Charcot-Marie-Tooth disease type 2B

Summary

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,

Xenbase 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

: rab7a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010949 - Charcot-Marie-Tooth disease type 2B

MONDO:0010949 - Charcot-Marie-Tooth disease type 2B

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 type 2 (is_a), autosomal dominant disease (is_a)