OBO ID: DOID:0110160
Term Name: Charcot-Marie-Tooth disease axonal type 2T Search Ontology:
Synonyms:
  • AR-CMT2T
  • autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
  • Charcot-Marie-Tooth neuropathy type 2T
  • CMT2T
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. https://www.ncbi.nlm.nih.gov/pubmed/26991897
References:
Ontology: Human Disease   (DOID:0110160)
OTHER Charcot-Marie-Tooth disease axonal type 2T PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MME Charcot-Marie-Tooth disease, axonal, type 2T 617017
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None