About: Pyruvate Dehydrogenase Deficiency

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

About: Pyruvate Dehydrogenase Deficiency Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Pyruvate Dehydrogenase Deficiency
rdfs:subClassOf	Metabolism, Inborn Errors Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Enzyme Deficiency
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Pyruvate Dehydrogenase Deficiency
UMLS_CUI	C2936911
Contributing_Source	NICHD
FULL_SYN	Pyruvate Dehydrogenase DeficiencyPTNCI Pyruvate Dehydrogenase DeficiencyPTNICHD PDHABNCI
DEFINITION	A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms include developmental delays, seizures and hypotonia.NCI
code	C103968

Faceted Search & Find service v1.16.121 as of Mar 31 2025

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Mar 31 2025, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 14 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software