OBO ID: DOID:0110204
Term Name: Charcot-Marie-Tooth disease recessive intermediate B Search Ontology:
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)
OTHER Charcot-Marie-Tooth disease recessive intermediate B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KARS1 ?Charcot-Marie-Tooth disease, recessive intermediate, B 613641
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None