has material basis in germline mutation in ELN supravalvular aortic stenosis https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/supravalvular_aortic_stenosis supravalvar aortic stenosis icd11.foundation:1066595728 SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. ICD10CM:Q25.3 OMIM:185500 GARD:0000743 NCIT:C85176 MedDRA:10042598 UMLS:C0003499 Orphanet:3193 aortic supravalvular stenosis SVAS supravalvular aortic stenosis (disease) MONDO:0008504 supravalvular aortic stenosis (disease) DOID:1929 MEDGEN:2001 SCTID:268185002 NANDO:2200285 HP:0004381 supravalvar aortic stenosis, Eisenberg type supravalvular aortic stenosis aortic valve stenosis cardiogenetic disease