Charcot-Marie-Tooth disease dominant intermediate F

Term ID

DOID:0110206

Synonyms

• autosomal dominant intermediate Charcot-Marie-Tooth disease type F
• CMTDIF

Definition

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. https://www.ncbi.nlm.nih.gov/pubmed/23434117

References

• ICD10CM:G60.0
• OMIM:615185
• ORDO:352670

Ontology

Human Disease   ( DOID:0110206 )