OBO ID: DOID:0110174
Term Name: Charcot-Marie-Tooth disease axonal type 2L Search Ontology:
Synonyms:
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2L
  • autosomal dominant Charcot-Marie-Tooth disease type 2L
  • Charcot-Marie-Tooth neuropathy axonal type 2L
  • CMT2L
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. https://www.ncbi.nlm.nih.gov/pubmed/15565283
References:
Ontology: Human Disease   ( DOID:0110174 )
OTHER Charcot-Marie-Tooth disease axonal type 2L PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HSPB8 Charcot-Marie-Tooth disease, axonal, type 2L 608673
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None