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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 GLE1 on chromosome 9q34.
Synonyms: LCCS1, multiple contracture syndrome, Finnish type,
Echinobase Genes : gle1
MIM:253310 - lethal congenital contracture syndrome 1; lccs1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee