OBO ID: DOID:0110152
Term Name: Charcot-Marie-Tooth disease type 1B Search Ontology:
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 )
OTHER Charcot-Marie-Tooth disease type 1B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MPZ Charcot-Marie-Tooth disease, type 1B 118200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None