Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616166 http://purl.bioontology.org/ontology/OMIM/616166
Preferred Name	AORTIC ANEURYSM, FAMILIAL THORACIC 9
Synonyms	AORTIC ANEURYSM, THORACIC, WITH OR WITHOUT AORTIC DISSECTION AAT9
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AORTIC ANEURYSM, THORACIC, WITH OR WITHOUT AORTIC DISSECTION AAT9
prefLabel	AORTIC ANEURYSM, FAMILIAL THORACIC 9
Gene Symbol	MFAP5 MAGP2 AAT9
Scope Statement	Caused by mutation in the microfibrillar-associated protein-5 gene (MFAP5, 601103.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006249 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU039690 http://purl.bioontology.org/ontology/OMIM/MTHU001106 http://purl.bioontology.org/ontology/OMIM/MTHU001151 http://purl.bioontology.org/ontology/OMIM/MTHU015647 http://purl.bioontology.org/ontology/OMIM/MTHU044255 http://purl.bioontology.org/ontology/OMIM/MTHU001468 See more See less
tui	T047
Gene Locus	12p13.1-p12.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616166
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4015368
OMIM Entry Type	3
OMIM MimType Value	pound

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