Charcot-Marie-Tooth disease recessive intermediate C

Summary

DOID:0110198 - Charcot-Marie-Tooth disease recessive intermediate C

Disease Ontology Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.

Synonyms: autosomal recessive intermediate Charcot-Marie-Tooth disease type C, CMTRIC, RI-CMTC, RI-CMT type C

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

: plekhg5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014154 - Charcot-Marie-Tooth disease recessive intermediate C

MONDO:0014154 - Charcot-Marie-Tooth disease recessive intermediate C

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

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

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