Term Name: | Charcot-Marie-Tooth disease type 2B1 |
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Synonyms: | autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1, autosomal recessive axonal CMT4C1, autosomal recessive Charcot-Marie-Tooth disease type 2B1, Charcot-Marie-Tooth disease neuronal type 2B1, Charcot-Marie-Tooth neuropathy type 2B1, CMT2B1 |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. |
Ontology: | Human Disease [DOID:0110156] ( DOID:0110156 ) |