Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

PHENYLKETONURIA
Synonyms

FOLLING DISEASE

PHENYLALANINE HYDROXYLASE DEFICIENCY

HYPERPHENYLALANINEMIA, NON-PKU MILD

PKU

OLIGOPHRENIA PHENYLPYRUVICA

PHENYLKETONURIA, MATERNAL

PAH DEFICIENCY

HPA, NON-PKU MILD
ID

http://purl.bioontology.org/ontology/OMIM/261600
altLabel

FOLLING DISEASE

PHENYLALANINE HYDROXYLASE DEFICIENCY

HYPERPHENYLALANINEMIA, NON-PKU MILD

PKU

OLIGOPHRENIA PHENYLPYRUVICA

PHENYLKETONURIA, MATERNAL

PAH DEFICIENCY

HPA, NON-PKU MILD
cui

C0085547

C0751434

C2678416
Gene Locus

12q24.1
Gene Symbol

PAH

PKU1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU010128

http://purl.bioontology.org/ontology/OMIM/MTHU010123

http://purl.bioontology.org/ontology/OMIM/MTHU032488

http://purl.bioontology.org/ontology/OMIM/MTHU003535

http://purl.bioontology.org/ontology/OMIM/MTHU000246

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU001050

http://purl.bioontology.org/ontology/OMIM/MTHU032491

http://purl.bioontology.org/ontology/OMIM/MTHU032485

http://purl.bioontology.org/ontology/OMIM/MTHU010134

http://purl.bioontology.org/ontology/OMIM/MTHU010135

http://purl.bioontology.org/ontology/OMIM/MTHU010141

http://purl.bioontology.org/ontology/OMIM/MTHU010124

http://purl.bioontology.org/ontology/OMIM/MTHU010143

http://purl.bioontology.org/ontology/OMIM/MTHU010126

http://purl.bioontology.org/ontology/OMIM/MTHU032486

http://purl.bioontology.org/ontology/OMIM/MTHU010125

http://purl.bioontology.org/ontology/OMIM/MTHU010142

http://purl.bioontology.org/ontology/OMIM/MTHU010132

http://purl.bioontology.org/ontology/OMIM/MTHU032490

http://purl.bioontology.org/ontology/OMIM/MTHU032483

http://purl.bioontology.org/ontology/OMIM/MTHU032492

http://purl.bioontology.org/ontology/OMIM/MTHU010130

http://purl.bioontology.org/ontology/OMIM/MTHU010127

http://purl.bioontology.org/ontology/OMIM/MTHU032489

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU032484

http://purl.bioontology.org/ontology/OMIM/MTHU010136

http://purl.bioontology.org/ontology/OMIM/MTHU010129

http://purl.bioontology.org/ontology/OMIM/MTHU010137

http://purl.bioontology.org/ontology/OMIM/MTHU010133

http://purl.bioontology.org/ontology/OMIM/MTHU032487

http://purl.bioontology.org/ontology/OMIM/MTHU004077

http://purl.bioontology.org/ontology/OMIM/MTHU010138

http://purl.bioontology.org/ontology/OMIM/MTHU000940
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

261600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PHENYLKETONURIA
Scope Statement

Mousy odor [MISCELLANEOUS]

Caused by mutation in the phenylalanine hydroxylase gene (PAH, 612349.0001) [MOLECULAR BASIS]

Occurs in about 1 in 10,000 births [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/297225000 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C567494 MESH CUI
http://purl.bioontology.org/ontology/MESH/D017042 MESH CUI
http://purl.bioontology.org/ontology/RCD/Xa6aL RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D017042 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/297225000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003518 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10034875 MEDDRA 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/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/SNMI/D6-A1120 SNMI 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://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://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 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