Search Ontology:
Human Disease

Charcot-Marie-Tooth disease type 1D

Term ID
DOID:0110150
Synonyms
  • Charcot-Marie-Tooth neuropathy type 1D
  • CMT1D
  • hereditary motor and sensory neuropathy 1D
  • HMSN ID
  • HMSN1D
Definition
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). https://www.ncbi.nlm.nih.gov/pubmed/9537424
References
Ontology
Human Disease   ( DOID:0110150 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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