Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

FIBRILLIN 1
Synonyms

MARFAN SYNDROME, AUTOSOMAL RECESSIVE

MASS SYNDROME

MARFAN SYNDROME, MILD VARIABLE

MARFAN SYNDROME

GELEOPHYSIC DYSPLASIA 2

MARFAN SYNDROME, NEONATAL

WEILL-MARCHESANI SYNDROME 2

FIBRILLIN

MARFAN SYNDROME, CLASSIC

ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT

MARFAN SYNDROME, MILD

ACROMICRIC DYSPLASIA

MARFAN SYNDROME, SEVERE CLASSIC

FNB1 POLYMORPHISM

MARFAN SYNDROME, ATYPICAL

FBN1

FBN

STIFF SKIN SYNDROME

MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME
ID

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

MARFAN SYNDROME, AUTOSOMAL RECESSIVE

MASS SYNDROME

MARFAN SYNDROME, MILD VARIABLE

MARFAN SYNDROME

GELEOPHYSIC DYSPLASIA 2

MARFAN SYNDROME, NEONATAL

WEILL-MARCHESANI SYNDROME 2

FIBRILLIN

MARFAN SYNDROME, CLASSIC

ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT

MARFAN SYNDROME, MILD

ACROMICRIC DYSPLASIA

MARFAN SYNDROME, SEVERE CLASSIC

FNB1 POLYMORPHISM

MARFAN SYNDROME, ATYPICAL

FBN1

FBN

STIFF SKIN SYNDROME

MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME
cui

C1861456

C4016055

C3541518

C4016056

C3280054

C4310796

C4016053

C1858556

C4016052

C4016054

C4016059

C1869115

C0024796

C4016060

C1414542

C0265287

C4016057
Gene Locus

15q21.1
Gene Symbol

FBN1

SSKS

ECTOL1

MFS1

GPHYSD2

MFLS

ACMICD

WMS2
Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene with known sequence
notation

134797
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

FIBRILLIN 1
tui

T047

T033

T019

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10085085 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C536030 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/763839005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D056846 MSHFRE CUI
http://purl.bioontology.org/ontology/LNC/LP35579-9 LOINC CUI
http://purl.bioontology.org/ontology/SCTSPA/254090007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10085085 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10085085 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C566112 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/765187004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/765187004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/763839005 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D056846 MESH 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://purl.bioontology.org/ontology/MESH/C535662 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254090007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10083854 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/X78Ai RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10083854 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10083854 MEDDRA CUI
http://www.limics.org/hrdo/rdfns#gen_id_16032 HRDO LOOM
http://purl.obolibrary.org/obo/NCIT_C32596 BERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00020945 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C32596 NCIT LOOM
http://purl.jp/bio/4/id/200906015683059904 IOBC LOOM
http://purl.obolibrary.org/obo/MESH_D000071838 BERO LOOM
http://purl.obolibrary.org/obo/HINO_0005985 HINO LOOM
http://purl.org/skeletome/bonedysplasia#P000063 BDO LOOM
http://purl.obolibrary.org/obo/PR_000007362 PR LOOM
http://purl.obolibrary.org/obo/PR_000007362 CIDO LOOM
http://purl.obolibrary.org/obo/PR_000007362 NIFSTD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#25124 OCHV LOOM
http://www.orpha.net/ORDO/Orphanet_121752 ORDO LOOM
http://purl.bioontology.org/ontology/MESH/D000071838 MESH LOOM