Additional Disease Briefs

Get Information about a Rare Disease

Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

Interested in exploring the database in detail?
Click here to explore the database in alphabetical order.

NORD Summit 2026 Banner Ad
Rare Disease Database Reports Additional Rare Disease Briefs
Charcot-Marie-Tooth disease recessive intermediate B

Also known as: CMTRIB, Charcot-Marie-Tooth disease caused by mutation in KARS, Charcot-Marie-Tooth disease recessive intermediate type B, Charcot-Marie-Tooth disease, recessive Intermediate type B, Charcot-Marie-Tooth disease, recessive intermediate B, Charcot-Marie-Tooth disease, recessive intermediate, B, Charcot-Marie-Tooth neuropathy recessive intermediate B, Charcot-Marie-Tooth neuropathy, recessive Intermediate B, KARS Charcot-Marie-Tooth disease, RI-CMT type B, RI-CMTB, autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Charcot-Marie-Tooth disease recessive intermediate C

Also known as: CMTRIC, Charcot-Marie-Tooth disease caused by mutation in PLEKHG5, Charcot-Marie-Tooth disease recessive intermediate type C, Charcot-Marie-Tooth disease, recessive Intermediate type C, Charcot-Marie-Tooth disease, recessive intermediate C, Charcot-Marie-Tooth neuropathy, recessive Intermediate C, PLEKHG5 Charcot-Marie-Tooth disease, RI-CMT type C, RI-CMTC, autosomal recessive intermediate Charcot-Marie-Tooth disease type C

Charcot-Marie-Tooth disease recessive intermediate D

Also known as: CMTRID, COX6A1 Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease caused by mutation in COX6A1, Charcot-Marie-Tooth disease recessive intermediate type D, Charcot-Marie-Tooth disease, recessive Intermediate type D, Charcot-Marie-Tooth disease, recessive intermediate D, RI-CMT type D, autosomal recessive intermediate Charcot-Marie-Tooth disease type D

Charcot-Marie-Tooth disease type 1

Also known as: CMT1, Charcot-Marie-Tooth neuropathy type 1, Charcot-Marie-Tooth type 1, autosomal dominant demyelinating Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathy type 1

Charcot-Marie-Tooth disease type 1A

Also known as: CMT 1A, CMT1A, Charcot Marie Tooth disease type 1A, Charcot-Marie-Tooth disease type 1A, Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A, Charcot-Marie-Tooth disease, demyelinating, type 1A, Charcot-Marie-Tooth disease, type 1A, Charcot-Marie-Tooth neuropathy type 1A, Charcot-Marie-Tooth neuropathy, type 1A, Charcot-Marie-Tooth syndrome type 1A, HMSN 1A, HMSN1A, autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A, hereditary motor and sensory neuropathy 1A, microduplication 17p12

Charcot-Marie-Tooth disease type 1B

Also known as: CMT 1B, CMT1B, Charcot Marie Tooth disease type 1B, Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy, Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ, Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B, Charcot-Marie-Tooth disease, demyelinating, type 1B, Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy, Charcot-Marie-Tooth disease, type 1B, Charcot-Marie-Tooth neuropathy type 1B, Charcot-Marie-Tooth neuropathy, type 1B, HMSN 1B, HMSN IB, HMSN1, HMSN1B, MPZ Charcot-Marie-Tooth disease type 1, autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B, hereditary motor and sensory neuropathy 1, hereditary motor and sensory neuropathy 1B, hereditary motor and sensory neuropathy IB

Charcot-Marie-Tooth disease type 1C

Also known as: CMT 1C, CMT slow nerve conduction type C, CMT, slow nerve conduction type C, CMT1C, Charcot Marie Tooth disease type 1C, Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF, Charcot-Marie-Tooth disease, demyelinating, type 1C, Charcot-Marie-Tooth disease, type 1C, Charcot-Marie-Tooth neuropathy type 1C, Charcot-Marie-Tooth neuropathy, type 1C, HMSN 1C, HMSN IC, HMSN1C, LITAF Charcot-Marie-Tooth disease type 1, neuropathy hereditary motor and sensory type 1C, neuropathy, hereditary motor and sensory, type 1C

Charcot-Marie-Tooth disease type 1D

Also known as: CMT 1D, CMT1D, Charcot Marie Tooth disease type 1D, Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2, Charcot-Marie-Tooth disease, demyelinating, type 1D, Charcot-Marie-Tooth disease, type 1D, Charcot-Marie-Tooth neuropathy type 1D, Charcot-Marie-Tooth neuropathy, type 1D, EGR2 Charcot-Marie-Tooth disease type 1, HMSN 1D, HMSN ID, HMSN1D, hereditary motor and sensory neuropathy 1D

Charcot-Marie-Tooth disease type 1E

Also known as: CMT 1E, CMT1E, Charcot Marie Tooth disease type 1E, Charcot-Marie-Tooth disease and deafness, Charcot-Marie-Tooth disease demyelinating type 1E, Charcot-Marie-Tooth disease, demyelinating, type 1E, Charcot-Marie-Tooth disease, type 1E, Charcot-Marie-Tooth disease-deafness, Charcot-Marie-Tooth disease-deafness syndrome, Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant, autosomal dominant Charcot-Marie-Tooth neuropathy and deafness

Charcot-Marie-Tooth disease type 1F

Also known as: CMT 1F, CMT1F, Charcot Marie Tooth disease type 1F, Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL, Charcot-Marie-Tooth disease, demyelinating, type 1F, Charcot-Marie-Tooth disease, type 1F, Charcot-Marie-Tooth neuropathy type 1F, Charcot-Marie-Tooth neuropathy, type 1F, NEFL Charcot-Marie-Tooth disease type 1

  2. 1
  3. ...
  4. 193
  5. 194
  6. 195
  7. 196
  8. 197
  9. 198
  10. 199
  11. ...
  12. 1032