PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Marfan Syndrome
Synonyms
Definitions

A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

ID

http://www.phoc.org.cn/pmo/class/PMO_00036638

Database_Cross_Reference

NCI:C34807

CSP:1849-5992

ICD10CM:Q87.4

MDR:10026829

MTH:NOCODE

ICPC2P:A90003

ICD10AM:Q87.4

CHV:0000007748

COSTAR:U000435

LCH:U002816

ICD9CM:759.82

RCD:PKy2.

MSH:D008382

SNOMEDCT_US:268359006

SNMI:D6-90800

MEDLINEPLUS:939

DO:DOID:14323

SNOMEDCT_US:157033002

ICD10CM:Q87.40

MEDCIN:30409

ICD10:Q87.4

CCPSS:0063638

NDFRT:N0000001945

DXP:U001138

DXP:U002507

OMIM:154700

NCI_NICHD:C34807

SNOMEDCT_US:19346006

LCH_NW:sh87000793

SNM:D-3850

OMIM:134797

SNOMEDCT_US:157024004

Definition

A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

label

Marfan Syndrome

MCID

MC00007910

PMOID

PMO:00036638

prefixIRI

pmo:PMO_00036638

prefLabel

Marfan Syndrome

Synonym

Marfan Syndrome, Type I

Marfan's syndrome (diagnosis)

marfan's disease

MFS

marfan syndrome

Syndrome, Marfan

marfans syndrome

Marfan's syndrome (disorder)

MARFAN'S SYNDROME

Syndrome, Marfan's

Marfans syndrome

Marfan Syndrome [Disease/Finding]

Marfans Syndrome

MARFAN SYNDROME

MFS1

Marfan's Syndrome

Marfan syndrome

Marfan's syndrome, unspecified

Marfan's disease

marfan's syndrome

Marfan's syndrome

MARFAN SYNDROME, TYPE I

Tree Number

T9.3.9.22.10

T9.20.3.1.29

T9.8.4.16

T9.14.2.20

T9.8.3.3.1.29

T9.20.1.3.29

T9.8.3.1.15

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00004451

http://www.phoc.org.cn/pmo/class/PMO_00036558

http://www.phoc.org.cn/pmo/class/PMO_00040090

http://www.phoc.org.cn/pmo/class/PMO_00039222

http://www.phoc.org.cn/pmo/class/PMO_00036216

http://www.phoc.org.cn/pmo/class/PMO_00037611

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Delete Mapping To Ontology Source
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://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://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