(Q18424118)

English

phosphoenolpyruvate carboxykinase deficiency

No description defined

PEPCK deficiency
Phosphoenolpyruvate Carboxykinase (GTP) Deficiency

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Statements

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class of disease

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carbohydrate metabolic disorder

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gluconeogenesis disorder

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

1 reference

GLUCONEOGENESIS IN INFANCY AND CHILDHOOD III. Deficiency of the Extramitochondrial Form of Hepatic Phosphoenolpyruvate Carboxykinase in a Case of Persistent Neonatal Hypoglycaemia

277.89

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

NCI Thesaurus ID

C99015

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_2880

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Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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)

plwiki Deficyt karboksykinazy fosfoenolopirogronianu

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Wikiversity(0 entries)

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