OBO ID: DOID:0110155
Term Name: Charcot-Marie-Tooth disease type 2A2A Search Ontology:
Synonyms:
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2
  • Charcot-Marie-Tooth neuronal type 2A2
  • Charcot-Marie-Tooth neuropathy type 2A2
  • CMT2A2A
  • hereditary motor and sensory neuropathy IIA2
  • HMSN IIA2
  • HMSN2A2
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. (2)
References:
Ontology: Human Disease   ( DOID:0110155 )
OTHER Charcot-Marie-Tooth disease type 2A2A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MFN2 Charcot-Marie-Tooth disease, axonal, type 2A2A 609260
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None