(Q17125786)

English

Singleton Merten syndrome

medical condition

Singleton-Merten dysplasia
Singleton-Merten syndrome
SINGLETON-MERTEN SYNDROME 1
Singleton-Merten Syndrome type 1
SGMRT1

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

primary bone dysplasia with decreased bone density

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

type 1 interferonopathy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

immune dysregulation disease with immunodeficiency

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000115267/MONDO_0008429

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

733.29

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_85191

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

GARD rare disease ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Microsoft Academic ID

0 references

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Sitelinks

Wikipedia(1 entry)

enwiki Singleton Merten syndrome

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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