WormBase Tree Display for DO_term: DOID:0050466
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| DOID:0050466 | Name | Loeys-Dietz syndrome | |
|---|---|---|---|
| Status | Valid | ||
| 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. | ||
| Comment | Xref MGI. | ||
| Parent | Is_a | DOID:225 | |
| DOID:0050736 | |||
| Child | Is | DOID:0070233 | |
| DOID:0070234 | |||
| DOID:0070235 | |||
| DOID:0070236 | |||
| DOID:0070237 | |||
| Attribute_of | Gene_by_orthology | WBGene00004856 |
