Mondo Disease Ontology

Last uploaded: November 25, 2024

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Preferred Name	phenylketonuria
Synonyms	HPA, non-PKU mild imbecilitus phenylpyruvica oligophrenia phenylpyruvica phenylpyruvic oligophrenia phenylketonuria, maternal oligophrenia Phenylpyruvica PAH deficiency phenylalanine hydroxylase deficiency hyperphenylalaninemia, non-PKU mild phenylalaninemia phenylketonuria PKU
Definitions	Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
ID	http://purl.obolibrary.org/obo/MONDO_0009861
curated content resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0009861
database_cross_reference	UMLS:C0031485 MESH:D010661 NANDO:2201075 SCTID:7573000 GARD:7383 MedDRA:10034872 Orphanet:716 NCIT:C81315 NANDO:1200784 icd11.foundation:444122923 MEDGEN:19244 NORD:1574 ICD9:270.1 NANDO:1200785 DOID:9281 NANDO:2200467 OMIM:261600
definition	Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
has_exact_synonym	PAH deficiency phenylalanine hydroxylase deficiency hyperphenylalaninemia, non-PKU mild phenylalaninemia phenylketonuria PKU
has_related_synonym	HPA, non-PKU mild imbecilitus phenylpyruvica oligophrenia phenylpyruvica phenylpyruvic oligophrenia phenylketonuria, maternal oligophrenia Phenylpyruvica
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/4521
id	MONDO:0009861
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label	phenylketonuria
notation	MONDO:0009861
prefLabel	phenylketonuria
skos_closeMatch	http://identifiers.org/meddra/10034872
skos_exactMatch	https://omim.org/entry/261600 http://identifiers.org/medgen/19244 http://identifiers.org/snomedct/7573000 http://purl.obolibrary.org/obo/NCIT_C81315 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/444122923 http://identifiers.org/mesh/D010661 http://linkedlifedata.com/resource/umls/id/C0031485 http://purl.obolibrary.org/obo/Orphanet_716 http://purl.obolibrary.org/obo/DOID_9281
treeView	http://purl.obolibrary.org/obo/MONDO_0017306 http://purl.obolibrary.org/obo/MONDO_0006025
subClassOf	http://purl.obolibrary.org/obo/MONDO_0017306 http://purl.obolibrary.org/obo/MONDO_0006025

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009861	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009861	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009861	DOVES	SAME_URI
http://purl.obolibrary.org/obo/DOID_9281	DOID	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://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	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	DOID	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