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Metadata
ID DOID:0110160
Name Charcot-Marie-Tooth disease axonal type 2T
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.
https://www.ncbi.nlm.nih.gov/pubmed/26991897
Xrefs

ICD10CM:G60.0

OMIM:617017

ORDO:443950

Synonyms

AR-CMT2T [EXACT]

autosomal recessive axonal Charcot-Marie-Tooth disease type 2T [EXACT]

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

CMT2T [EXACT]

Parent Relationships

is_a Charcot-Marie-Tooth disease type 2

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