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Summary Literature (0)
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: autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K, autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K, CMT4K, SURF1-related Charcot-Marie-Tooth disease type 4, SURF1-related CMT4, SURF1-related severe demyelinating Charcot-Marie-Tooth disease

Xenbase Genes : surf1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014733 - Charcot-Marie-Tooth disease type 4K

MIM:
MIM:616684 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K; CMT4K

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive disease (is_a), Charcot-Marie-Tooth disease type 4 (is_a)