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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/617168
http://purl.bioontology.org/ontology/OMIM/617168
|
|---|---|
| Preferred Name | AORTIC ANEURYSM, FAMILIAL THORACIC 10 |
| Synonyms |
AORTIC ANEURYSM, THORACIC, WITH OR WITHOUT AORTIC DISSECTION
AAT10
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AORTIC ANEURYSM, THORACIC, WITH OR WITHOUT AORTIC DISSECTION
AAT10
|
|---|---|
| prefLabel | AORTIC ANEURYSM, FAMILIAL THORACIC 10
|
| Gene Symbol |
LOX
AAT10
|
| notation | 617168
|
| Scope Statement | Caused by mutation in the lysyl oxidase gene (LOX, 153455.0002) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 5q23.3-q31.2
|
| tui | T047
|
| cui | C4284414
|
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