Charcot-Marie-Tooth disease type 2B

Term ID

DOID:0110159

Synonyms

• autosomal dominant Charcot-Marie-Tooth disease type 2B
• Charcot-Marie-Tooth neuropathy type 2B
• CMT2B
• hereditary motor and sensory nueropathy IIB
• HMSN IIB
• HMSN2B

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. https://www.ncbi.nlm.nih.gov/pubmed/12545426

References

• GARD:9192
• ICD10CM:G60.0
• MESH:C537989
• OMIM:600882
• ORDO:99936

Ontology

Human Disease   ( DOID:0110159 )