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ZIRC
OBO ID: DOID:0110162
Term Name: Charcot-Marie-Tooth disease, axonal type 2W Search Ontology:
Synonyms:
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2W
  • Charcot-Marie-Tooth neuropathy type 2W
  • CMT2W
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31.https://www.ncbi.nlm.nih.gov/pubmed/22930593
References:
Ontology: Human Disease   (DOID:0110162)
OTHER Charcot-Marie-Tooth disease, axonal type 2W PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HARS Charcot-Marie-Tooth disease, axonal, type 2W 616625
HARS2 Charcot-Marie-Tooth disease, axonal, type 2W 616625
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None