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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: CMT2B, Charcot-Marie-Tooth neuropathy type 2B, HMSN IIB, HMSN2B, autosomal dominant Charcot-Marie-Tooth disease type 2B, hereditary motor and sensory nueropathy IIB,
Echinobase Genes : rab7a
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, Ontobee