(Q3508669)

English

Loeys-Dietz syndrome

Human disease

Aortic aneurysm syndrome due to TGF-beta receptors anomalies

In more languages

Statements

0 references

class of disease

0 references

autosomal dominant disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare disease with thoracic aortic aneurysm and aortic dissection

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

health specialty

0 references

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medical genetics

0 references

genetic association

1 reference

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

2 references

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000092969/MONDO_0018954

based on heuristic

inferred from an Open Targets association score over 0.7

2 references

Heterozygous TGFBR2 mutations in Marfan syndrome

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000163513/MONDO_0018954

based on heuristic

inferred from an Open Targets association score over 0.7

4 references

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/8a546ce2-432c-4c8a-90e5-97293d7938be--2019-03-27T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a546ce2-432c-4c8a-90e5-97293d7938be-2019-03-27T160000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000106799/MONDO_0018954

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

759.89

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

NCI Thesaurus ID

C75006

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

http://purl.obolibrary.org/obo/DOID_0050466

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0050466

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_60030

0 references

Identifiers

MeSH descriptor ID

mapping relation type

subject named as

Loeys-Dietz Syndrome

1 reference

28 July 2018

Monarch Disease Ontology release 2018-06-29

C05.660.207.532

0 references

C14.907.055.050.362

0 references

C14.907.055.239.587

0 references

C14.907.109.139.587

0 references

C16.131.077.537

0 references

0 references

PatientsLikeMe condition ID

loeys-dietz-syndrome

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Microsoft Academic ID

0 references

0 references

0 references

1 reference

imported from Wikimedia project

Spanish Wikipedia

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

Loeys-Dietz-Syndrome

1 reference

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Loeys–Dietz_syndrome&oldid=951518593

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

WikiProjectMed ID

Loeys–Dietz syndrome

0 references

Sitelinks

Wikipedia(16 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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