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Summary Literature (0)
DOID:0110197 - Charcot-Marie-Tooth disease dominant intermediate B


Disease Ontology Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).

Synonyms: CMTDI1, CMTDIB, Charcot-Marie-Tooth neuropathy dominant intermediate B, DI-CMTB

Xenbase Genes : dnm2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011674 - Charcot-Marie-Tooth disease dominant intermediate B

OMIM:
OMIM:606482 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Charcot-Marie-Tooth disease intermediate type (is_a)