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Loeys-Dietz syndrome 1
Summary
- Synonym
-
- AAT5
- Furlong syndrome
- LDS1
- familial throacic aortic aneurysm 5
- Definition
- A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.
- Super Class
- Loeys-Dietz syndrome
External Links
- Disease Ontology
- DOID:0070235
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P36897 | TGF-beta receptor type-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000098 | Tall stature |
| HP:0001166 | Arachnodactyly |
| HP:0000978 | Bruising susceptibility |
| HP:0000822 | Hypertension |
| HP:0000965 | Cutis marmorata |
| HP:0000023 | Inguinal hernia |
| HP:0000316 | Hypertelorism |
| HP:0000525 | Abnormality iris morphology |
| HP:0000766 | Abnormal sternum morphology |
| HP:0000278 | Retrognathia |
