Search Ontology:
Human Disease
Loeys-Dietz syndrome 2
- Term ID
- DOID:0070234
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models