Search Ontology:
Human Disease
Charcot-Marie-Tooth disease type 1C
- Term ID
- DOID:0110151
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/12525712
- References
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- ICD10CM:G60.0
- MESH:C537984
- MIM:601098
- ORDO:101083
- Ontology
- Human Disease ( DOID:0110151 )
- is a type of
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Genes Involved
Zebrafish Models