FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Loeys-Dietz syndrome 4 ID (Ontology) DOID:0070233 (Human Disease)
Definition A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.
Also Known As "Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations" ; "LDS4"
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 Genes
 Loeys-Dietz syndrome 4       3
 for disease ribbon | Loeys-Dietz syndrome 4       3
 model of | Loeys-Dietz syndrome 4       3
Spanning Tree (Parents/Children)
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autosomal dominant disease__
syndrome____________________|
                            Loeys-Dietz syndrome
                             |__Loeys-Dietz syndrome 4  3 rec.
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Synonyms
  • "Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations" EXACT
    "LDS4" EXACT OMO:0003012
Secondary IDs
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MIM:614816