has material basis in germline mutation in NOTCH1 autosomal dominant disease cardiogenetic disease syndromic congenital heart disease NOTCH1-related AOS spectrum disorder https://github.com/monarch-initiative/mondo/issues/9832 Variants in NOTCH1 have been reported in individuals with the following disease entities: Adams-Oliver Syndrome, congenital heart disease, aortic valve disease including bicuspid aortic valve, and thoracic aortic aneurysm and dissection. Individuals with pathogenic variants in NOTCH1 may also be asymptomatic due to incomplete penetrance and extensive intrafamilial variability. Per criteria outlined by the ClinGen Lumping and Splitting guidelines, we found no difference in molecular mechanism and inheritance pattern and found considerable interfamilial and intrafamilial variability in cardiac phenotypes. Therefore, Adams-Oliver syndrome 5 and aortic valve disease 1 have been lumped into one disease entity (NOTCH1-related AOS spectrum disorder). MONDO:1060150 https://github.com/monarch-initiative/mondo/issues/9236 A disease characterized by a spectrum of cardiac and extracardiac phenotypes caused by a disease-causing variant in the NOTCH1 gene, inherited in an autosomal dominant manner. Affected individuals may present with congenital heart defects, bicuspid aortic valve, aortic valve stenosis, thoracic aortic aneurysm or dissection, anomalies in brain structure, intracranial or posterior circulation vascular anomalies, cutaneous vascular malformations, cutis marmorata, and/or a phenotype compatible with Adams-Oliver syndrome (i.e. cutis aplasia, terminal limb defects, skull ossification defects).