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 ×

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

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 1

CMT1X · CMTX1

ORPHA:101075

X-linked Charcot-Marie-Tooth disease type 2

CMTX2

ORPHA:101076

X-linked Charcot-Marie-Tooth disease type 3

CMT3X · CMTX3

ORPHA:101077

X-linked Charcot-Marie-Tooth disease type 4

CMT4X · CMTX4

ORPHA:101078

X-linked Charcot-Marie-Tooth disease type 5

CMT5X · CMTX5

ORPHA:99014

X-linked Charcot-Marie-Tooth disease type 6

CMT6X · CMTX6

ORPHA:352675