OBO ID: DOID:0060559
Term Name: lethal congenital contracture syndrome 1 Search Ontology:
Synonyms:
  • LCCS1
  • multiple contracture syndrome, Finnish type
Definition: A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/9683599
References:
Ontology: Human Disease   ( DOID:0060559 )
OTHER lethal congenital contracture syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GLE1 Lethal congenital contracture syndrome 1 253310
ZEBRAFISH MODELS
Fish Conditions Citations
gle1hi4161aTg/hi4161aTg (TL) standard conditions Seytanoglu et al., 2016
PHENOTYPE No data available

CITATIONS (1)