Metadata | |
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ID | DOID:0110151 |
Name | Charcot-Marie-Tooth disease type 1C |
Definition | A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/12525712 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
Charcot-Marie-Tooth neuropathy type 1C [EXACT] CMT slow nerve conduction type C [EXACT] CMT1C [EXACT] HMSN IC [EXACT] HMSN1C [EXACT] neuropathy hereditary motor and sensory type 1C [EXACT] |
Parent Relationships |