Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

MARFAN SYNDROME
Synonyms

MFS1

MFS

MARFAN SYNDROME, TYPE I
ID

http://purl.bioontology.org/ontology/OMIM/154700
altLabel

MFS1

MFS

MARFAN SYNDROME, TYPE I
cui

C4721845

C0024796
Gene Locus

15q21.1
Gene Symbol

FBN1

SSKS

ECTOL1

MFS1

GPHYSD2

MFLS

ACMICD

WMS2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU005509

http://purl.bioontology.org/ontology/OMIM/MTHU036831

http://purl.bioontology.org/ontology/OMIM/MTHU036519

http://purl.bioontology.org/ontology/OMIM/MTHU001150

http://purl.bioontology.org/ontology/OMIM/MTHU001469

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU000191

http://purl.bioontology.org/ontology/OMIM/MTHU005403

http://purl.bioontology.org/ontology/OMIM/MTHU017258

http://purl.bioontology.org/ontology/OMIM/MTHU041346

http://purl.bioontology.org/ontology/OMIM/MTHU017255

http://purl.bioontology.org/ontology/OMIM/MTHU000039

http://purl.bioontology.org/ontology/OMIM/MTHU017262

http://purl.bioontology.org/ontology/OMIM/MTHU036341

http://purl.bioontology.org/ontology/OMIM/MTHU000607

http://purl.bioontology.org/ontology/OMIM/MTHU017254

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU017266

http://purl.bioontology.org/ontology/OMIM/MTHU013604

http://purl.bioontology.org/ontology/OMIM/MTHU017268

http://purl.bioontology.org/ontology/OMIM/MTHU013224

http://purl.bioontology.org/ontology/OMIM/MTHU037273

http://purl.bioontology.org/ontology/OMIM/MTHU017256

http://purl.bioontology.org/ontology/OMIM/MTHU007337

http://purl.bioontology.org/ontology/OMIM/MTHU001783

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU017273

http://purl.bioontology.org/ontology/OMIM/MTHU001627

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU004643

http://purl.bioontology.org/ontology/OMIM/MTHU001172

http://purl.bioontology.org/ontology/OMIM/MTHU001164

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU001151

http://purl.bioontology.org/ontology/OMIM/MTHU017275

http://purl.bioontology.org/ontology/OMIM/MTHU017277

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU001471

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU017252

http://purl.bioontology.org/ontology/OMIM/MTHU017249

http://purl.bioontology.org/ontology/OMIM/MTHU017257

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU017272

http://purl.bioontology.org/ontology/OMIM/MTHU009825

http://purl.bioontology.org/ontology/OMIM/MTHU004673

http://purl.bioontology.org/ontology/OMIM/MTHU017260

http://purl.bioontology.org/ontology/OMIM/MTHU005753

http://purl.bioontology.org/ontology/OMIM/MTHU001463

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU067261

http://purl.bioontology.org/ontology/OMIM/MTHU017269

http://purl.bioontology.org/ontology/OMIM/MTHU017259

http://purl.bioontology.org/ontology/OMIM/MTHU000604

http://purl.bioontology.org/ontology/OMIM/MTHU017265

http://purl.bioontology.org/ontology/OMIM/MTHU017270

http://purl.bioontology.org/ontology/OMIM/MTHU017253

http://purl.bioontology.org/ontology/OMIM/MTHU017263

http://purl.bioontology.org/ontology/OMIM/MTHU016219

http://purl.bioontology.org/ontology/OMIM/MTHU017274

http://purl.bioontology.org/ontology/OMIM/MTHU001468

http://purl.bioontology.org/ontology/OMIM/MTHU013074

http://purl.bioontology.org/ontology/OMIM/MTHU017264

http://purl.bioontology.org/ontology/OMIM/MTHU036896

http://purl.bioontology.org/ontology/OMIM/MTHU017267

http://purl.bioontology.org/ontology/OMIM/MTHU017276

http://purl.bioontology.org/ontology/OMIM/MTHU008431

http://purl.bioontology.org/ontology/OMIM/MTHU000336
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

248750
notation

154700
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MARFAN SYNDROME
Scope Statement

Caused by mutation in the fibrillin 1 gene (FBN1, 134797.0001) [MOLECULAR BASIS]

About 25% of cases due to new mutations [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D008382 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/1003407000 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1003407000 SNOMEDCT 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/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/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://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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34807 NCIT LOOM
http://nanbyodata.jp/ontology/NANDO_1200644 NANDO LOOM