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

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:715665006 (MONDO:equivalentTo)
  • ICD9:356.0 (DOID:0050539)
  • DOID:0050539 (MONDO:equivalentTo)
  • ICD10:G60.0 (Orphanet:64746)
  • GARD:0012431 (Orphanet-shared)
  • Orphanet:64746 (MONDO:equivalentTo)
Subsets

ordo_group_of_disorders

abbreviation
CMT2 [ Orphanet:64746 ]

closeMatch

http://identifiers.org/snomedct/193158000

http://identifiers.org/snomedct/128202008

http://linkedlifedata.com/resource/umls/id/C0392553

http://identifiers.org/snomedct/193159008

http://identifiers.org/snomedct/65017003

definition

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

exactMatch

http://identifiers.org/snomedct/715665006

http://purl.obolibrary.org/obo/DOID_0050539

http://www.orpha.net/ORDO/Orphanet_64746

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