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"

14 matching diseasesClear search ×

Charcot-Marie-Tooth disease type 4B2

CMT4B2

ORPHA:99956

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 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

Charcot-Marie-Tooth disease type 4J

CMT4J

ORPHA:139515

SURF1-related Charcot-Marie-Tooth disease type 4

CMT4K · Charcot-Marie-Tooth disease type 4K

ORPHA:391351

X-linked Charcot-Marie-Tooth disease type 4

CMT4X · CMTX4

ORPHA:101078