OBO ID: DOID:0110191
Term Name: Charcot-Marie-Tooth disease type 4B1 Search Ontology:
Synonyms:
  • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
  • Charcot-Marie-Tooth neuropathy type 4B1
  • CMT4B1
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). https://www.ncbi.nlm.nih.gov/pubmed/10802647
References:
Ontology: Human Disease   (DOID:0110191)
OTHER Charcot-Marie-Tooth disease type 4B1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MTMR2 Charcot-Marie-Tooth disease, type 4B1 601382
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None