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Metadata
ID DOID:0110154
Name Charcot-Marie-Tooth disease type 2A1
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36.
https://www.ncbi.nlm.nih.gov/pubmed/11389829
Xrefs

ICD10CM:G60.0

MIM:118210

ORDO:99946

Subsets

DO_rare_slim

Synonyms

autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 [EXACT]

Charcot-Marie-Tooth disease neuronal type 2A1 [EXACT]

Charcot-Marie-Tooth neuropathy type 2A1 [EXACT]

CMT2A1 [EXACT]

hereditary motor and sensory neuropathy IIA1 [EXACT]

HMSN IIA1 [EXACT]

HMSN2A1 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease type 2

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