Disease #03057

Official abbreviation AAT-6
Name aneurysm, aortic, thoracic, familial, type 6 (AAT-6)
OMIM ID 611788
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene ACTA2
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00164048 - - - - - - - - 0 - - AAT-6 - ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 ACTA2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00177028 - - - - - - - - 0 - - AAT-6 - ACTA2 ACTA2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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