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Metadata
ID DOID:0110170
Name Charcot-Marie-Tooth disease axonal type 2Q
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
https://www.ncbi.nlm.nih.gov/pubmed/23141294
Xrefs

ICD10CM:G60.0

OMIM:615025

ORDO:329258

Synonyms

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

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

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

CMT2Q [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease type 2

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