Search Ontology:
Human Disease

Charcot-Marie-Tooth disease axonal type 2O

Term ID
DOID:0110175
Synonyms
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2O
  • autosomal dominant Charcot-Marie-Tooth disease type 2O
  • Charcot-Marie-Tooth neuropathy axonal type 2O
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/21820100
References
Ontology
Human Disease   ( DOID:0110175 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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