has material basis in germline mutation in FBN1 autosomal dominant disease syndromic disease skeletal system disorder Marfan syndrome https://github.com/monarch-initiative/mondo/issues/3155 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/9097 https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome https://www.malacards.org/card/marfan_syndrome Orphanet:558 Marfan syndrome NANDO:2200968 MFS1 NCIT:C34807 icd11.foundation:236564145 Marfan syndrome, type 1 ICD9:759.82 MONDO:0007947 ICD10CM:Q87.4 MFS GARD:0016535 OMIM:154700 Marfan's syndrome SCTID:19346006 MESH:D008382 DOID:14323 UMLS:C0024796 NANDO:1200644 Marfan syndrome type 1 NORD:1403 MEDGEN:44287 A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person. MedDRA:10026829 Orphanet:284963 Marfan and Marfan-related disorder obsolete rare disease with thoracic aortic aneurysm and aortic dissection developmental defect during embryogenesis obsolete syndromic myopia obsolete syndromic keratoconus obsolete lens position anomaly