OBO ID: DOID:0110177
Term Name: Charcot-Marie-Tooth disease axonal type 2N Search Ontology:
Synonyms:
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2N
  • autosomal dominant Charcot-Marie-Tooth disease type 2N
  • Charcot-Marie-Tooth neuropathy axonal type 2N
  • CMT2N
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. https://www.ncbi.nlm.nih.gov/pubmed/20045102
References:
Ontology: Human Disease   ( DOID:0110177 )
Relationships
is a type of:
OTHER Charcot-Marie-Tooth disease axonal type 2N PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AARS Charcot-Marie-Tooth disease, axonal, type 2N 613287
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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