AORTIC ANEURYSM, FAMILIAL THORACIC 9
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
7
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
616166
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
3
|
(HPO:0001166)
|
Arachnodactyly |
rare [HPO:skoehler]
|
|
|
|
62 / 7739
|
|
4
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
5
|
(HPO:0001634)
|
Mitral valve prolapse |
rare [HPO:skoehler]
|
|
|
|
69 / 7739
|
|
6
|
(HPO:0005110)
|
Atrial fibrillation |
rare [HPO:skoehler]
|
|
|
|
71 / 7739
|
|
7
|
(HPO:0012727)
|
Thoracic aortic aneurysm |
|
|
|
|
2 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |