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Preferred Name

Marfan syndrome
Synonyms

arachnodactyly
Definitions

disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast"; inherited as an autosomal dominant trait.
ID

http://purl.bioontology.org/ontology/CSP/1849-5992
altLabel

arachnodactyly
cui

C0003706

C0024796
definition

disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast"; inherited as an autosomal dominant trait.
DID

1849-5992
Inverse of RB

http://purl.bioontology.org/ontology/CSP/2715-1497

http://purl.bioontology.org/ontology/CSP/0726-3953

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/0729-7550

http://purl.bioontology.org/ontology/CSP/1254-7727
Inverse of RO

http://purl.bioontology.org/ontology/CSP/4006-0036

http://purl.bioontology.org/ontology/CSP/1254-7792
notation

1849-5992
prefLabel

Marfan syndrome
tui

T047

T019
subClassOf

http://purl.bioontology.org/ontology/CSP/2715-1497

http://purl.bioontology.org/ontology/CSP/0726-3953

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/0729-7550

http://purl.bioontology.org/ontology/CSP/1254-7727
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http://purl.bioontology.org/ontology/MEDDRA/10063847 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181013 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/XE2uf RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10063847 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/62250003 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU047334 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU001151 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU074489 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/62250003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10063847 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D054119 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D054119 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-12260 SNMI CUI
http://purl.bioontology.org/ontology/RCD/Xa86f RCD CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012427 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU016459 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/19346006 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D008382 MESH 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/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://purl.bioontology.org/ontology/MESH/D008382 MESH 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://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