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Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Marfan_syndrome> ?p ?o. }

• Marfan_syndrome abstract "Marfan syndrome (also called Marfan's syndrome) is a genetic disorder caused by the misfolding of the protein fibrillin-1. Fibrillin-1 is coded by the gene FBN1.People with Marfan tend to be unusually tall, with long limbs and long, thin fingers. Marfan syndrome is an autosomal dominant disorder, meaning that people who inherit only one copy of the Marfan FBN1 gene from either parent will develop Marfan syndrome and be able to transmit it to their children.Marfan syndrome has various expressions ranging from mild to severe: the most serious complications are defects of the heart valves and aorta. Additionally, it may affect the lungs, eyes, dural sac surrounding the spinal cord, the skeleton, and the hard palate.Marfan syndrome is known as a connective tissue disorder. Fibrillin-1 protein forms fibers in connective tissue. In addition to providing structural support, the normal fibrillin-1 protein also contributes to cell signaling activity, binding to the protein transforming growth factor beta (TGF-β). Mis-regulated TGF-β has deleterious effects on vascular smooth muscle development and the integrity of the extracellular matrix. Researchers now believe, secondary to mutated structural fibrillin, excessive TGF-β at the lungs, heart valves, and aorta weakens the tissues and causes the features of Marfan syndrome. Since angiotensin II receptor antagonists (ARBs) also reduce TGF-β, ARBs (such as losartan) have been tested in a small sample of young, severely affected people with Marfan syndrome. In some, the growth of the aorta was reduced.Marfan syndrome is named after Antoine Marfan, the French pediatrician who first described the condition in 1896. The gene linked to the disease was first identified by Hal Dietz and Francesco Ramirez in 1991.".
• Marfan_syndrome diseasesdb "7845".
• Marfan_syndrome emedicineSubject "ped".
• Marfan_syndrome emedicineTopic "1372".
• Marfan_syndrome icd10 "Q87.4".
• Marfan_syndrome icd9 "759.82".
• Marfan_syndrome medlineplus "000418".
• Marfan_syndrome meshId "D008382".
• Marfan_syndrome omim "154700".
• Marfan_syndrome thumbnail Myxomatous_aortic_valve.jpg?width=300.
• Marfan_syndrome wikiPageExternalLink marfan_trust_publications.
• Marfan_syndrome wikiPageExternalLink 5201851a.html.
• Marfan_syndrome wikiPageExternalLink books.
• Marfan_syndrome wikiPageExternalLink NBK1335.
• Marfan_syndrome wikiPageExternalLink OC_Exp.php?lng=EN&Expert=558.
• Marfan_syndrome wikiPageID "45475".
• Marfan_syndrome wikiPageRevisionID "606094021".
• Marfan_syndrome caption "Micrograph demonstrating myxomatous degeneration of the aortic valve, a common manifestation of Marfan syndrome".
• Marfan_syndrome diseasesdb "7845".
• Marfan_syndrome emedicinesubj "ped".
• Marfan_syndrome emedicinetopic "1372".
• Marfan_syndrome genereviewsname "Marfan Syndrome".
• Marfan_syndrome genereviewsnbk "NBK1335".
• Marfan_syndrome hasPhotoCollection Marfan_syndrome.
• Marfan_syndrome icd "759.82".
• Marfan_syndrome icd "Q87.4".
• Marfan_syndrome medlineplus "418".
• Marfan_syndrome meshid "D008382".
• Marfan_syndrome name "Marfan syndrome".
• Marfan_syndrome omim "154700".
• Marfan_syndrome wordnet_type synset-disease-noun-1.
• Marfan_syndrome subject Category:Abnormalities_of_dermal_fibrous_and_elastic_tissue.
• Marfan_syndrome subject Category:Autosomal_dominant_disorders.
• Marfan_syndrome subject Category:Cytoskeletal_defects.
• Marfan_syndrome subject Category:Diseases_involving_the_fasciae.
