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
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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