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Metadata
ID DOID:0110179
Name Charcot-Marie-Tooth disease type 2B2
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene.
https://www.ncbi.nlm.nih.gov/pubmed/19290556
Xrefs

ICD10CM:G60.0

OMIM:605589

ORDO:101101

Synonyms

AR-CMT2B2 [EXACT]

ARCMT2B [EXACT]

autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 [EXACT]

Autosomal recessive axonal CMT4C3 [EXACT]

Charcot-Marie-Tooth disease neuronal type 2B2 [EXACT]

Charcot-Marie-Tooth neuropathy type 2B2 [EXACT]

CMT2B2 [EXACT]

Parent Relationships

is_a Charcot-Marie-Tooth disease type 2

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