Term Name: | Charcot-Marie-Tooth disease type 4A |
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Synonyms: | autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth neuropathy type 4A, CMT4A |
Definition: | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. |
Ontology: | Human Disease [DOID:0110185] ( DOID:0110185 ) |