OBO ID: DOID:0110161
Term Name: Charcot-Marie-Tooth disease type 2R Search Ontology:
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)
OTHER Charcot-Marie-Tooth disease type 2R PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRIM2 Charcot-Marie-Tooth disease, type 2R 615490
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None