OBO ID: DOID:0110195
Term Name: Charcot-Marie-Tooth disease type 4E Search Ontology:
Synonyms:
  • autosomal recessive congenital hypomyelinating or amyelinating neuropathy
  • Charcot-Marie-Tooth neuropathy type 4E
  • CMT4E
  • Neuropathy, congenital hypomyelinating, 1
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. (2)
References:
Ontology: Human Disease   (DOID:0110195)
OTHER Charcot-Marie-Tooth disease type 4E PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EGR2 Hypomyelinating neuropathy, congenital, 1 605253
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None