About: Glycine Encephalopathy

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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	Glycine Encephalopathy
rdfs:subClassOf	Encephalopathy Rare Non-Neoplastic Disorder Amino Acid Metabolism, Inborn Errors
Has_NICHD_Parent	Encephalopathy Amino Acid Metabolism, Inborn Errors
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Glycine Encephalopathy
UMLS_CUI	C0751748
Contributing_Source	NICHD
FULL_SYN	Glycine EncephalopathyPTNCI Nonketotic HyperglycinemiaSYNCI Non-Ketotic HyperglycinemiaPTNICHD
DEFINITION	An autosomal recessive inherited metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.NCI
code	C84937
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0328332
is sameAs of	Hyperglycinemia, Nonketotic

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