KB_Bio_101

Last uploaded: January 21, 2014
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Preferred Name

Phenylketonuria
Synonyms
ID

http://www.projecthalo.com/aura#Phenylketonuria
user-description

an autosomal recessive metabolic genetic disorder characterized by a deficiency in an enzyme needed to metabolize the amino acid phenylalanine
prefixIRI

Phenylketonuria
prefLabel

Phenylketonuria
disjointWith

http://www.projecthalo.com/aura#Sex-Linked-Human-Genetic-Disorder

http://www.projecthalo.com/aura#Tay-Sachs-disease

http://www.projecthalo.com/aura#Sickle-Cell-Anemia

http://www.projecthalo.com/aura#Turner-Syndrome

http://www.projecthalo.com/aura#Prader-Willi-Syndrome

http://www.projecthalo.com/aura#Polydactyly

http://www.projecthalo.com/aura#Triple-X
subClassOf

http://www.projecthalo.com/aura#Inborn-Error-Of-Metabolism
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0009861 EFO LOOM
http://purl.obolibrary.org/obo/DOID_9281 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0009861 MONDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15093 DERMLEX LOOM
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://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://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
http://localhost/plosthes.2017-1#1811 PLOSTHES LOOM
http://www.gamuts.net/entity#phenylketonuria GAMUTS LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9281 NATPRO LOOM
http://purl.bioontology.org/ontology/RCTV2/C301.00 RCTV2 LOOM
http://purl.obolibrary.org/obo/MONDO_0009861 DOVES LOOM
http://purl.bioontology.org/ontology/CSP/1849-1234 CRISP LOOM
http://purl.obolibrary.org/obo/DOID_9281 CLO LOOM
http://purl.obolibrary.org/obo/DOID_9281 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9281 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9281 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_9281 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9281 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9281 FNS-H LOOM
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