Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity. [ Orphanet:65753 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:65753 (MONDO:equivalentTo)
  • SCTID:398040009 (MONDO:equivalentTo)
  • DOID:0050538 (MONDO:equivalentTo)
  • GARD:0012433 (Orphanet-shared)
  • ICD10:G60.0 (Orphanet:65753)
Subsets

ordo_group_of_disorders

abbreviation
CMT1 [ Orphanet:65753 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C0751036

definition

Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.

exactMatch

http://purl.obolibrary.org/obo/DOID_0050538

http://www.orpha.net/ORDO/Orphanet_65753

http://identifiers.org/snomedct/398040009

has exact synonym

Charcot-Marie-Tooth neuropathy type 1

hereditary motor and sensory neuropathy type 1

CMT1

autosomal dominant demyelinating Charcot-Marie-Tooth disease

has related synonym

Charcot-Marie-Tooth type 1

id

MONDO:0019011