| http://purl.uniprot.org/diseases/6191 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disease characterized by early-onset thoracic aortic aneurysm, aneurysm and tortuosity of other arteries, motor developmental delay, connective tissue findings such as joint hypermobility, skin laxity and hernias, and craniofacial dysmorphic features. Immune dysregulation has been reported in some patients."xsd:string |