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Summary Literature (0)
DOID:0060559 - lethal congenital contracture syndrome 1

Disease Ontology 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.

Synonyms: LCCS1, multiple contracture syndrome, Finnish type,

Xenbase Genes : gle1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009670 - lethal congenital contracture syndrome 1


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): lethal congenital contracture syndrome (is_a)