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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"
Hip dysplasia, Beukes type
BFHD · Beukes familial hip dysplasia
DICER1 tumor-predisposition syndrome
PPBFTDS · Pleuropulmonary blastoma familial tumor and dysplasia syndrome
Familial developmental dysphasia
Billard-Toutain-Maheut syndrome · FOXP2-associated dysphasia
Pelviscapular dysplasia
Cousin syndrome · Familial pelvis-scapular dysplasia