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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"
Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Melorheostosis with osteopoikilosis
MSBD syndrome · Mixed sclerosing bone dystrophy
Posterior polymorphous corneal dystrophy
PPCD · Posterior polymorphous dystrophy
Primary bone dysplasia with increased bone density
Primary osteodysplasia with increased bone density · Primary skeletal dysplasia with increased bone density