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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"
Distal hereditary motor neuropathy
Distal spinal muscular atrophy · dHMN
Hereditary optic neuropathy
Hereditary sensory and autonomic neuropathy
HSAN
Hereditary thermosensitive neuropathy
Leber hereditary optic neuropathy
LHON · Leber optic atrophy
Syndromic hereditary optic neuropathy