Search Ontology:
Human Disease

lethal congenital contracture syndrome 1

Term ID
DOID:0060559
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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