Charcot-Marie-Tooth disease recessive intermediate C

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Summary

Literature (0)

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

Echinobase 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

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

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

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