Charcot-Marie-Tooth disease axonal type 2Z

Term ID

DOID:0110181

Synonyms

• autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z
• Charcot-Marie-Tooth neuropathy type 2Z
• CMT2Z

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/26497905

References

• OMIM:616688
• ORDO:466768

Ontology

Human Disease   ( DOID:0110181 )