Human Disease Ontology

Last uploaded: November 1, 2024
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Preferred Name

phenylketonuria
Synonyms

PKU

maternal phenylketonuria

Folling's disease

phenylalaninemia
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

SNOMEDCT_US_2023_03_01:154735006

UMLS_CUI:C0031485

UMLS_CUI:C0085547

ICD9CM:270.1

MESH:D017042

SNOMEDCT_US_2023_03_01:297225000

GARD:7383

MIM:261600

NCI:C81315

ORDO:716
definition

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

PKU

maternal phenylketonuria

Folling's disease

phenylalaninemia
has_alternative_id

DOID:14455
has_obo_namespace

disease_ontology
id

DOID:9281
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

phenylketonuria
notation

DOID:9281
prefLabel

phenylketonuria
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 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_9281 EPIO SAME_URI
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
http://purl.obolibrary.org/obo/DOID_9281 FNS-H SAME_URI
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://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
http://localhost/plosthes.2017-1#1811 PLOSTHES 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009861 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009861 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009861 EFO 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 DDSS 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
http://www.gamuts.net/entity#maternal_phenylketonuria GAMUTS REST
http://www.gamuts.net/entity#phenylketonuria GAMUTS REST