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Human Disease

Loeys-Dietz syndrome 2

Term ID
DOID:0070234
Synonyms
  • AAT3
  • familial throacic aortic aneurysm 3
  • LDS2
  • Marfan syndrome type II
Definition
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. (2)
References
Ontology
Human Disease   ( DOID:0070234 )
Relationships
is a type of
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Genes Involved
Zebrafish Models