OBO ID: DOID:0110198
Term Name: Charcot-Marie-Tooth disease recessive intermediate C Search Ontology:
Synonyms:
  • autosomal recessive intermediate Charcot-Marie-Tooth disease type C
  • CMTRIC
  • RI-CMT type C
  • RI-CMTC
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/23777631
References:
Ontology: Human Disease   (DOID:0110198)
OTHER Charcot-Marie-Tooth disease recessive intermediate C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLEKHG5 Charcot-Marie-Tooth disease, recessive intermediate C 615376
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None