Search Ontology:
Human Disease

Charcot-Marie-Tooth disease type 1B

Term ID
DOID:0110152
Synonyms
  • autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
  • Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
  • Charcot-Marie-Tooth neuropathy type 1B
  • CMT1B
  • hereditary motor and sensory neuropathy IB
  • HMSN IB
  • HMSN1B
  • peroneal muscular atrophy
Definition
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). https://www.ncbi.nlm.nih.gov/pubmed/7693129
References
Ontology
Human Disease   ( DOID:0110152 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models