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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
SURF1-related Charcot-Marie-Tooth disease type 4
CMT4K · Charcot-Marie-Tooth disease type 4K
Autosomal dominant Charcot-Marie-Tooth disease type 2DD
CMT2DD · ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
DNAJB2-related Charcot-Marie-Tooth disease type 2
DNAJB2-related CMT2
MGP-related spondyloepiphyseal dysplasia
MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome
PMP2-related Charcot-Marie-Tooth disease type 1
PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1