Rare Disease Library

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"

4 matching diseasesClear search ×

Mixed sclerosing bone dystrophy with extra-skeletal manifestations

ORPHA:324364

Melorheostosis with osteopoikilosis

MSBD syndrome · Mixed sclerosing bone dystrophy

ORPHA:1879

Posterior polymorphous corneal dystrophy

PPCD · Posterior polymorphous dystrophy

ORPHA:98973

Primary bone dysplasia with increased bone density

Primary osteodysplasia with increased bone density · Primary skeletal dysplasia with increased bone density

ORPHA:93444