# Loeys-Dietz syndrome 2

> Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR2 gene on chromosome 3p24

**Wikidata**: [Q55999856](https://www.wikidata.org/wiki/Q55999856)  
**Source**: https://4ort.xyz/entity/loeys-dietz-syndrome-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/73be8b4f-d823-44e5-ab76-faa3bc8eca84--2020-11-25T18:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73be8b4f-d823-44e5-ab76-faa3bc8eca84-2020-11-25T180000.000Z)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)