Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Marfan syndrome
Synonyms

MFS
Definitions

Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
ID

http://www.orpha.net/ORDO/Orphanet_558
alternative_term

MFS
definition

Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=558
has_age_of_onset

All ages
has_inheritance

Autosomal dominant
hasDbXref

MeSH:D008382

OMIM:610168

ICD-10:Q87.4

ICD-11:LD28.01

OMIM:154700

UMLS:C0024796

MedDRA:10026829
label

Marfan syndrome
notation

ORPHA:558
part_of

http://www.orpha.net/ORDO/Orphanet_139030

http://www.orpha.net/ORDO/Orphanet_519292

http://www.orpha.net/ORDO/Orphanet_284993

http://www.orpha.net/ORDO/Orphanet_522554

http://www.orpha.net/ORDO/Orphanet_498448

http://www.orpha.net/ORDO/Orphanet_522564

http://www.orpha.net/ORDO/Orphanet_98623

http://www.orpha.net/ORDO/Orphanet_285014
prefixIRI

ORDO:Orphanet_558
prefLabel

Marfan syndrome
present_in

United States AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000

Worldwide AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000

Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000

United Kingdom AND has_birth_prevalence_average_value : 10.2 AND has_birth_prevalence_range : 1-5 / 10 000

Europe AND has_annual_incidence_average_value : 25.0 AND has_annual_incidence_range : 1-5 / 10 000

United Kingdom AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000
treeView

http://www.orpha.net/ORDO/Orphanet_139030

http://www.orpha.net/ORDO/Orphanet_519292

http://www.orpha.net/ORDO/Orphanet_284993

http://www.orpha.net/ORDO/Orphanet_522554

http://www.orpha.net/ORDO/Orphanet_498448

http://www.orpha.net/ORDO/Orphanet_522564

http://www.orpha.net/ORDO/Orphanet_98623

http://www.orpha.net/ORDO/Orphanet_285014
subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493
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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_558 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_558 EFO SAME_URI
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://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
http://www.gamuts.net/entity#Marfan_syndrome GAMUTS REST