EpilepsyOntology

Last uploaded: November 8, 2021
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Preferred Name

phenylketonuria
Synonyms

F��lling's disease

phenylalaninemia

maternal phenylketonuria

PKU
Definitions

An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_9281
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

MESH:D010661

MTHICD9_2006:270.1

UMLS_CUI:C0031485

OMIM:261600

CSP2005:1849-1177

UMLS_CUI:C0085547

ICD9CM:270.1

MESH:D017042

GARD:7383

NCI:C81315

ORDO:716
fromArticle

true
fromESSO

true
has exact synonym

F��lling's disease

phenylalaninemia

maternal phenylketonuria

PKU
has_alternative_id

DOID:14455
has_obo_namespace

disease_ontology
id

DOID:9281
imported from

http://purl.obolibrary.org/obo/doid.owl
in subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus
label

phenylketonuria
notation

DOID:9281
prefLabel

phenylketonuria
see also

https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/inborn-errors/phenylketonuria
文本定义

An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
subClassOf

http://purl.obolibrary.org/obo/DOID_9252
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9281 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_9281 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_9281 DOID SAME_URI
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http://purl.obolibrary.org/obo/DOID_9281 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_9281 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_9281 NIFSTD SAME_URI
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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Phenylketonuria CSEO LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Phenylketonuria APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Phenylketonuria APAONTO LOOM
urn:agi-folder:phenylketonuria BPT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10034872 MEDDRA LOOM
http://nanbyodata.jp/ontology/NANDO_2200467 NANDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190687004 SNOMEDCT LOOM
http://purl.jp/bio/4/id/200906057532646136 IOBC LOOM
http://purl.bioontology.org/ontology/ICPC2P/T99023 ICPC2P LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Phenylketonuria PEDTERM LOOM
http://nanbyodata.jp/ontology/NANDO_1200784 NANDO LOOM
rgo:27569 GAMUTS LOOM
http://www.projecthalo.com/aura#Phenylketonuria AURA LOOM
http://purl.obolibrary.org/obo/NCIT_C81315 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_716 ORDO LOOM
http://purl.bioontology.org/ontology/CST/PHENYLKETONURIA COSTART LOOM
http://purl.obolibrary.org/obo/DERMO_0000535 DERMO LOOM
http://purl.bioontology.org/ontology/LNC/LA21169-0 LOINC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_611 HRDO LOOM
http://purl.bioontology.org/ontology/OMIM/261600 OMIM LOOM
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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81315 NCIT LOOM
http://purl.bioontology.org/ontology/RCD/C301. RCD LOOM
http://purl.bioontology.org/ontology/WHO/1119 WHO-ART LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Phenylketonuria ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Phenylketonuria MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Phenylketonuria EPISEM LOOM