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Metadata
ID DOID:0080294
Name Charcot-Marie-Tooth disease dominant intermediate G
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/
Xrefs

OMIM:617882

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease intermediate type

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