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Human Disease

Charcot-Marie-Tooth disease axonal type 2S

Term ID
DOID:0110171
Synonyms
  • autosomal recessive axonal Charcot-Marie-Tooth type 2S
  • Charcot-Marie-Tooth disease type 2S
  • Charcot-Marie-Tooth neuropathy type 2S
  • CMT2S
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/25439726
References
Ontology
Human Disease   ( DOID:0110171 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models