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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"
Hajdu-Cheney syndrome
Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible
Albers-Schönberg osteopetrosis
Osteopetrosis autosomal dominant type 2
Autosomal dominant osteopetrosis type 1
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type
Endosteal hyperostosis, Worth type
Autosomal dominant osteosclerosis, Worth type · Worth syndrome
Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive sensory radicular neuropathy · HSAN2