Loeys-Dietz syndrome 2
Information
- Disease name
- Loeys-Dietz syndrome 2
- Disease ID
- DOID:0070234
- Description
- "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15235604, url:https\://www.ncbi.nlm.nih.gov/pubmed/15731757]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050466
- Cross Reference ID (Disease Ontology)
- MIM:610168
- Exact Synonym (Disease Ontology)
- AAT3
- Exact Synonym (Disease Ontology)
- familial throacic aortic aneurysm 3
- Exact Synonym (Disease Ontology)
- LDS2
- Exact Synonym (Disease Ontology)
- Marfan syndrome type II