Charcot-Marie-Tooth disease type 4B2

Term ID

DOID:0110190

Synonyms

• autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
• Charcot-Marie-Tooth neuropathy type 4B2
• CMT4B2

Definition

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. https://www.ncbi.nlm.nih.gov/pubmed/12554688

References

• GARD:9200
• ICD10CM:G60.0
• MESH:C535421
• OMIM:604563
• ORDO:99956

Ontology

Human Disease   ( DOID:0110190 )