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Summary Literature (1)
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

In OMIM:
OMIM:600882 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B

In Mondo Disease Ontology:
MONDO:0010949 - Charcot-Marie-Tooth disease type 2B

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : rab7a

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Charcot-Marie-Tooth disease type 2 (is_a)