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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"
Acrodysplasia scoliosis
Prata-Liberal-Goncalves syndrome · Brachydactyly-scoliosis-carpal fusion syndrome
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Liberfarb syndrome