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 ]

Synonyms: Charcot-Marie-Tooth neuropathy type 1 hereditary motor and sensory neuropathy type 1 CMT1 autosomal dominant demyelinating Charcot-Marie-Tooth disease

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:65753 (MONDO:equivalentTo)
  • SCTID:398040009 (MONDO:equivalentTo)
  • GARD:12433 (Orphanet:65753)
  • DOID:0050538 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6752

exactMatch

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

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

http://identifiers.org/snomedct/398040009

has related synonym

Charcot-Marie-Tooth type 1

id

MONDO:0019011

Term relations