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DO Term : lethal congenital contracture syndrome 1 [DOID:0060559] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • SNOMEDCT_US_2023_03_01:715418007,
  • GARD:3227,
  • UMLS_CUI:C1854664,
  • LCCS1,
  • OMIM:253310,
  • 253310,
  • multiple contracture syndrome, Finnish type,
  • ORDO:1486,
  • MESH:C537194
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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