ORPHA:33402

Pediatric-onset Graves disease

Pediatric-onset Basedow disease

ORPHA:525731

Rare adrenal disease

ORPHA:101954

Rare allergic disease

Rare allergy

ORPHA:98050

Rare bone disease

ORPHA:93419

Rare cardiac disease

ORPHA:97929

Rare genetic bone disease

ORPHA:183524

Rare genetic cardiac disease

ORPHA:98054

Rare genetic disease

ORPHA:98053

Rare genetic eye disease

Rare genetic ophthalmologic disease

ORPHA:101435

Rare genetic renal disease

ORPHA:98056

Rare genetic skin disease

Rare genodermatosis

ORPHA:68346

Rare hematologic disease

ORPHA:97992

Rare hepatic disease

ORPHA:57146

Rare immune disease

ORPHA:98004

Rare inborn errors of metabolism

Rare metabolic disease

ORPHA:68367

Rare lens disease

ORPHA:98639

Rare neoplastic disease

Rare tumoral disease

ORPHA:250908

Rare neurologic disease

Rare nervous system disease

ORPHA:98006

Rare odontologic disease

ORPHA:98026

Rare pancreatic disease

ORPHA:101937

Rare parasitic disease

ORPHA:163588

Rare pediatric rheumatologic disease

ORPHA:486955

Rare pediatric systemic disease

ORPHA:280373

Rare pediatric vasculitis

ORPHA:280369

Rare pulmonary disease

ORPHA:101944

Rare renal disease

ORPHA:93626

Rare rheumatologic disease

ORPHA:182231

Rare skin disease

ORPHA:89826

Rare systemic disease

ORPHA:182222

Rare teratologic disease

Acquired embryofetopathy

ORPHA:52662

Rare thyroid disease

ORPHA:101955

Rare vascular disease

ORPHA:68362

Rare viral disease

ORPHA:163585