Loeys-Dietz syndrome 1
Information
- Disease name
- Loeys-Dietz syndrome 1
- Disease ID
- DOID:0070235
- Description
- "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22." [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:609192
- Exact Synonym (Disease Ontology)
- AAT5
- Exact Synonym (Disease Ontology)
- familial throacic aortic aneurysm 5
- Exact Synonym (Disease Ontology)
- Furlong syndrome
- Exact Synonym (Disease Ontology)
- LDS1