Search Ontology:
Human Disease
Loeys-Dietz syndrome
- Term ID
- DOID:0050466
- Synonyms
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- Definition
- A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome
- References
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- GARD:10788
- MESH:D055947
- NCI:C75006
- ORDO:60030
- SNOMEDCT_US_2023_03_01:446263001
- UMLS_CUI:C1836635
- UMLS_CUI:C2697932
- Ontology
- Human Disease ( DOID:0050466 )
- is a type of
-
- has subtype
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Genes Involved
Zebrafish Models