About: amino acid metabolic disorder

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	inherited metabolic disorder
label	amino acid metabolic disorder
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:9252
database_cross_reference	GARD:5793 ICD10CM:E72.9 ICD9CM:270 MESH:D000592 NCI:C97090 SNOMEDCT_US_2021_09_01:42930003 UMLS_CUI:C0002514
has_exact_synonym	inborn errors of amino acid metabolism (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
is subClassOf of	systemic primary carnitine deficiency disease beta-ketothiolase deficiency argininosuccinic aciduria multiple carboxylase deficiency homocystinuria cystinuria glycine encephalopathy alkaptonuria hyperlysinemia hyperhomocysteinemia phenylketonuria hypermethioninemia 2-hydroxyglutaric aciduria 3-Methylcrotonyl-CoA carboxylase deficiency ornithine translocase deficiency serine deficiency adenylosuccinase lyase deficiency cerebral creatine deficiency syndrome organic acidemia gamma-amino butyric acid metabolism disorder lysinuric protein intolerance dicarboxylic aminoaciduria Brunner Syndrome hyperprolinemia glutathione synthetase deficiency BH4-deficient hyperphenylalaninemia A branched-chain keto acid dehydrogenase kinase deficiency cystathioninuria gamma-glutamyl transpeptidase deficiency pentosuria fumarase deficiency hawkinsinuria 2-aminoadipic 2-oxoadipic aciduria prolidase deficiency glutamate-cysteine ligase deficiency familial hypertryptophanemia BH4-deficient hyperphenylalaninemia B homocystinuria-megaloblastic anemia cblE type homocystinuria-megaloblastic anemia cblG type hydroxykynureninuria leucine-sensitive hypoglycemia of infancy sarcosinemia Hartnup disease histidine metabolism disease urea cycle disorder tyrosinemia
is first of	nodeID://b50937439 nodeID://b50937470
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50956408

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