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Human Disease

Charcot-Marie-Tooth disease type 2Y

Term ID
DOID:0110168
Synonyms
  • autosomal dominant axonal Charcot-Marie-Tooth type 2Y
  • autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
  • Charcot-Marie-Tooth neuropathy type 2Y
  • CMT2 due to VCP mutation
  • CMT2Y
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. https://www.ncbi.nlm.nih.gov/pubmed/25125609
References
Ontology
Human Disease   ( DOID:0110168 )
Relationships
is a type of
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Genes Involved
Zebrafish Models