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Summary Literature (0)
DOID:0110203 - Charcot-Marie-Tooth disease recessive intermediate D

Disease Ontology Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24.

Synonyms: autosomal recessive intermediate Charcot-Marie-Tooth disease type D, CMTRID, RI-CMT type D

Xenbase Genes : cox6a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014467 - Charcot-Marie-Tooth disease recessive intermediate D


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)