Term Name: | Charcot-Marie-Tooth disease type 2B2 |
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Synonyms: | AR-CMT2B2, ARCMT2B, autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2, Autosomal recessive axonal CMT4C3, Charcot-Marie-Tooth disease neuronal type 2B2, Charcot-Marie-Tooth neuropathy type 2B2, CMT2B2 |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. |
Ontology: | Human Disease [DOID:0110179] ( DOID:0110179 ) |