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Human Disease

Charcot-Marie-Tooth disease type 1A

Term ID
DOID:0110148
Synonyms
  • autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
  • Charcot-Marie-Tooth neuropathy type 1A
  • CMT1A
  • hereditary motor and sensory neuropathy 1A
  • HMSN1A
  • microduplication 17p12
Definition
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). (2)
References
Ontology
Human Disease   ( DOID:0110148 )
Relationships
is a type of
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Genes Involved
Zebrafish Models