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"

33 matching diseasesClear search ×

Acquired skeletal muscle disease

ORPHA:206638

Genetic skeletal muscle disease

ORPHA:206634

Rare abdominal surgical disease

ORPHA:165711

Rare adrenal disease

ORPHA:101954

Rare allergic disease

Rare allergy

ORPHA:98050

Rare bone development disorder

Rare skeletal development disorder

ORPHA:139012

Rare bone disease

ORPHA:93419

Rare cardiac disease

ORPHA:97929

Rare disorder of the lacrimal apparatus

Rare lacrimal system disease

ORPHA:98602

Rare endocrine disease

ORPHA:97978

Rare genetic bone development disorder

Rare genetic skeletal development disorder

ORPHA:404584

Rare genetic disease

ORPHA:98053

Rare genetic renal disease

ORPHA:98056

Rare genetic skin disease

Rare genodermatosis

ORPHA:68346

Rare genetic urogenital disease

ORPHA:156619

Rare hepatic disease

ORPHA:57146

Rare immune disease

ORPHA:98004

Rare inborn errors of metabolism

Rare metabolic disease

ORPHA:68367

Rare intestinal disease

ORPHA:117569

Rare lens disease

ORPHA:98639

Rare neoplastic disease

Rare tumoral disease

ORPHA:250908

Rare parasitic disease

ORPHA:163588

Rare pulmonary disease

ORPHA:101944

Rare renal disease

ORPHA:93626

Rare renal tubular disease

ORPHA:93603

Rare skin disease

ORPHA:89826

Rare surgical cardiac disease

ORPHA:97965

Rare surgical thoracic disease

ORPHA:97962

Rare systemic disease

ORPHA:182222

Rare thyroid disease

ORPHA:101955

Rare urogenital disease

ORPHA:101433

Rare vascular disease

ORPHA:68362

Rare viral disease

ORPHA:163585