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"

100 matching diseasesClear search ×

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

ORPHA:85414

Tropical endomyocardial fibrosis

Davies disease · TEMF

ORPHA:75565

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

ORPHA:892

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome

ORPHA:2442

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