Search Ontology:
Human Disease

Charcot-Marie-Tooth disease X-linked dominant 1

Term ID
DOID:0110209
Synonyms
  • Charcot-Marie-Tooth neuropathy X-linked dominant 1
  • CMT1X
  • CMTX1
  • X-linked Charcot-Marie-Tooth disease type 1
Definition
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. https://www.ncbi.nlm.nih.gov/pubmed/8266101
References
Ontology
Human Disease   ( DOID:0110209 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.