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Charcot-Marie-Tooth disease type 2

^ http://purl.obolibrary.org/obo/MONDO_0018993

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [ PMID:25098539 DOID:0050539 http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm ]

Term info

database cross reference
  • DOID:0050539 (MONDO:equivalentTo)
  • Orphanet:64746 (MONDO:equivalentTo)
  • SCTID:715665006 (MONDO:equivalentTo)
  • GARD:0012431 (MONDO:equivalentTo)
  • ICD9:356.0 (DOID:0050539)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
CMT2 [ Orphanet:64746 ]

definition

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_64746, http://identifiers.org/snomedct/715665006, http://purl.obolibrary.org/obo/DOID_0050539

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015360

has exact synonym

hereditary motor and sensory neuropathy type 2, CMT2, hereditary motor and sensory neuropathy Guadalajara neuronal type, autosomal dominant axonal Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathy Okinawa type

has related synonym

autosomal dominant Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth type 2

id

MONDO:0018993

Term relations