Charcot-Marie-Tooth disease dominant intermediate E

Term ID

DOID:0110205

Synonyms

• autosomal dominant intermediate Charcot-Marie-Tooth disease type E
• Charcot-Marie-Tooth disease-nephropathy syndrome
• Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis
• CMTDIE

Definition

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/22187985

References

• ICD10CM:G60.0
• OMIM:614455
• ORDO:93114

Ontology

Human Disease   ( DOID:0110205 )