Term Name: | Charcot-Marie-Tooth disease axonal type 2K |
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Synonyms: | ARCMT2K, autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K, autosomal recessive axonal Charcot-Marie-Tooth disease type 2K, autosomal recessive axonal CMT4C4, autosomal recessive Charcot-Marie-Tooth disease with hoarseness, Charcot-Marie-Tooth neuropathy axonal type 2K |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. |
Ontology: | Human Disease [DOID:0110167] ( DOID:0110167 ) |