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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"
Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive sensory radicular neuropathy · HSAN2
Hajdu-Cheney syndrome
Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible
Neurogenic thoracic outlet syndrome
NTOS · Neurogenic TOS