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
Term information
- 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)
gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders
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
http://purl.obolibrary.org/obo/MONDO_0015358
http://purl.obolibrary.org/obo/MONDO_0020119