Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Marfan Syndrome
Synonyms

Marfans Syndrome
Definitions

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
ID

http://purl.bioontology.org/ontology/MESH/D008382
altLabel

Marfans Syndrome

Syndrome, Marfan's

Marfan's Syndrome

Marfan Syndrome, Type I

Syndrome, Marfan
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0024796

C4721845
DC

1
definition

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
DX

19850101
FX

D055947

D056846
HN

1985; use ARACHNODACTYLY 1963-1984
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D056846

http://purl.bioontology.org/ontology/MESH/D055947
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D015785

http://purl.bioontology.org/ontology/MESH/D001816

http://purl.bioontology.org/ontology/MESH/D010985

http://purl.bioontology.org/ontology/MESH/D000745

http://purl.bioontology.org/ontology/MESH/D003420

http://purl.bioontology.org/ontology/MESH/D014898

http://purl.bioontology.org/ontology/MESH/D056889

http://purl.bioontology.org/ontology/MESH/D020294

http://purl.bioontology.org/ontology/MESH/D009372

http://purl.bioontology.org/ontology/MESH/D058631

http://purl.bioontology.org/ontology/MESH/D056732

http://purl.bioontology.org/ontology/MESH/D003310

http://purl.bioontology.org/ontology/MESH/D025861

http://purl.bioontology.org/ontology/MESH/D000071380

http://purl.bioontology.org/ontology/MESH/D010004

http://purl.bioontology.org/ontology/MESH/D000073839

http://purl.bioontology.org/ontology/MESH/D016878

http://purl.bioontology.org/ontology/MESH/D009958

http://purl.bioontology.org/ontology/MESH/D001017

http://purl.bioontology.org/ontology/MESH/D015434

http://purl.bioontology.org/ontology/MESH/D008133

http://purl.bioontology.org/ontology/MESH/D008180

http://purl.bioontology.org/ontology/MESH/D058165

http://purl.bioontology.org/ontology/MESH/D053306

http://purl.bioontology.org/ontology/MESH/D003095

http://purl.bioontology.org/ontology/MESH/D056733

http://purl.bioontology.org/ontology/MESH/D058497

http://purl.bioontology.org/ontology/MESH/D059446

http://purl.bioontology.org/ontology/MESH/D050174

http://purl.bioontology.org/ontology/MESH/D044542

http://purl.bioontology.org/ontology/MESH/D003882

http://purl.bioontology.org/ontology/MESH/D009386

http://purl.bioontology.org/ontology/MESH/D010381

http://purl.bioontology.org/ontology/MESH/D040181

http://purl.bioontology.org/ontology/MESH/D000072661

http://purl.bioontology.org/ontology/MESH/D005877

http://purl.bioontology.org/ontology/MESH/D002481

http://purl.bioontology.org/ontology/MESH/D031845

http://purl.bioontology.org/ontology/MESH/D004476

http://purl.bioontology.org/ontology/MESH/D001260

http://purl.bioontology.org/ontology/MESH/D056846

http://purl.bioontology.org/ontology/MESH/D050010

http://purl.bioontology.org/ontology/MESH/D017520

http://purl.bioontology.org/ontology/MESH/D004314

http://purl.bioontology.org/ontology/MESH/D058495

http://purl.bioontology.org/ontology/MESH/D019082

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D020271

http://purl.bioontology.org/ontology/MESH/D016738

http://purl.bioontology.org/ontology/MESH/D017204

http://purl.bioontology.org/ontology/MESH/D009261

http://purl.bioontology.org/ontology/MESH/D065768

http://purl.bioontology.org/ontology/MESH/D000699

http://purl.bioontology.org/ontology/MESH/D016715

http://purl.bioontology.org/ontology/MESH/D014188

http://purl.bioontology.org/ontology/MESH/D012594

http://purl.bioontology.org/ontology/MESH/D004541

http://purl.bioontology.org/ontology/MESH/D014286

http://purl.bioontology.org/ontology/MESH/D009634

http://purl.bioontology.org/ontology/MESH/D009136

http://purl.bioontology.org/ontology/MESH/D000077428

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D019571

http://purl.bioontology.org/ontology/MESH/D000071070

http://purl.bioontology.org/ontology/MESH/D019280

http://purl.bioontology.org/ontology/MESH/D002636

http://purl.bioontology.org/ontology/MESH/D056660

http://purl.bioontology.org/ontology/MESH/D056685

http://purl.bioontology.org/ontology/MESH/D007849

http://purl.bioontology.org/ontology/MESH/D008178

http://purl.bioontology.org/ontology/MESH/D054179

http://purl.bioontology.org/ontology/MESH/D012779

http://purl.bioontology.org/ontology/MESH/D056770

http://purl.bioontology.org/ontology/MESH/D056731

http://purl.bioontology.org/ontology/MESH/D054975

http://purl.bioontology.org/ontology/MESH/D010023

http://purl.bioontology.org/ontology/MESH/D014424

http://purl.bioontology.org/ontology/MESH/D046589

http://purl.bioontology.org/ontology/MESH/D020331

http://purl.bioontology.org/ontology/MESH/D053840

http://purl.bioontology.org/ontology/MESH/D011561

http://purl.bioontology.org/ontology/MESH/D007979

http://purl.bioontology.org/ontology/MESH/D056730

http://purl.bioontology.org/ontology/MESH/D025063

http://purl.bioontology.org/ontology/MESH/D058747

http://purl.bioontology.org/ontology/MESH/D010013

http://purl.bioontology.org/ontology/MESH/D015211

http://purl.bioontology.org/ontology/MESH/D058502

http://purl.bioontology.org/ontology/MESH/D010411

http://purl.bioontology.org/ontology/MESH/D058496

http://purl.bioontology.org/ontology/MESH/D056735

