Term Name: | Charcot-Marie-Tooth disease type 4K |
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Synonyms: | autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K, autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K, CMT4K, SURF1-related Charcot-Marie-Tooth disease type 4, SURF1-related CMT4, SURF1-related severe demyelinating Charcot-Marie-Tooth disease |
Definition: | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. |
Ontology: | Human Disease [DOID:0110187] ( DOID:0110187 ) |