Search Ontology:
Human Disease
Charcot-Marie-Tooth disease dominant intermediate G
- Term ID
- DOID:0080294
- Synonyms
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- Definition
- A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. https://pubmed.ncbi.nlm.nih.gov/28364294/
- References
- Ontology
- Human Disease ( DOID:0080294 )
- is a type of
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