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
Term information
- Orphanet:65753 (MONDO:equivalentTo)
- SCTID:398040009 (MONDO:equivalentTo)
- GARD:12433 (Orphanet:65753)
- DOID:0050538 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/6877
https://github.com/monarch-initiative/mondo/issues/6752
http://purl.obolibrary.org/obo/DOID_0050538
http://www.orpha.net/ORDO/Orphanet_65753
http://identifiers.org/snomedct/398040009