Charcot-Marie-Tooth disease type 2B2

Term ID

DOID:0110179

Synonyms

• AR-CMT2B2
• ARCMT2B
• autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
• Autosomal recessive axonal CMT4C3
• Charcot-Marie-Tooth disease neuronal type 2B2
• Charcot-Marie-Tooth neuropathy type 2B2
• CMT2B2

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. https://www.ncbi.nlm.nih.gov/pubmed/19290556

References

• ICD10CM:G60.0
• MESH:C537991
• OMIM:605589
• ORDO:101101

Ontology

Human Disease   ( DOID:0110179 )