Loeys-Dietz Syndrome
Disease ID: disease_node_12127
Connections displayed (default: 10).
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| Dbxref | GARD:10788, MESH:D055947, NCI:C75006, ORDO:60030, SNOMEDCT_US_2023_03_01:446263001, UMLS_CUI:C1836635, UMLS_CUI:C2697932 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID, MESH |
| Mesh Id | D055947 |
| Mesh Label | Loeys-Dietz Syndrome |
| Mesh Subclassof | D030342, D000015, D019465, D001014 |
| Doid Label | Loeys-Dietz syndrome |
| Doid Description | 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. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_12127 |
| Doid Id | DOID_0050466 |
| Label | Loeys-Dietz Syndrome |
- Incoming r'ship
SUBCLASS_OFto/from Loeys-Dietz Syndrome 1(ID:disease_node_20175) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Loeys-Dietz Syndrome 2(ID:disease_node_20176) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Loeys-Dietz Syndrome 3(ID:disease_node_20173) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Loeys-Dietz Syndrome 6(ID:disease_node_20178) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Loeys-Dietz Syndrome 5(ID:disease_node_20174) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Loeys-Dietz Syndrome 4(ID:disease_node_20177) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)