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"

7 matching diseasesClear search ×

Aseptic abscess syndrome

Aseptic abscesses syndrome · Aseptic systemic abscesses

ORPHA:54251

ABCD syndrome

Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome · Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome

ORPHA:918

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

ORPHA:81

Ascher syndrome

Blepharochalasis-double lip syndrome

ORPHA:1253

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

ORPHA:1969

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

ORPHA:1456

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

ORPHA:42775