OBO ID: DOID:0110209
Term Name: Charcot-Marie-Tooth disease X-linked dominant 1 Search Ontology:
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 Charcot-Marie-Tooth disease X-linked dominant 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GJB1 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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