About: phenylketonuria

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

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	amino acid metabolic disorder
label	phenylketonuria
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:9281
has_alternative_id	DOID:14455
database_cross_reference	GARD:7383 ICD9CM:270.1 MESH:D010661 MESH:D017042 NCI:C81315 OMIM:261600 ORDO:716 SNOMEDCT_US_2021_09_01:154735006 SNOMEDCT_US_2021_09_01:297225000 UMLS_CUI:C0031485 UMLS_CUI:C0085547
has_exact_synonym	Folling's disease (en) PKU (en) maternal phenylketonuria (en) phenylalaninemia (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 a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50956447

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