OBO ID: DOID:0110164
Term Name: Charcot-Marie-Tooth disease type 2D Search Ontology:
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 Charcot-Marie-Tooth disease type 2D PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GARS Charcot-Marie-Tooth disease, type 2D 601472
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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