OBO ID: DOID:0110175
Term Name: Charcot-Marie-Tooth disease axonal type 2O Search Ontology:
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 Charcot-Marie-Tooth disease axonal type 2O PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 2O 614228
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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