BioAssay Ontology

Last uploaded: February 21, 2024
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Preferred Name

Marfan syndrome
Synonyms

Marfan's syndrome
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. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_14323
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

SNOMEDCT_US_2020_03_01:19346006

OMIM:154700

UMLS_CUI:C0024796

ICD10CM:Q87.4

ICD9CM:759.82

MESH:D008382

GARD:6975

NCI:C34807
has exact match

MESH:D008382
has exact synonym

Marfan's syndrome
has_obo_namespace

disease_ontology
id

DOID:14323
imported from

http://purl.obolibrary.org/obo/doid.owl
in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus
label

Marfan syndrome
notation

DOID:14323
prefLabel

Marfan syndrome
textual 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.
subClassOf

http://purl.obolibrary.org/obo/DOID_5614

http://purl.obolibrary.org/obo/DOID_65

http://purl.obolibrary.org/obo/DOID_520
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14323 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_14323 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14323 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14323 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_14323 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14323 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_14323 FNS-H 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://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 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