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"

9 matching diseasesClear search ×

Charcot-Marie-Tooth disease type 2B5

SEOAN due to NEFL deficiency · AR-CMT2B5

ORPHA:228374

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2

ORPHA:64746

Autosomal dominant Charcot-Marie-Tooth disease type 2B

CMT2B

ORPHA:99936

Autosomal recessive axonal hereditary motor and sensory neuropathy

AR-CMT2 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2

ORPHA:91024

Charcot-Marie-Tooth disease type 2B1

AR-CMT2B1 · Autosomal recessive Charcot-Marie-Tooth disease type 2B1

ORPHA:98856

Charcot-Marie-Tooth disease type 2B2

AR-CMT2B2 · Autosomal recessive axonal CMT4C3

ORPHA:101101

Charcot-Marie-Tooth disease type 2H

CMT2H · AR-CMT2C

ORPHA:101102

Charcot-Marie-Tooth disease type 2T

CMT2T · AR-CMT2T

ORPHA:495274

Charcot-Marie-Tooth disease type 4

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

ORPHA:64749