Charcot-Marie-Tooth disease axonal type 2O

Term ID

DOID:0110175

Synonyms

• autosomal dominant axonal Charcot-Marie-Tooth disease type 2O
• autosomal dominant Charcot-Marie-Tooth disease type 2O
• Charcot-Marie-Tooth neuropathy axonal type 2O

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/21820100

References

• ICD10CM:G60.0
• OMIM:614228
• ORDO:284232

Ontology

Human Disease   ( DOID:0110175 )