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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: 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


In Mondo Disease Ontology:
MONDO:0014733 - Charcot-Marie-Tooth disease type 4K

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : surf1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Charcot-Marie-Tooth disease type 4 (is_a)