# Loeys-Dietz syndrome

> Human disease

**Wikidata**: [Q3508669](https://www.wikidata.org/wiki/Q3508669)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Loeys–Dietz_syndrome)  
**Source**: https://4ort.xyz/entity/loeys-dietz-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
5. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000092969/MONDO_0018954)
7. Heterozygous TGFBR2 mutations in Marfan syndrome
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000163513/MONDO_0018954)
9. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/8a546ce2-432c-4c8a-90e5-97293d7938be--2019-03-27T16:00:00)
11. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a546ce2-432c-4c8a-90e5-97293d7938be-2019-03-27T160000.000Z)
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000106799/MONDO_0018954)
13. [Identifiers.org](https://registry.identifiers.org/registry/doid)
14. Quora