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Metadata
ID DOID:0110197
Name Charcot-Marie-Tooth disease dominant intermediate B
Definition A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).
https://www.ncbi.nlm.nih.gov/pubmed/15731758
Xrefs

ICD10CM:G60.0

MESH:C564703

MIM:606482

ORDO:100044

Subsets

DO_rare_slim

Synonyms

Charcot-Marie-Tooth neuropathy dominant intermediate B [EXACT]

CMTDI1 [EXACT]

CMTDIB [EXACT]

DI-CMTB [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease intermediate type

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