About: D-glycerate dehydrogenase deficiency

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D-glycerate dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where the young patient is unable to produce an enzyme necessary to convert 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the only way for humans to synthesize serine.This disorder is called Neu–Laxova syndrome in neonates.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	D-glycerate dehydrogenase deficiency (en)
rdfs:comment	D-glycerate dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where the young patient is unable to produce an enzyme necessary to convert 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the only way for humans to synthesize serine.This disorder is called Neu–Laxova syndrome in neonates. (en)
foaf:name	D-glycerate dehydrogenase deficiency (en)
name	D-glycerate dehydrogenase deficiency (en)
foaf:depiction
dcterms:subject	Syndromes with cleft lip and/or palate Syndromes with craniofacial abnormalities Autosomal recessive disorders Syndromes with dysmelia Congenital disorders Rare syndromes Syndromes affecting the nervous system
Wikipage page ID	62469209 (xsd:integer)
Wikipage revision ID	1121069313 (xsd:integer)
Link from a Wikipage to another Wikipage	Homozygous Syndromes with cleft lip and/or palate Syndromes with craniofacial abnormalities Phosphoglycerate dehydrogenase Epilepsy Glycine Autosomal recessive disorders Committed step Compound heterozygosity Syndromes with dysmelia Cysteine Psychomotor retardation Congenital disorders Rare syndromes Syndromes affecting the nervous system Dieting Autosome Metabolism Microcephaly Neu–Laxova syndrome Serine 3-phosphoglycerate 3-phosphohydroxypyruvate
sameAs	D-glycerate dehydrogenase deficiency D-glycerate dehydrogenase deficiency
UMLS	268165.0 (nicaraguanCórdoba)
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Short_description
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
ICD	(en) Q74.8 (en)
OMIM	260000 (xsd:integer)
onset	Adolescent, Infancy, Childhood (en)
symptoms	Congenital microcephaly, psychomotor retardation and seizures in infants, moderate developmental delay and behavioral disorders juveniles. (en)
treatment	Dieting
caption	Condition is acquired via an autosomal recessive pattern (en)
causes	Genetic (en)
field	Metabolism
frequency	<1 / 1 000 000 (en)
synonyms	3 (xsd:integer)
has abstract	D-glycerate dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where the young patient is unable to produce an enzyme necessary to convert 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the only way for humans to synthesize serine.This disorder is called Neu–Laxova syndrome in neonates. (en)
GARD	2836 (xsd:integer)
medication	Serine (en)
prevention	N/A (en)
prognosis	Shortened life expectancy (en)
medication	Serine
symptoms	Epilepsy Psychomotor retardation Microcephaly
treatment	Dieting
prov:wasDerivedFrom	wikipedia-en:D-glycerate_dehydrogenase_deficiency?oldid=1121069313&ns=0
page length (characters) of wiki page	6754 (xsd:nonNegativeInteger)
ICD10	Q74.8
OMIM id	260000 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:D-glycerate_dehydrogenase_deficiency
is Link from a Wikipage to another Wikipage of	List of diseases (D) Phosphoglycerate dehydrogenase PHGDHD PHGDH deficiency 3-phosphoglycerate dehydrogenase deficiency
is Wikipage redirect of	PHGDHD PHGDH deficiency 3-phosphoglycerate dehydrogenase deficiency
is foaf:primaryTopic of	wikipedia-en:D-glycerate_dehydrogenase_deficiency

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