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Preferred Name

Classical phenylketonuria
Synonyms

Imbecilitus phenylpyruvica

Oligophrenia phenylpyruvica

PKU

Phenylalanine hydroxylase deficiency

Folling's syndrome

Phenylketonuria, NOS

Hyperphenylalaninemia, type I

PAH deficiency
ID

http://purl.bioontology.org/ontology/SNMI/D6-A1120
altLabel

Imbecilitus phenylpyruvica

Oligophrenia phenylpyruvica

PKU

Phenylalanine hydroxylase deficiency

Folling's syndrome

Phenylketonuria, NOS

Hyperphenylalaninemia, type I

PAH deficiency
Associated with

http://purl.bioontology.org/ontology/SNMI/M-27000

http://purl.bioontology.org/ontology/SNMI/F-67408
cui

C0031485

C0751434
notation

D6-A1120
prefLabel

Classical phenylketonuria
SIC

270.1
SMX

(M-27000) (F-67408)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/SNMI/D6-A1000
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http://purl.bioontology.org/ontology/CSP/1849-1177 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10034872 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10035118 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190687004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10060404 MDRFRE CUI
http://purl.bioontology.org/ontology/ICPC2P/T99023 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRGER/10034873 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10035118 MDRGER CUI
http://purl.bioontology.org/ontology/ICD9CM/270.1 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10034873 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D010661 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10060404 MDRGER CUI
http://purl.bioontology.org/ontology/CST/PHENYLKETONURIA COSTART CUI
http://purl.bioontology.org/ontology/LNC/LA21169-0 LOINC CUI
http://purl.bioontology.org/ontology/MDRFRE/10034872 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0031485 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MEDDRA/10035118 MEDDRA CUI
http://purl.bioontology.org/ontology/WHOFRE/1119 WHOFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10034873 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10034871 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10060404 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1849-1234 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10034871 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10034871 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10034872 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002389 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/C301. RCD CUI
http://purl.bioontology.org/ontology/WHO/1119 WHO-ART CUI
http://purl.bioontology.org/ontology/MESH/D010661 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/190687004 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10034875 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU010141 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/7573000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D010661 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.0 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10/E70.0 ICD10 CUI
http://purl.bioontology.org/ontology/RCD/Xa0lA RCD CUI
http://purl.bioontology.org/ontology/OMIM/261600 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/7573000 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10034875 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LA12520-5 LOINC CUI
http://purl.bioontology.org/ontology/CSP/1849-1234 CRISP CUI
http://purl.bioontology.org/ontology/RCD/X40Rb RCD CUI
http://purl.bioontology.org/ontology/RCD/C301. RCD CUI
http://purl.bioontology.org/ontology/MESH/D010661 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10034875 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/612349 OMIM CUI
http://www.limics.fr/ontologies/ontolurgences#PhenylcetonurieClassique ONTOLURGENCES LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Classical_Phenylketonuria ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Classical_Phenylketonuria MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Classical_Phenylketonuria EPISEM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/7573000 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.0 ICD10CM LOOM
http://purl.bioontology.org/ontology/ICD10/E70.0 ICD10 LOOM
http://purl.bioontology.org/ontology/RCD/Xa0lA RCD LOOM
http://www.orpha.net/ORDO/Orphanet_79254 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_79254 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_79254 EFO LOOM
http://www.owl-ontologies.com/Ontology1172270693.owl#Classical_Phenylketonuria FHHO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11280 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C117117 NCIT LOOM
http://purl.obolibrary.org/obo/NCIT_C117117 BERO LOOM