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Disease Ontology Browser
Charcot-Marie-Tooth disease type 4K (DOID:0110187)
Alliance: disease page
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
Alt IDs: OMIM:616684, ICD10CM:G60.0, ORDO:391351
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory