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Human Disease

Charcot-Marie-Tooth disease axonal type 2U

Term ID
DOID:0110173
Synonyms
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
  • autosomal dominant Charcot-Marie-Tooth disease type 2U
  • Charcot-Marie-Tooth neuropathy type 2U
  • CMT2U
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/23729695
References
Ontology
Human Disease   ( DOID:0110173 )
Relationships
is a type of
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Genes Involved
Zebrafish Models