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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
Cantú syndrome
Hypertrichotic osteochondrodysplasia · Congenital hypertrichosis-coarse facial features spectrum
OBSOLETE: Hypertrichotic osteochondrodysplasia
Blomstrand lethal chondrodysplasia
BLC · BOCD
Complex lethal osteochondrodysplasia
Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type
Hypochondroplasia
Odontochondrodysplasia
Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia