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Charcot-Marie-Tooth disease type 4B2

Go to external page http://purl.obolibrary.org/obo/MONDO_0011475

Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported. [ Orphanet:99956 ]

Synonyms: CMT4B2 SBF2 Charcot-Marie-Tooth disease type 4 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2 Charcot-Marie-Tooth neuropathy type 4B2

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C535421 (Orphanet:99956/e)
  • OMIM:604563 (Orphanet:99956/e)
  • SCTID:715800000 (MONDO:equivalentTo)
  • UMLS:C1858278 (Orphanet:99956/e)
  • GARD:9200 (Orphanet:99956)
  • DOID:0110190 (MONDO:equivalentTo)
  • Orphanet:99956 (OMIM:604563)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C1858278

http://www.orpha.net/ORDO/Orphanet_99956

http://identifiers.org/snomedct/715800000

https://omim.org/entry/604563

http://identifiers.org/mesh/C535421

http://purl.obolibrary.org/obo/DOID_0110190

has related synonym

Charcot Marie Tooth disease type 4B2

Charcot-Marie-Tooth disease, type 4B2

Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2

Charcot-Marie-Tooth neuropathy, type 4B2

Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma

CMT 4B2

Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma

id

MONDO:0011475

seeAlso

https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2

https://search.clinicalgenome.org/kb/conditions/MONDO:0011475

Term relations