Search Ontology:
Human Disease
Loeys-Dietz syndrome 4
- Term ID
- DOID:0070233
- Synonyms
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- Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations
- LDS4
- Definition
- A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. https://www.ncbi.nlm.nih.gov/pubmed/22772368
- References
- Ontology
- Human Disease ( DOID:0070233 )
- is a type of
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Genes Involved
Zebrafish Models