Term Name: | Charcot-Marie-Tooth disease type 1C |
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Synonyms: | Charcot-Marie-Tooth neuropathy type 1C, CMT slow nerve conduction type C, CMT1C, HMSN IC, HMSN1C, neuropathy hereditary motor and sensory type 1C |
Definition: | A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. |
Ontology: | Human Disease [DOID:0110151] ( DOID:0110151 ) |