Search Ontology:
Human Disease

Charcot-Marie-Tooth disease type 2DD

Term ID
DOID:0111558
Synonyms
  • ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
  • ATP1A1-related CMT2
  • Charcot-Marie-Tooth disease, axonal, type 2DD
  • Charcot-Marie-Tooth neuropathy, type 2DD
  • CMT2DD
Definition
A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. https://www.ncbi.nlm.nih.gov/pubmed/29499166
References
Ontology
Human Disease   ( DOID:0111558 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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