Search Ontology:
Human Disease

Charcot-Marie-Tooth disease dominant intermediate E

Term ID
DOID:0110205
Synonyms
  • autosomal dominant intermediate Charcot-Marie-Tooth disease type E
  • Charcot-Marie-Tooth disease-nephropathy syndrome
  • Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis
  • CMTDIE
Definition
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/22187985
References
Ontology
Human Disease   ( DOID:0110205 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models