(Q55787840)

English

GM3 synthase deficiency

No description defined

ST3GAL5-CDG

In more languages

Statements

class of disease

0 references

syndromic dyslipidemia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

congenital disorder of glycosylation with skin involvement

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

congenital disorder of glycosylation with epilepsy as a major feature

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000115525/MONDO_0018274

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_370933

0 references

Identifiers

GARD rare disease ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 (foundation)

0 references

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Sitelinks

Wikipedia(0 entries)

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Wikisource(0 entries)

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Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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