OBO ID: DOID:0111557
Term Name: Charcot-Marie-Tooth disease type 2A2B Search Ontology:
Synonyms:
  • AR-CMT2, Ouvrier type
  • autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
  • Charcot-Marie-Tooth disease, axonal, type 2A2B
  • CMT2A2B
  • SEOAN due to MFN2 deficiency
  • severe early-onset axonal neuropathy due to MFN2 deficiency
Definition: A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in MFN2 on chromosome 1p36.22. https://www.ncbi.nlm.nih.gov/pubmed/21715711
References:
Ontology: Human Disease   (DOID:0111557)
OTHER Charcot-Marie-Tooth disease type 2A2B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MFN2 Charcot-Marie-Tooth disease, axonal, type 2A2B 617087
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None