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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"
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome
Ichthyosis-prematurity syndrome
Congenital ichthyosis type 4 · IPS
Primary bone dysplasia with increased bone density
Primary osteodysplasia with increased bone density · Primary skeletal dysplasia with increased bone density