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Preferred Name

MARFAN SYNDROME
Synonyms

MFS
ID

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

MFS

MARFAN SYNDROME, TYPE I

MFS1
cui

C0024796

C4721845
Gene Locus

15q21.1
Gene Symbol

GPHYSD2

WMS2

ACMICD

MFS1

SSKS

ECTOL1

FBN1

MFLS
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU001164
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/ICD10/Q87.4 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.obolibrary.org/obo/DOID_14323 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_14323 Human Disease Ontology / 人类疾病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34807 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.4 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.40 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/LNC/LA29643-6 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LA29643-6 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://www.orpha.net/ORDO/Orphanet_558 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007947 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007947 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LD28.01 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024796 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024796 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q87.4 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D008382 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D008382 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D008382 Medical Subject Headings / 医学主题词表 LOOM