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Charcot-Marie-Tooth disease type 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0018993

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

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

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:64746 (MONDO:equivalentTo)
  • SCTID:715665006 (MONDO:equivalentTo)
  • GARD:12431 (Orphanet:64746)
  • DOID:0050539 (MONDO:equivalentTo)
  • ICD9:356.0 (DOID:0050539)
Subsets

gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, clingen, ordo_group_of_disorders

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 related synonym

autosomal dominant Charcot-Marie-Tooth disease type 2

Charcot-Marie-Tooth type 2

id

MONDO:0018993

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018993

Term relations