OBO ID: DOID:0110153
Term Name: Charcot-Marie-Tooth disease type 1E Search Ontology:
Synonyms:
  • autosomal dominant Charcot-Marie-Tooth neuropathy and deafness
  • Charcot-Marie-Tooth disease and deafness
  • Charcot-Marie-Tooth disease demyelinating type 1E
  • Charcot-Marie-Tooth disease-deafness
  • CMT1E
Definition: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). https://www.ncbi.nlm.nih.gov/pubmed/10330345
References:
Ontology: Human Disease   ( DOID:0110153 )
OTHER Charcot-Marie-Tooth disease type 1E PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PMP22 Charcot-Marie-Tooth disease, type 1E 118300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None