OBO ID: DOID:0110166
Term Name: Charcot-Marie-Tooth disease axonal type 2H Search Ontology:
Synonyms:
  • AR-CMT2C
  • autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features
  • autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features
  • Autosomal recessive axonal CMT4C2
  • Axonal Charcot-Marie-Tooth disease with pyramidal involvement
  • Charcot-Marie-Tooth disease type 2H
  • CMT2H
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. https://www.ncbi.nlm.nih.gov/pubmed/11166163
References:
Ontology: Human Disease   (DOID:0110166)
OTHER Charcot-Marie-Tooth disease axonal type 2H PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None