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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"
Hypertrichosis-acromegaloid facial appearance syndrome
HAFF · Hypertrichosis-acromegaloid facial features syndrome
Lamb-Shaffer syndrome
SOX5 haploinsufficiency syndrome
Potocki-Shaffer syndrome
11p11.2 deletion · Proximal 11p deletion syndrome