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"

80 matching diseasesClear search ×

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

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

Charcot-Marie-Tooth disease type 4J

CMT4J

ORPHA:139515

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

ORPHA:64748

DNAJB2-related Charcot-Marie-Tooth disease type 2

DNAJB2-related CMT2

ORPHA:443950

Hereditary motor and sensory neuropathy type 5

Charcot-Marie-Tooth disease-pyramidal features syndrome · HMSN 5

ORPHA:64751

Hereditary motor and sensory neuropathy type 6

CMT6 · Charcot-Marie-Tooth disease type 6

ORPHA:90120

Hereditary motor and sensory neuropathy with acrodystrophy

AR-CMT2 with acrodystrophy · Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy

ORPHA:90119

Intermediate Charcot-Marie-Tooth disease

Intermediate CMT · Intermediate hereditary motor and sensory neuropathy

ORPHA:476123

Metabolic disease with intestinal involvement

ORPHA:104013

Metabolic disease with skin involvement

ORPHA:79387

PMP2-related Charcot-Marie-Tooth disease type 1

PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1

ORPHA:476394

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