Search Ontology:
Human Disease

Charcot-Marie-Tooth disease axonal type 2N

Term ID
DOID:0110177
Synonyms
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2N
  • autosomal dominant Charcot-Marie-Tooth disease type 2N
  • Charcot-Marie-Tooth neuropathy axonal type 2N
  • CMT2N
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. https://www.ncbi.nlm.nih.gov/pubmed/20045102
References
Ontology
Human Disease   ( DOID:0110177 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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