OBO ID: DOID:0110171
Term Name: Charcot-Marie-Tooth disease axonal type 2S Search Ontology:
Synonyms:
  • autosomal recessive axonal Charcot-Marie-Tooth type 2S
  • Charcot-Marie-Tooth disease type 2S
  • Charcot-Marie-Tooth neuropathy type 2S
  • CMT2S
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/25439726
References:
Ontology: Human Disease   (DOID:0110171)
OTHER Charcot-Marie-Tooth disease axonal type 2S PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S 616155
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None