Charcot-Marie-Tooth disease type 4K

Term ID

DOID:0110187

Synonyms

• autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K
• autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K
• CMT4K
• SURF1-related Charcot-Marie-Tooth disease type 4
• SURF1-related CMT4
• SURF1-related severe demyelinating Charcot-Marie-Tooth disease

Definition

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/24027061

References

• ICD10CM:G60.0
• MIM:616684
• ORDO:391351

Ontology

Human Disease   ( DOID:0110187 )