OBO ID: DOID:0110190
Term Name: Charcot-Marie-Tooth disease type 4B2 Search Ontology:
Synonyms:
  • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
  • Charcot-Marie-Tooth neuropathy type 4B2
  • CMT4B2
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. https://www.ncbi.nlm.nih.gov/pubmed/12554688
References:
Ontology: Human Disease   (DOID:0110190)
OTHER Charcot-Marie-Tooth disease type 4B2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SBF2 Charcot-Marie-Tooth disease, type 4B2 604563
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None