OBO ID: DOID:0110194
Term Name: Charcot-Marie-Tooth disease type 4B3 Search Ontology:
Synonyms:
  • CMT4B3
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. https://www.ncbi.nlm.nih.gov/pubmed/23749797
References:
Ontology: Human Disease   ( DOID:0110194 )
OTHER Charcot-Marie-Tooth disease type 4B3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SBF1 Charcot-Marie-Tooth disease, type 4B3 615284
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None