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"

54 matching diseasesClear search ×

X-linked Charcot-Marie-Tooth disease type 1

CMT1X · CMTX1

ORPHA:101075

X-linked Charcot-Marie-Tooth disease type 2

CMTX2

ORPHA:101076

X-linked Charcot-Marie-Tooth disease type 3

CMT3X · CMTX3

ORPHA:101077

X-linked Charcot-Marie-Tooth disease type 4

CMT4X · CMTX4

ORPHA:101078

X-linked Charcot-Marie-Tooth disease type 5

CMT5X · CMTX5

ORPHA:99014

X-linked Charcot-Marie-Tooth disease type 6

CMT6X · CMTX6

ORPHA:352675