Visualize Submit Comment
Metadata
ID DOID:0110187
Name Charcot-Marie-Tooth disease type 4K
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.
https://www.ncbi.nlm.nih.gov/pubmed/24027061
Xrefs

ICD10CM:G60.0

OMIM:616684

ORDO:391351

Synonyms

autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K [EXACT]

autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K [EXACT]

CMT4K [EXACT]

SURF1-related Charcot-Marie-Tooth disease type 4 [EXACT]

SURF1-related CMT4 [EXACT]

SURF1-related severe demyelinating Charcot-Marie-Tooth disease [EXACT]

Parent Relationships

is_a Charcot-Marie-Tooth disease type 4

Add an item to the term tracker