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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.ncbi.nlm.nih.gov/pubmed/25098539 DOID:0050539 http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm ]

Synonyms: 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

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0270914 (MONDO:equivalentTo)
  • MEDGEN:124378 (MONDO:equivalentTo)
  • ICD9:356.0 (DOID:0050539)
  • icd11.foundation:403896648 (https://orcid.org/0000-0002-4142-7153)
  • Orphanet:64746 (MONDO:equivalentTo)
  • DOID:0050539 (MONDO:equivalentTo)
  • GARD:12431 (MONDO:GARD)
  • SCTID:715665006 (MONDO:equivalentTo)
  • NANDO:1200018 (https://orcid.org/0000-0003-0011-764X)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, clingen, ordo_group_of_disorders

exactMatch

http://identifiers.org/snomedct/715665006

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

http://identifiers.org/medgen/124378

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

http://linkedlifedata.com/resource/umls/id/C0270914

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

Term relations