Search Ontology:
Human Disease

Charcot-Marie-Tooth disease axonal type 2H

Term ID
DOID:0110166
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models