OBO ID: DOID:0110150
Term Name: Charcot-Marie-Tooth disease type 1D Search Ontology:
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 )
OTHER Charcot-Marie-Tooth disease type 1D PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EGR2 Charcot-Marie-Tooth disease, type 1D 607678
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None