Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/132900 http://purl.bioontology.org/ontology/OMIM/132900
Preferred Name	AORTIC ANEURYSM, FAMILIAL THORACIC 4
Synonyms	AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS AAT4 FAA4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS AAT4 FAA4
prefLabel	AORTIC ANEURYSM, FAMILIAL THORACIC 4
Gene Symbol	MYH11 AAT4 FAA4 VSCM2
Scope Statement	Caused by mutation in the myosin heavy chain 11 gene (MYH11, 160745.0001) [MOLECULAR BASIS] Family history of sudden death, as early as fourth decade of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU067151 http://purl.bioontology.org/ontology/OMIM/MTHU002067 http://purl.bioontology.org/ontology/OMIM/MTHU036737 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU024258 http://purl.bioontology.org/ontology/OMIM/MTHU067149 http://purl.bioontology.org/ontology/OMIM/MTHU067150 http://purl.bioontology.org/ontology/OMIM/MTHU009877 http://purl.bioontology.org/ontology/OMIM/MTHU067152 http://purl.bioontology.org/ontology/OMIM/MTHU036738 http://purl.bioontology.org/ontology/OMIM/MTHU067148 See more See less
tui	T047
Gene Locus	16p13.13-p13.12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	132900
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1851504
OMIM Entry Type	3
OMIM MimType Value	pound

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