OBO ID: DOID:0110154
Term Name: Charcot-Marie-Tooth disease type 2A1 Search Ontology:
Synonyms:
  • autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1
  • Charcot-Marie-Tooth disease neuronal type 2A1
  • Charcot-Marie-Tooth neuropathy type 2A1
  • CMT2A1
  • hereditary motor and sensory neuropathy IIA1
  • HMSN IIA1
  • HMSN2A1
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/11389829
References:
Ontology: Human Disease   (DOID:0110154)
OTHER Charcot-Marie-Tooth disease type 2A1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIF1B Charcot-Marie-Tooth disease, type 2A1 118210
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None