• Marfan_syndrome subject Category:Syndromes.
• Marfan_syndrome subject Category:Systemic_connective_tissue_disorders.
• Marfan_syndrome type AbnormalitiesOfDermalFibrousAndElasticTissue.
• Marfan_syndrome type Abnormality114501726.
• Marfan_syndrome type Abstraction100002137.
• Marfan_syndrome type Attribute100024264.
• Marfan_syndrome type Cognition100023271.
• Marfan_syndrome type Complex105870365.
• Marfan_syndrome type Concept105835747.
• Marfan_syndrome type Condition113920835.
• Marfan_syndrome type Content105809192.
• Marfan_syndrome type CytoskeletalDefects.
• Marfan_syndrome type Defect114464005.
• Marfan_syndrome type Disease114070360.
• Marfan_syndrome type Disorder114052403.
• Marfan_syndrome type Idea105833840.
• Marfan_syndrome type IllHealth114052046.
• Marfan_syndrome type Illness114061805.
• Marfan_syndrome type Imperfection114462666.
• Marfan_syndrome type PathologicalState114051917.
• Marfan_syndrome type PhysicalCondition114034177.
• Marfan_syndrome type PsychologicalFeature100023100.
• Marfan_syndrome type State100024720.
• Marfan_syndrome type Syndrome105870790.
• Marfan_syndrome type Syndromes.
• Marfan_syndrome type SystemicConnectiveTissueDisorders.
• Marfan_syndrome type Whole105869584.
• Marfan_syndrome type Disease.
• Marfan_syndrome type AilmentCondition.
• Marfan_syndrome type Situation.
• Marfan_syndrome comment "Marfan syndrome (also called Marfan's syndrome) is a genetic disorder caused by the misfolding of the protein fibrillin-1. Fibrillin-1 is coded by the gene FBN1.People with Marfan tend to be unusually tall, with long limbs and long, thin fingers.".
• Marfan_syndrome label "Marfan syndrome".
• Marfan_syndrome label "Marfan-Syndrom".
• Marfan_syndrome label "Sindrome di Marfan".
• Marfan_syndrome label "Syndrome de Marfan".
• Marfan_syndrome label "Syndroom van Marfan".
• Marfan_syndrome label "Síndrome de Marfan".
• Marfan_syndrome label "Síndrome de Marfan".
• Marfan_syndrome label "Zespół Marfana".
• Marfan_syndrome label "Синдром Марфана".
• Marfan_syndrome label "متلازمة مارفان".
• Marfan_syndrome label "マルファン症候群".
• Marfan_syndrome label "馬凡氏症候群".
• Marfan_syndrome sameAs Marfanův_syndrom.
• Marfan_syndrome sameAs Marfan-Syndrom.
• Marfan_syndrome sameAs Síndrome_de_Marfan.
• Marfan_syndrome sameAs Marfan_sindrome.
• Marfan_syndrome sameAs Syndrome_de_Marfan.
• Marfan_syndrome sameAs Sindrom_Marfan.
• Marfan_syndrome sameAs Sindrome_di_Marfan.
• Marfan_syndrome sameAs マルファン症候群.
• Marfan_syndrome sameAs 마르판_증후군.
• Marfan_syndrome sameAs Syndroom_van_Marfan.
• Marfan_syndrome sameAs Zespół_Marfana.
• Marfan_syndrome sameAs Síndrome_de_Marfan.
• Marfan_syndrome sameAs m.0cc6n.
• Marfan_syndrome sameAs Q208562.
• Marfan_syndrome sameAs Q208562.
• Marfan_syndrome sameAs 717.
• Marfan_syndrome sameAs Marfan_syndrome.
• Marfan_syndrome wasDerivedFrom Marfan_syndrome?oldid=606094021.
• Marfan_syndrome depiction Myxomatous_aortic_valve.jpg.
• Marfan_syndrome isPrimaryTopicOf Marfan_syndrome.
• Marfan_syndrome name "Marfan syndrome".