Search Ontology:
Human Disease

Charcot-Marie-Tooth disease type 2D

Term ID
DOID:0110164
Synonyms
  • autosomal dominant Charcot-Marie-Tooth disease type 2D
  • Charcot-Marie-Tooth disease neuronal type 2D
  • Charcot-Marie-Tooth neuropathy type 2D
  • CMT2D
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. https://www.ncbi.nlm.nih.gov/pubmed/12690580
References
Ontology
Human Disease   ( DOID:0110164 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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