Charcot-Marie-Tooth disease dominant intermediate B

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:606482 - charcot-marie-tooth disease, dominant intermediate b; cmtdib

MIM:606482 - charcot-marie-tooth disease, dominant intermediate b; cmtdib

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Charcot-Marie-Tooth disease intermediate type (is_a)