Search Ontology:
Human Disease

Charcot-Marie-Tooth disease type 2A1

Term ID
DOID:0110154
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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