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

• ICD10CM:G60.0
• OMIM:613641
• ORDO:254334

Ontology

Human Disease   ( DOID:0110204 )