A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome. [ https://www.mda.org/disease/charcot-marie-tooth/types/cmtx https://charcot-marie-toothnews.com/charcot-marie-tooth-type-x-cmtx/ ]

Synonyms: CMTX COWCK X-linked hereditary motor and sensory neuropathy

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050542 (MONDO:equivalentTo)
  • GARD:12444 (Orphanet:64747)
  • Orphanet:64747 (MONDO:equivalentTo)
  • UMLS:C4551551 (MONDO:equivalentTo)
  • ICD9:356.9 (MONDO:relatedTo)
  • SCTID:230552007 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders

exactMatch

http://identifiers.org/snomedct/230552007

http://purl.obolibrary.org/obo/DOID_0050542

http://linkedlifedata.com/resource/umls/id/C4551551

http://www.orpha.net/ORDO/Orphanet_64747

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015358

http://purl.obolibrary.org/obo/MONDO_0020119

has related synonym

X-linked Charcot-Marie-Tooth disease

id

MONDO:0018994

Term relations