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Metadata
ID DOID:0110164
Name Charcot-Marie-Tooth disease type 2D
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene.
https://www.ncbi.nlm.nih.gov/pubmed/12690580
Xrefs

ICD10CM:G60.0

OMIM:601472

ORDO:99938

Subsets

DO_rare_slim

Synonyms

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

Charcot-Marie-Tooth disease neuronal type 2D [EXACT]

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

CMT2D [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease type 2

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