Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Ba703e7d15975663a63b99b0263aaf86a> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Ba703e7d15975663a63b99b0263aaf86a hasDbXref "https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome" @default.
- Ba703e7d15975663a63b99b0263aaf86a type Axiom @default.
- Ba703e7d15975663a63b99b0263aaf86a annotatedProperty IAO_0000115 @default.
- Ba703e7d15975663a63b99b0263aaf86a annotatedSource MONDO_0007947 @default.
- Ba703e7d15975663a63b99b0263aaf86a annotatedTarget "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." @default.