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Metadata
ID DOID:0110156
Name Charcot-Marie-Tooth disease type 2B1
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.
https://www.ncbi.nlm.nih.gov/pubmed/11799477
Xrefs

ICD10CM:G60.0

OMIM:605588

ORDO:98856

Synonyms

autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1 [EXACT]

autosomal recessive axonal CMT4C1 [EXACT]

autosomal recessive Charcot-Marie-Tooth disease type 2B1 [EXACT]

Charcot-Marie-Tooth disease neuronal type 2B1 [EXACT]

Charcot-Marie-Tooth neuropathy type 2B1 [EXACT]

CMT2B1 [EXACT]

Parent Relationships

is_a Charcot-Marie-Tooth disease type 2

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