Rare Disease Library

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"

5 matching diseasesClear search ×

Autosomal dominant Charcot-Marie-Tooth disease type 2DD

CMT2DD · ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2

ORPHA:521414

AKT2-related familial partial lipodystrophy

AKT2-related FPLD

ORPHA:79085

DNAJB2-related Charcot-Marie-Tooth disease type 2

DNAJB2-related CMT2

ORPHA:443950

PMP2-related Charcot-Marie-Tooth disease type 1

PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1

ORPHA:476394

SURF1-related Charcot-Marie-Tooth disease type 4

CMT4K · Charcot-Marie-Tooth disease type 4K

ORPHA:391351