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DOID:0111557 - Charcot-Marie-Tooth disease type 2A2B
Disease Ontology 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 the MFN2 gene on chromosome 1p36.22.
Synonyms: AR-CMT2, Ouvrier type, CMT2A2B, Charcot-Marie-Tooth disease, axonal, type 2A2B, SEOAN due to MFN2 deficiency, autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type, severe early-onset axonal neuropathy due to MFN2 deficiency,
Xenbase Genes : mfn2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee