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Metadata
ID DOID:0110178
Name Charcot-Marie-Tooth disease axonal type 2V
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.
https://www.ncbi.nlm.nih.gov/pubmed/25818867
Xrefs

OMIM:616491

ORDO:447964

Synonyms

autosomal dominant axonal Charcot-Marie-Tooth disease type 2V [EXACT]

autosomal dominant Charcot-Marie-Tooth disease type 2V [EXACT]

Charcot-Marie-Tooth neuropathy type 2V [EXACT]

CMT2V [EXACT]

Parent Relationships

is_a Charcot-Marie-Tooth disease type 2

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