Charcot-Marie-Tooth disease dominant intermediate D

Term ID

DOID:0110200

Synonyms

• autosomal dominant intermediate Charcot-Marie-Tooth disease type D
• Charcot-Marie-Tooth neuropathy dominant intermediate D
• CMTDID
• DI-CMTD

Definition

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. https://www.ncbi.nlm.nih.gov/pubmed/10406984

References

• ICD10CM:G60.0
• MESH:C564333
• OMIM:607791
• ORDO:100046

Ontology

Human Disease   ( DOID:0110200 )