About: Leigh Disease

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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	Leigh Disease
rdfs:subClassOf	Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Central Nervous System Diseases
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Leigh Disease
UMLS_CUI	C0023264
Contributing_Source	NICHD
FULL_SYN	Leigh DiseasePTNCI Leigh's DiseasePTNICHD
DEFINITION	An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures.NCI
code	C84814
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0012315
is sameAs of	Leigh Disease

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