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Human Disease

Charcot-Marie-Tooth disease recessive intermediate B

Term ID
DOID:0110204
Synonyms
  • autosomal recessive intermediate Charcot-Marie-Tooth disease type B
  • Charcot-Marie-Tooth neuropathy recessive intermediate B
  • CMTRIB
  • RI-CMTB
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
References
Ontology
Human Disease   ( DOID:0110204 )
Relationships
is a type of
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Genes Involved
Zebrafish Models