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| Aortic aneurysm, familial thoracic 6, 611788 (3): Located in omimdefinitions
| Multisystemic smooth muscle dysfunction syndrome, 613834 (3): Located in omimdefinitions
| Moyamoya disease 5, 614042 (3): Located in omimdefinitions
| Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3): Located in omimdefinitions
| Atrial fibrillation, familial, 1 (2): Located in omimdefinitions
| * 614215 ACTIVATING SIGNAL COINTEGRATOR 1 COMPLEX, SUBUNIT 1| ASCC1: Located in omimdefinitions
| Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3): Located in omimdefinitions
| Goldberg-Shprintzen megacolon syndrome, 609460 (3): Located in omimdefinitions
| Myopathy with extrapyramidal signs, 615673 (3): Located in omimdefinitions
| Combined oxidative phosphorylation deficiency 2, 610498 (3): Located in omimdefinitions

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