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Echinobase
Summary Literature (0)
DOID:0110159 - Charcot-Marie-Tooth disease type 2B

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.

Synonyms: autosomal dominant Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth neuropathy type 2B, CMT2B, hereditary motor and sensory nueropathy IIB, HMSN IIB, HMSN2B

Echinobase Genes : rab7a


MIM:
MIM:600882 - charcot-marie-tooth disease, axonal, type 2b; cmt2b

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal dominant disease (is_a), Charcot-Marie-Tooth disease type 2 (is_a)