OBO ID: DOID:0111558
Term Name: Charcot-Marie-Tooth disease type 2DD Search Ontology:
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 ATP1A1 on chromosome 1p13.1. https://www.ncbi.nlm.nih.gov/pubmed/29499166
References:
Ontology: Human Disease   (DOID:0111558)
OTHER Charcot-Marie-Tooth disease type 2DD PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP1A1 Charcot-Marie-Tooth disease, axonal, type 2DD 618036
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None