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Metadata
ID DOID:0110185
Name Charcot-Marie-Tooth disease type 4A
Definition A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.
https://www.ncbi.nlm.nih.gov/pubmed/11743579
Xrefs

ICD10CM:G60.0

MESH:C535419

MIM:214400

ORDO:99948

Subsets

DO_rare_slim

Synonyms

autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A [EXACT]

Charcot-Marie-Tooth neuropathy type 4A [EXACT]

CMT4A [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a Charcot-Marie-Tooth disease type 4

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