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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"
Axonal hereditary motor and sensory neuropathy
Axonal HMSN
Adult Refsum disease
Classic Refsum disease · HMSN 4
Dejerine-Sottas syndrome
Charcot-Marie-Tooth disease type 3 · HMSN 3
Hereditary motor and sensory neuropathy type 5
Charcot-Marie-Tooth disease-pyramidal features syndrome · HMSN 5
Hereditary motor and sensory neuropathy type 6
CMT6 · Charcot-Marie-Tooth disease type 6