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"

19 matching diseasesClear search ×

Charcot-Marie-Tooth disease type 4J

CMT4J

ORPHA:139515

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

Charcot-Marie-Tooth disease type 4A

CMT4A

ORPHA:99948

Charcot-Marie-Tooth disease type 4B1

CMT4B1

ORPHA:99955

Charcot-Marie-Tooth disease type 4B2

CMT4B2

ORPHA:99956

Charcot-Marie-Tooth disease type 4B3

CMT4B3 · Charcot-Marie-Tooth disease with focally folded myelin

ORPHA:363981

Charcot-Marie-Tooth disease type 4C

CMT4C

ORPHA:99949

Charcot-Marie-Tooth disease type 4D

CMT4D · HMSN, Lom type

ORPHA:99950

Charcot-Marie-Tooth disease type 4E

Autosomal recessive congenital hypomyelinating neuropathy · CMT4E

ORPHA:99951

Charcot-Marie-Tooth disease type 4F

CMT4F

ORPHA:99952

Charcot-Marie-Tooth disease type 4G

CMT4G · HMSNR

ORPHA:99953

Charcot-Marie-Tooth disease type 4H

CMT4H

ORPHA:99954

Cutis marmorata telangiectatica congenita

CMTC

ORPHA:1556

Hereditary motor and sensory neuropathy type 6

CMT6 · Charcot-Marie-Tooth disease type 6

ORPHA:90120

SURF1-related Charcot-Marie-Tooth disease type 4

CMT4K · Charcot-Marie-Tooth disease type 4K

ORPHA:391351

X-linked Charcot-Marie-Tooth disease

CMTX · X-linked hereditary motor and sensory neuropathy

ORPHA:64747

X-linked Charcot-Marie-Tooth disease type 4

CMT4X · CMTX4

ORPHA:101078