Search Ontology:
Human Disease

Charcot-Marie-Tooth disease axonal type 2CC

Term ID
DOID:0110180
Synonyms
  • Charcot-Marie-Tooth neuropathy type 2CC
  • CMT2CC
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/27040688
References
Ontology
Human Disease   ( DOID:0110180 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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