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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"
CNTNAP2-related developmental and epileptic encephalopathy
CDFE syndrome · CDFES
PMP2-related Charcot-Marie-Tooth disease type 1
PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1
SYNGAP1-related developmental and epileptic encephalopathy
SYNGAP1-related DEE