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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"
Sturge-Weber syndrome
Encephalofacial angiomatosis · Encephalotrigeminal angiomatosis
22q11.2 deletion syndrome
22q11DS · CATCH 22
Craniofrontonasal dysplasia-Poland anomaly syndrome
Webster-Deming syndrome
Multiple endocrine neoplasia type 1
MEN1 · Wermer syndrome
Parkes Weber syndrome
Weaver syndrome
EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2
Werner syndrome
Adult progeria · WS