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Charcot-Marie-Tooth disease type 4B3

Go to external page http://purl.obolibrary.org/obo/MONDO_0014117

Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). [ Orphanet:363981 ]

Synonyms: SBF1 Charcot-Marie-Tooth disease type 4 CMT4B3 Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease with focally folded myelin

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0110194 (MONDO:equivalentTo)
  • SCTID:763345008 (MONDO:equivalentTo)
  • OMIM:615284 (Orphanet:363981/e)
  • Orphanet:363981 (OMIM:615284)
  • UMLS:C3695063 (OMIM:615284)
  • GARD:17578 (Orphanet:363981)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://www.orpha.net/ORDO/Orphanet_363981

http://purl.obolibrary.org/obo/DOID_0110194

http://identifiers.org/snomedct/763345008

https://omim.org/entry/615284

http://linkedlifedata.com/resource/umls/id/C3695063

has related synonym

Charcot-Marie-Tooth disease, type 4B3

id

MONDO:0014117

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014117

Term relations