Medical Subject Headings

Last uploaded: August 28, 2024
Preferred Name

Marfan Syndrome
Synonyms

Marfan Syndrome, Type II

Marfans Syndrome

Marfan's Syndrome

Marfan Like Connective Tissue Disorder

Marfan Syndrome Type 2

Marfan Syndrome, Type I

Marfan Syndrome Type 1

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; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.

ID

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

altLabel

Marfan Syndrome, Type II

Marfans Syndrome

Marfan's Syndrome

Marfan Like Connective Tissue Disorder

Marfan Syndrome Type 2

Marfan Syndrome, Type I

Marfan Syndrome Type 1

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

C2931058

C4721845

C0024796

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; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.

DX

19850101

FX

D055947

D056846

HN

1985; use ARACHNODACTYLY 1963-1984

Inverse of AQ

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/MESH/Q000469

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Inverse of RO

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

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

Machine permutation

1985; see ARACHNODACTYLY 1963-1984

Mapped from

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

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

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

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

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

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

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

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

MDA

19990101

MMR

20220523

MN

C17.300.500

C16.131.240.400.720

C14.240.400.725

C14.280.400.725

C16.320.540

C05.116.099.674

C16.131.077.550

notation

D008382

prefLabel

Marfan Syndrome

TERMUI

T001103232

T024931

T024932

T001103233

T001103234

T001103236

T811740

TH

OMIM (2013)

NLM (1966)

UNK (19XX)

NLM (2022)

GHR (2014)

ORD (2010)

tui

T047

subClassOf

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

http://purl.bioontology.org/ontology/MESH/D003240

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

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

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

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/1003407000 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1003407000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/154700 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/19346006 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/PKy2. RCD CUI
http://purl.bioontology.org/ontology/ICD9CM/759.82 ICD9CM CUI
http://purl.bioontology.org/ontology/OMIM/134797 OMIM CUI
http://purl.bioontology.org/ontology/ICPC2P/A90003 ICPC2P CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.4 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.40 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024796 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SNOMEDCT/19346006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-90800 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10026829 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D008382 MSHFRE CUI
http://purl.bioontology.org/ontology/HL7/C0024796 HL7 CUI
http://purl.bioontology.org/ontology/LNC/LA29643-6 LOINC CUI
http://purl.bioontology.org/ontology/CSP/1849-5992 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10026829 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001945 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10026829 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/154700 OMIM CUI
http://purl.bioontology.org/ontology/ICD10/Q87.4 ICD10 CUI
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_aa0eadbd_cef5_4cac_950c_1bfb5aa832bc STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_aa0eadbd_cef5_4cac_950c_1bfb5aa832bc CVAO LOOM
http://purl.org/skeletome/bonedysplasia#Marfan_syndrome BDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Marfan_s_Syndrome CSEO LOOM
http://www.orpha.net/ORDO/Orphanet_558 ORDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200968 NANDO LOOM
rgo:12511 GAMUTS LOOM
http://www.limics.org/hrdo/rdfns#pat_id_109 HRDO LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.82 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.82 NLMVS LOOM
http://localhost/plosthes.2017-1#3227 PLOSTHES LOOM
http://purl.obolibrary.org/obo/DERMO_0001790 DERMO LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.4 ICD10CM LOOM
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571342296272859278 ACVD_ONTOLOGY LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.400.725 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024796 MEDLINEPLUS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.550 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14671 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.540 RH-MESH LOOM
http://www.co-ode.org/ontologies/galen#MarfanSyndrome GALEN LOOM
http://purl.bioontology.org/ontology/HL7/C0024796 HL7 LOOM
http://purl.bioontology.org/ontology/LNC/LA29643-6 LOINC LOOM
http://purl.obolibrary.org/obo/OMIM_154700 CCO LOOM
http://identifiers.org/omim/154700 REXO LOOM
http://identifiers.org/omim/154700 GEXO LOOM
http://identifiers.org/omim/154700 RETO LOOM
http://purl.obolibrary.org/obo/DOID_14323 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14323 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14323 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14323 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14323 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14323 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14323 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_14323 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C34807 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0024796 OCHV LOOM
http://purl.bioontology.org/ontology/CSP/1849-5992 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.674 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.240.400.725 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14323 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D008382 RH-MESH LOOM
http://pat.nichd.nih.gov/maternalconditions/C0024796 PATMHC LOOM
http://purl.obolibrary.org/obo/MONDO_0007947 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007947 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007947 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007947 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.240.400.720 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0009452 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036638 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7748 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/154700 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34807 NCIT LOOM
http://nanbyodata.jp/ontology/NANDO_1200644 NANDO LOOM