Term Name: | Charcot-Marie-Tooth disease type 2A2A |
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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. |
Ontology: | Human Disease [DOID:0110155] ( DOID:0110155 ) |