Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

FIBRILLIN 1

Synonyms

MARFAN LIPODYSTROPHY SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/134797

altLabel

MARFAN LIPODYSTROPHY SYNDROME

WEILL-MARCHESANI SYNDROME 2

MARFAN SYNDROME, SEVERE CLASSIC

FNB1 POLYMORPHISM

MARFAN SYNDROME

STIFF SKIN SYNDROME

ACROMICRIC DYSPLASIA

MARFAN SYNDROME, ATYPICAL

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

MARFAN SYNDROME, AUTOSOMAL RECESSIVE

MARFAN SYNDROME, MILD

MARFAN SYNDROME, CLASSIC

MARFAN SYNDROME, MILD VARIABLE

FIBRILLIN

MASS SYNDROME

MARFAN SYNDROME, NEONATAL

GELEOPHYSIC DYSPLASIA 2

FBN1

FBN

ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT

cui

C4016052

C4016059

C1869115

C0024796

C4016055

C4015968

C4016057

C3541518

C4016056

C0265287

C4016053

C1858556

C1414542

C4016054

C1861456

C4016060

C4310796

C3280054

Gene Locus

15q21.1

Gene Symbol

GPHYSD2

WMS2

ACMICD

MFS1

SSKS

ECTOL1

FBN1

MFLS

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/134797.0017

http://purl.bioontology.org/ontology/OMIM/134797.0036

http://purl.bioontology.org/ontology/OMIM/134797.0049

http://purl.bioontology.org/ontology/OMIM/134797.0029

http://purl.bioontology.org/ontology/OMIM/134797.0063

http://purl.bioontology.org/ontology/OMIM/134797.0043

http://purl.bioontology.org/ontology/OMIM/134797.0009

http://purl.bioontology.org/ontology/OMIM/134797.0057

http://purl.bioontology.org/ontology/OMIM/134797.0037

http://purl.bioontology.org/ontology/OMIM/134797.0056

http://purl.bioontology.org/ontology/OMIM/134797.0038

http://purl.bioontology.org/ontology/OMIM/134797.0068

http://purl.bioontology.org/ontology/OMIM/134797.0018

http://purl.bioontology.org/ontology/OMIM/134797.0069

http://purl.bioontology.org/ontology/OMIM/134797.0040

http://purl.bioontology.org/ontology/OMIM/134797.0020

http://purl.bioontology.org/ontology/OMIM/134797.0001

http://purl.bioontology.org/ontology/OMIM/134797.0060

http://purl.bioontology.org/ontology/OMIM/134797.0014

http://purl.bioontology.org/ontology/OMIM/134797.0045

http://purl.bioontology.org/ontology/OMIM/134797.0061

http://purl.bioontology.org/ontology/OMIM/134797.0041

http://purl.bioontology.org/ontology/OMIM/134797.0021

http://purl.bioontology.org/ontology/OMIM/134797.0006

http://purl.bioontology.org/ontology/OMIM/134797.0053

http://purl.bioontology.org/ontology/OMIM/134797.0022

http://purl.bioontology.org/ontology/OMIM/134797.0002

http://purl.bioontology.org/ontology/OMIM/134797.0054

http://purl.bioontology.org/ontology/OMIM/134797.0052

http://purl.bioontology.org/ontology/OMIM/134797.0033

http://purl.bioontology.org/ontology/OMIM/134797.0035

http://purl.bioontology.org/ontology/OMIM/134797.0032

http://purl.bioontology.org/ontology/OMIM/134797.0065

http://purl.bioontology.org/ontology/OMIM/134797.0013

http://purl.bioontology.org/ontology/OMIM/134797.0015

http://purl.bioontology.org/ontology/OMIM/134797.0034

http://purl.bioontology.org/ontology/OMIM/134797.0019

http://purl.bioontology.org/ontology/OMIM/134797.0066

http://purl.bioontology.org/ontology/OMIM/134797.0046

http://purl.bioontology.org/ontology/OMIM/134797.0026

http://purl.bioontology.org/ontology/OMIM/134797.0047

http://purl.bioontology.org/ontology/OMIM/134797.0008

http://purl.bioontology.org/ontology/OMIM/134797.0027

http://purl.bioontology.org/ontology/OMIM/134797.0007

http://purl.bioontology.org/ontology/OMIM/134797.0059

http://purl.bioontology.org/ontology/OMIM/134797.0039

http://purl.bioontology.org/ontology/OMIM/134797.0058

http://purl.bioontology.org/ontology/OMIM/134797.0067

http://purl.bioontology.org/ontology/OMIM/134797.0070

http://purl.bioontology.org/ontology/OMIM/134797.0048

http://purl.bioontology.org/ontology/OMIM/134797.0028

http://purl.bioontology.org/ontology/OMIM/134797.0050

http://purl.bioontology.org/ontology/OMIM/134797.0031

http://purl.bioontology.org/ontology/OMIM/134797.0030

http://purl.bioontology.org/ontology/OMIM/134797.0011

http://purl.bioontology.org/ontology/OMIM/134797.0010

http://purl.bioontology.org/ontology/OMIM/134797.0012

http://purl.bioontology.org/ontology/OMIM/134797.0062

http://purl.bioontology.org/ontology/OMIM/134797.0064

http://purl.bioontology.org/ontology/OMIM/134797.0042

http://purl.bioontology.org/ontology/OMIM/134797.0044

http://purl.bioontology.org/ontology/OMIM/134797.0004

http://purl.bioontology.org/ontology/OMIM/134797.0025

http://purl.bioontology.org/ontology/OMIM/134797.0023

http://purl.bioontology.org/ontology/OMIM/134797.0005

http://purl.bioontology.org/ontology/OMIM/134797.0003

http://purl.bioontology.org/ontology/OMIM/134797.0055

http://purl.bioontology.org/ontology/OMIM/134797.0016

http://purl.bioontology.org/ontology/OMIM/134797.0051

MIMTYPEMEANING

Gene with known sequence

notation

134797

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

FIBRILLIN 1

tui

T028

T019

T033

T047

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http://purl.bioontology.org/ontology/ICD10/Q87.4 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/LNC/LP35579-9 Logical Observation Identifier Names and Codes CUI
http://purl.obolibrary.org/obo/PR_000007362 Protein Ontology LOOM
http://purl.bioontology.org/ontology/MESH/C535662 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D056846 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.4 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D000071838 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.40 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C536030 Medical Subject Headings CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75338 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024796 MedlinePlus Health Topics CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q87.4 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/C566112 Medical Subject Headings CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C32596 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/D008382 Medical Subject Headings CUI