OBO ID: DOID:0110176
Term Name: Charcot-Marie-Tooth disease axonal type 2X Search Ontology:
Synonyms:
  • autosomal recessive axonal Charcot-Marie-Tooth disease type 2X
  • Charcot-Marie-Tooth neuropathy type 2X
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. https://www.ncbi.nlm.nih.gov/pubmed/26556829
References:
Ontology: Human Disease   (DOID:0110176)
OTHER Charcot-Marie-Tooth disease axonal type 2X PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SPG11 Charcot-Marie-Tooth disease, axonal, type 2X 616668
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None