OBO ID: DOID:0110203
Term Name: Charcot-Marie-Tooth disease recessive intermediate D Search Ontology:
Synonyms:
  • autosomal recessive intermediate Charcot-Marie-Tooth disease type D
  • CMTRID
  • RI-CMT type D
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/25152455
References:
Ontology: Human Disease   (DOID:0110203)
OTHER Charcot-Marie-Tooth disease recessive intermediate D PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COX6A1 Charcot-Marie-Tooth disease, recessive intermediate D 616039
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None