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 2 ID (Ontology) DOID:0070234 (Human Disease)
Definition A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.
Also Known As "AAT3" ; "familial throacic aortic aneurysm 3" ; "LDS2" (for all, see Synonyms field below)
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 Genes
 Loeys-Dietz syndrome 2       1
 for disease ribbon | Loeys-Dietz syndrome 2       1
 model of | Loeys-Dietz syndrome 2       1
Spanning Tree (Parents/Children)
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autosomal dominant disease__
syndrome____________________|
                            Loeys-Dietz syndrome
                             |__Loeys-Dietz syndrome 2  1 rec.
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Synonyms
  • "AAT3" EXACT OMO:0003012
    "familial throacic aortic aneurysm 3" EXACT
    "LDS2" EXACT OMO:0003012
    "Marfan syndrome type II" EXACT
Secondary IDs
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MIM:610168