About: BH4-deficient hyperphenylalaninemia A

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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	autosomal recessive disease amino acid metabolic disorder nodeID://b50942267
label	BH4-deficient hyperphenylalaninemia A
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090106
database_cross_reference	GARD:5682 MESH:C535325 NCI:C138171 OMIM:261640 ORDO:13 SNOMEDCT_US_2021_09_01:237914002 UMLS_CUI:C0878676
has_exact_synonym	hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (en) 6-pyruvoyl-tetrahydropterin synthase deficiency (en) HPABH4A (en) PTS deficiency (en) tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942268

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