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Metadata
DOID DOID:0110204
Name Charcot-Marie-Tooth disease recessive intermediate B
Definition A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.
https://www.ncbi.nlm.nih.gov/pubmed/20920668
Synonyms

autosomal recessive intermediate Charcot-Marie-Tooth disease type B [EXACT]

Charcot-Marie-Tooth neuropathy recessive intermediate B [EXACT]

CMTRIB [EXACT]

RI-CMTB [EXACT]

Xrefs

ICD10CM:G60.0

OMIM:613641

ORDO:254334

Relationships

is_a Charcot-Marie-Tooth disease intermediate type

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