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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"
Aseptic abscess syndrome
Aseptic abscesses syndrome · Aseptic systemic abscesses
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
Antisynthetase syndrome
AS syndrome · Anti-Jo1 syndrome
Ascher syndrome
Blepharochalasis-double lip syndrome
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Friedman-Goodman syndrome · FACES syndrome
Middle aortic syndrome
MAC · Coarctation of the abdominal aorta
PHACE syndrome
Pascual-Castroviejo syndrome type 2 · PHACES syndrome