Term Name: | Charcot-Marie-Tooth disease axonal type 2T |
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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. |
Ontology: | Human Disease [DOID:0110160] ( DOID:0110160 ) |