Charcot-Marie-Tooth disease type 4K

Summary

DOID:0110187 - Charcot-Marie-Tooth disease type 4K

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.

Synonyms: CMT4K, SURF1-related CMT4, SURF1-related Charcot-Marie-Tooth disease type 4, SURF1-related severe demyelinating Charcot-Marie-Tooth disease, autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K, autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K,

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: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

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

Parent(s): Charcot-Marie-Tooth disease type 4 (is_a), autosomal recessive disease (is_a)