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"

7 matching diseasesClear search ×

X-linked Charcot-Marie-Tooth disease type 5

CMT5X · CMTX5

ORPHA:99014

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2

ORPHA:64746

Charcot-Marie-Tooth disease type 1

Autosomal dominant demyelinating Charcot-Marie-Tooth disease · CMT1

ORPHA:65753

Charcot-Marie-Tooth disease type 4

AR-CMT1 · Autosomal recessive demyelinating Charcot-Marie-Tooth

ORPHA:64749

Cutis marmorata telangiectatica congenita

CMTC

ORPHA:1556

Hereditary motor and sensory neuropathy type 6

CMT6 · Charcot-Marie-Tooth disease type 6

ORPHA:90120

X-linked Charcot-Marie-Tooth disease

CMTX · X-linked hereditary motor and sensory neuropathy

ORPHA:64747