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"

16 matching diseasesClear search ×

Charcot-Marie-Tooth disease type 4

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

ORPHA:64749

Autosomal recessive axonal hereditary motor and sensory neuropathy

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

ORPHA:91024

Autosomal recessive centronuclear myopathy

AR-CNM

ORPHA:169186

Charcot-Marie-Tooth disease type 1

Autosomal dominant demyelinating Charcot-Marie-Tooth disease · CMT1

ORPHA:65753

Charcot-Marie-Tooth disease type 1A

CMT1A · Microduplication 17p12

ORPHA:101081

Charcot-Marie-Tooth disease type 1B

CMT1B

ORPHA:101082

Charcot-Marie-Tooth disease type 1C

CMT1C

ORPHA:101083

Charcot-Marie-Tooth disease type 1D

CMT1D

ORPHA:101084

Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease-hearing loss syndrome · CMT1E

ORPHA:90658

Charcot-Marie-Tooth disease type 1F

CMT1F

ORPHA:101085

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 2B5

SEOAN due to NEFL deficiency · AR-CMT2B5

ORPHA:228374

Charcot-Marie-Tooth disease type 2H

CMT2H · AR-CMT2C

ORPHA:101102

Charcot-Marie-Tooth disease type 2T

CMT2T · AR-CMT2T

ORPHA:495274

X-linked Charcot-Marie-Tooth disease type 1

CMT1X · CMTX1

ORPHA:101075