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"

64 matching diseasesClear search ×

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 2 due to DGAT2 mutation

CMT2 due to DGAT2 mutation

ORPHA:487814

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

CMT2 due to KIF5A mutation

ORPHA:324611

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

CMT2 due to TFG mutation

ORPHA:435819

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons · CMT2 with giant axons

ORPHA:401964

Autosomal dominant Charcot-Marie-Tooth disease type 2A1

CMT2A1

ORPHA:99946

Autosomal dominant Charcot-Marie-Tooth disease type 2A2

CMT2A2

ORPHA:99947

Autosomal dominant Charcot-Marie-Tooth disease type 2B

CMT2B

ORPHA:99936

Autosomal dominant Charcot-Marie-Tooth disease type 2C

CMT2C

ORPHA:99937

Autosomal dominant Charcot-Marie-Tooth disease type 2D

CMT2D

ORPHA:99938

Autosomal dominant Charcot-Marie-Tooth disease type 2DD

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

ORPHA:521414

Autosomal dominant Charcot-Marie-Tooth disease type 2E

CMT2E

ORPHA:99939

Autosomal dominant Charcot-Marie-Tooth disease type 2F

CMT2F

ORPHA:99940

Autosomal dominant Charcot-Marie-Tooth disease type 2G

CMT2G

ORPHA:99941

Autosomal dominant Charcot-Marie-Tooth disease type 2I

CMT2I

ORPHA:99942

Autosomal dominant Charcot-Marie-Tooth disease type 2J

CMT2J

ORPHA:99943

Autosomal dominant Charcot-Marie-Tooth disease type 2K

CMT2K

ORPHA:99944

Autosomal dominant Charcot-Marie-Tooth disease type 2L

CMT2L

ORPHA:99945

Autosomal dominant Charcot-Marie-Tooth disease type 2M

CMT2M

ORPHA:228179

Autosomal dominant Charcot-Marie-Tooth disease type 2N

CMT2N

ORPHA:228174

Autosomal dominant Charcot-Marie-Tooth disease type 2O

CMT2O

ORPHA:284232

Autosomal dominant Charcot-Marie-Tooth disease type 2Q

CMT2Q

ORPHA:329258

Autosomal dominant Charcot-Marie-Tooth disease type 2U

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation · CMT2U

ORPHA:397735

Autosomal dominant Charcot-Marie-Tooth disease type 2V

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation · CMT2V

ORPHA:447964

Autosomal dominant Charcot-Marie-Tooth disease type 2W

CMT2W · Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation

ORPHA:488333

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

CMT2 due to VCP mutation · CMT2Y

ORPHA:435387

Autosomal dominant Charcot-Marie-Tooth disease type 2Z

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation · CMT2Z

ORPHA:466768

Autosomal recessive Charcot-Marie-Tooth disease type 2X

CMT2X · Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation

ORPHA:466775

Charcot-Marie-Tooth disease type 2H

CMT2H · AR-CMT2C

ORPHA:101102

Charcot-Marie-Tooth disease type 2P

CMT2P

ORPHA:300319

Charcot-Marie-Tooth disease type 2R

CMT2R

ORPHA:397968

Charcot-Marie-Tooth disease type 2S

CMT2S

ORPHA:443073

Charcot-Marie-Tooth disease type 2T

CMT2T · AR-CMT2T

ORPHA:495274

Autosomal dominant intermediate Charcot-Marie-Tooth disease

CMTDI

ORPHA:90114

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 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 4

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

ORPHA:64749

Charcot-Marie-Tooth disease type 4A

CMT4A

ORPHA:99948

Charcot-Marie-Tooth disease type 4C

CMT4C

ORPHA:99949