Search Ontology:
Human Disease

Charcot-Marie-Tooth disease type 1E

Term ID
DOID:0110153
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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