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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"
Blomstrand lethal chondrodysplasia
BLC · BOCD
Cantú syndrome
Hypertrichotic osteochondrodysplasia · Congenital hypertrichosis-coarse facial features spectrum
Complex lethal osteochondrodysplasia
Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type
Lethal chondrodysplasia
Nail-patella syndrome
Onychoosteodysplasia · Turner-Kieser syndrome
OBSOLETE: Hypertrichotic osteochondrodysplasia
Odontochondrodysplasia
Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia