OBO ID: DOID:0110168
Term Name: Charcot-Marie-Tooth disease type 2Y Search Ontology:
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:
OTHER Charcot-Marie-Tooth disease type 2Y PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VCP Charcot-Marie-Tooth disease, type 2Y 616687
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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