OBO ID: DOID:0110156
Term Name: Charcot-Marie-Tooth disease type 2B1 Search Ontology:
Synonyms:
  • autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
  • autosomal recessive axonal CMT4C1
  • autosomal recessive Charcot-Marie-Tooth disease type 2B1
  • Charcot-Marie-Tooth disease neuronal type 2B1
  • Charcot-Marie-Tooth neuropathy type 2B1
  • CMT2B1
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/11799477
References:
Ontology: Human Disease   (DOID:0110156)
OTHER Charcot-Marie-Tooth disease type 2B1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LMNA Charcot-Marie-Tooth disease, type 2B1 605588
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None