FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lethal congenital contracture syndrome 1 ID (Ontology) DOID:0060559 (Human Disease)
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.
Also Known As "LCCS1" ; "multiple contracture syndrome, Finnish type"
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 lethal congenital contracture syndrome 1       1
 for disease ribbon | lethal congenital contracture syndrome 1       1
 model of | lethal congenital contracture syndrome 1       1
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autosomal recessive disease__
physical disorder____________|
syndrome_____________________|
                             lethal congenital contracture syndrome
                              |__lethal congenital contracture syndrome 1  1 rec.
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Is a lethal congenital contracture syndrome
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Synonyms
  • "LCCS1" EXACT OMO:0003012
    "multiple contracture syndrome, Finnish type" EXACT
Secondary IDs
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GARD:3227
MESH:C537194
MIM:253310
ORDO:1486
SNOMEDCT_US_2023_03_01:715418007
UMLS_CUI:C1854664