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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"
Intravascular large B-cell lymphoma
Angioendotheliomatosis proliferans systemisata · Angiotropic large cell lymphoma
Erythroderma desquamativum
Leiner disease
Hyperkeratosis lenticularis perstans
Flegel disease
Panner disease
Aseptic necrosis of the capital humerus · Osteochondrosis of the capital humerus
Steinert myotonic dystrophy
Myotonic dystrophy type 1 · Steinert disease
Tangier disease
ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia