About: Phosphoenolpyruvate Carboxykinase Deficiency

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Phosphoenolpyruvate Carboxykinase Deficiency Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Phosphoenolpyruvate Carboxykinase Deficiency
rdfs:subClassOf	Rare Non-Neoplastic Disorder Carbohydrate Metabolism Disorder
Has_NICHD_Parent	Enzyme Deficiency Autosomal Recessive Inherited Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Phosphoenolpyruvate Carboxykinase Deficiency
UMLS_CUI	C0268194
Contributing_Source	NICHD
FULL_SYN	Phosphoenolpyruvate Carboxykinase (GTP) DeficiencyPTNICHD Phosphoenolpyruvate Carboxykinase DeficiencyPTNCI
DEFINITION	A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly.NCI
code	C99015

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 58 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software