Charcot-Marie-Tooth disease type 4A

Term ID

DOID:0110185

Synonyms

• autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A
• Charcot-Marie-Tooth neuropathy type 4A
• CMT4A

Definition

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. https://www.ncbi.nlm.nih.gov/pubmed/11743579

References

• ICD10CM:G60.0
• MESH:C535419
• OMIM:214400
• ORDO:99948

Ontology

Human Disease   ( DOID:0110185 )