http://purl.bioontology.org/ontology/MESH/D006712

http://purl.bioontology.org/ontology/MESH/D008661

http://purl.bioontology.org/ontology/MESH/D007690

http://purl.bioontology.org/ontology/MESH/D004413

http://purl.bioontology.org/ontology/MESH/D052159

http://purl.bioontology.org/ontology/MESH/D003483

http://purl.bioontology.org/ontology/MESH/D012216

http://purl.bioontology.org/ontology/MESH/D054083

http://purl.bioontology.org/ontology/MESH/D003057

http://purl.bioontology.org/ontology/MESH/D003966

http://purl.bioontology.org/ontology/MESH/D056830

http://purl.bioontology.org/ontology/MESH/D012595

http://purl.bioontology.org/ontology/MESH/D029502

http://purl.bioontology.org/ontology/MESH/D065134

http://purl.bioontology.org/ontology/MESH/D007619

http://purl.bioontology.org/ontology/MESH/D013771

http://purl.bioontology.org/ontology/MESH/D000073842

http://purl.bioontology.org/ontology/MESH/D001506

http://purl.bioontology.org/ontology/MESH/D018636

http://purl.bioontology.org/ontology/MESH/D001478

http://purl.bioontology.org/ontology/MESH/D049970

http://purl.bioontology.org/ontology/MESH/D006343

http://purl.bioontology.org/ontology/MESH/D004392

http://purl.bioontology.org/ontology/MESH/D006453

http://purl.bioontology.org/ontology/MESH/D003330

http://purl.bioontology.org/ontology/MESH/D008947

http://purl.bioontology.org/ontology/MESH/D017436

http://purl.bioontology.org/ontology/MESH/D005736

http://purl.bioontology.org/ontology/MESH/D030981

http://purl.bioontology.org/ontology/MESH/D057088

http://purl.bioontology.org/ontology/MESH/D014927

http://purl.bioontology.org/ontology/MESH/D016142

http://purl.bioontology.org/ontology/MESH/D007184

http://purl.bioontology.org/ontology/MESH/D024741

http://purl.bioontology.org/ontology/MESH/D004374

http://purl.bioontology.org/ontology/MESH/D056684

http://purl.bioontology.org/ontology/MESH/D003550

http://purl.bioontology.org/ontology/MESH/D014849

http://purl.bioontology.org/ontology/MESH/D007870

http://purl.bioontology.org/ontology/MESH/D002357

http://purl.bioontology.org/ontology/MESH/D019896

http://purl.bioontology.org/ontology/MESH/D000074079

http://purl.bioontology.org/ontology/MESH/D054062

http://purl.bioontology.org/ontology/MESH/D003635

http://purl.bioontology.org/ontology/MESH/D054463

http://purl.bioontology.org/ontology/MESH/D011218

http://purl.bioontology.org/ontology/MESH/D003914

http://purl.bioontology.org/ontology/MESH/D055947

http://purl.bioontology.org/ontology/MESH/D010015

http://purl.bioontology.org/ontology/MESH/D054877

http://purl.bioontology.org/ontology/MESH/D012873

http://purl.bioontology.org/ontology/MESH/D011535

http://purl.bioontology.org/ontology/MESH/D066166

http://purl.bioontology.org/ontology/MESH/D056734

http://purl.bioontology.org/ontology/MESH/D018785

http://purl.bioontology.org/ontology/MESH/D054000

http://purl.bioontology.org/ontology/MESH/D004437

http://purl.bioontology.org/ontology/MESH/D012410

http://purl.bioontology.org/ontology/MESH/D005660

http://purl.bioontology.org/ontology/MESH/D004387

http://purl.bioontology.org/ontology/MESH/D003410

http://purl.bioontology.org/ontology/MESH/D000312

http://purl.bioontology.org/ontology/MESH/D012415
Machine permutation

1985; see ARACHNODACTYLY 1963-1984
Mapped from

http://purl.bioontology.org/ontology/MESH/C531742

http://purl.bioontology.org/ontology/MESH/C537724

http://purl.bioontology.org/ontology/MESH/C538192

http://purl.bioontology.org/ontology/MESH/C565411

http://purl.bioontology.org/ontology/MESH/C537328

http://purl.bioontology.org/ontology/MESH/C563814

http://purl.bioontology.org/ontology/MESH/C563639

http://purl.bioontology.org/ontology/MESH/C565410

http://purl.bioontology.org/ontology/MESH/C535911
MDA

19990101
MMR

20130708
MN

C16.131.240.400.720

C14.240.400.725

C17.300.500

C05.116.099.674

C14.280.400.725

C16.131.077.550

C16.320.540
notation

D008382
prefLabel

Marfan Syndrome
TERMUI

T811740

T024932

T024931
TH

UNK (19XX)

NLM (1966)

ORD (2010)

OMIM (2013)

GHR (2014)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D001848

http://purl.bioontology.org/ontology/MESH/D030342

http://purl.bioontology.org/ontology/MESH/D006330

http://purl.bioontology.org/ontology/MESH/D000015

http://purl.bioontology.org/ontology/MESH/D003240
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http://purl.bioontology.org/ontology/ICD10/Q87.4 International Classification of Diseases, Version 10 CUI
http://purl.obolibrary.org/obo/DOID_14323 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34807 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.4 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.40 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/134797 Online Mendelian Inheritance in Man CUI
http://purl.bmicc.cn/ontology/ICD11CN/LD28.01 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/OMIM/154700 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/154700 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024796 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024796 MedlinePlus Health Topics LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q87.4 International Classification of Diseases, 10th Edition, China CUI