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Human Disease

Charcot-Marie-Tooth disease axonal type 2Q

Term ID
DOID:0110170
Synonyms
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
  • autosomal dominant Charcot-Marie-Tooth disease type 2Q
  • Charcot-Marie-Tooth neuropathy type 2Q
  • CMT2Q
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. https://www.ncbi.nlm.nih.gov/pubmed/23141294
References
Ontology
Human Disease   ( DOID:0110170 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models