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Human Disease

Charcot-Marie-Tooth disease type 2R

Term ID
DOID:0110161
Synonyms
  • autosomal recessive axonal Charcot-Marie-Tooth disease type 2R
  • Charcot-Marie-Tooth neuropathy type 2R
  • CMT2R
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. (2)
References
Ontology
Human Disease   ( DOID:0110161 )
Relationships
is a type of
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Genes Involved
Zebrafish Models