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(Q18424118)
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English
phosphoenolpyruvate carboxykinase deficiency
No description defined
PEPCK deficiency
Phosphoenolpyruvate Carboxykinase (GTP) Deficiency
In more languages
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No label defined
No description defined
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
carbohydrate metabolic disorder
0 references
gluconeogenesis disorder
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017320
genetic association
PCK1
1 reference
stated in
GLUCONEOGENESIS IN INFANCY AND CHILDHOOD III. Deficiency of the Extramitochondrial Form of Hepatic Phosphoenolpyruvate Carboxykinase in a Case of Persistent Neonatal Hypoglycaemia
ICD-9-CM
277.89
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017320
NCI Thesaurus ID
C99015
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017320
exact match
http://www.orpha.net/ORDO/Orphanet_2880
0 references
Identifiers
MeSH descriptor ID
C536654
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017320
ICD-10-CM
E74.4
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017320
Mondo ID
MONDO_0017320
0 references
Orphanet ID
2880
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017320
UMLS CUI
C0268194
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0017320
Sitelinks
Wikipedia
(1 entry)
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plwiki
Deficyt karboksykinazy fosfoenolopirogronianu
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Wikinews
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Wikiquote
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Wikisource
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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