Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

PHENYLALANINE HYDROXYLASE
Synonyms

PAH

HYPERPHENYLALANINEMIA, NON-PKU MILD

PHENYLKETONURIA

HYPERPHENYLALANINEMIA, NON-PKU
ID

http://purl.bioontology.org/ontology/OMIM/612349
altLabel

PAH

HYPERPHENYLALANINEMIA, NON-PKU MILD

PHENYLKETONURIA

HYPERPHENYLALANINEMIA, NON-PKU
cui

C0751434

C1418251

C2678416

C2676533
Gene Locus

12q24.1
Gene Symbol

PAH

PKU1
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/612349.0057

http://purl.bioontology.org/ontology/OMIM/612349.0051

http://purl.bioontology.org/ontology/OMIM/612349.0055

http://purl.bioontology.org/ontology/OMIM/612349.0053

http://purl.bioontology.org/ontology/OMIM/612349.0054

http://purl.bioontology.org/ontology/OMIM/612349.0050

http://purl.bioontology.org/ontology/OMIM/612349.0052

http://purl.bioontology.org/ontology/OMIM/612349.0056

http://purl.bioontology.org/ontology/OMIM/612349.0059

http://purl.bioontology.org/ontology/OMIM/612349.0058

http://purl.bioontology.org/ontology/OMIM/612349.0061

http://purl.bioontology.org/ontology/OMIM/612349.0067

http://purl.bioontology.org/ontology/OMIM/612349.0063

http://purl.bioontology.org/ontology/OMIM/612349.0066

http://purl.bioontology.org/ontology/OMIM/612349.0062

http://purl.bioontology.org/ontology/OMIM/612349.0064

http://purl.bioontology.org/ontology/OMIM/612349.0060

http://purl.bioontology.org/ontology/OMIM/612349.0020

http://purl.bioontology.org/ontology/OMIM/612349.0026

http://purl.bioontology.org/ontology/OMIM/612349.0021

http://purl.bioontology.org/ontology/OMIM/612349.0027

http://purl.bioontology.org/ontology/OMIM/612349.0023

http://purl.bioontology.org/ontology/OMIM/612349.0025

http://purl.bioontology.org/ontology/OMIM/612349.0028

http://purl.bioontology.org/ontology/OMIM/612349.0029

http://purl.bioontology.org/ontology/OMIM/612349.0015

http://purl.bioontology.org/ontology/OMIM/612349.0011

http://purl.bioontology.org/ontology/OMIM/612349.0013

http://purl.bioontology.org/ontology/OMIM/612349.0010

http://purl.bioontology.org/ontology/OMIM/612349.0018

http://purl.bioontology.org/ontology/OMIM/612349.0012

http://purl.bioontology.org/ontology/OMIM/612349.0017

http://purl.bioontology.org/ontology/OMIM/612349.0014

http://purl.bioontology.org/ontology/OMIM/612349.0016

http://purl.bioontology.org/ontology/OMIM/612349.0019

http://purl.bioontology.org/ontology/OMIM/612349.0041

http://purl.bioontology.org/ontology/OMIM/612349.0042

http://purl.bioontology.org/ontology/OMIM/612349.0048

http://purl.bioontology.org/ontology/OMIM/612349.0040

http://purl.bioontology.org/ontology/OMIM/612349.0043

http://purl.bioontology.org/ontology/OMIM/612349.0045

http://purl.bioontology.org/ontology/OMIM/612349.0044

http://purl.bioontology.org/ontology/OMIM/612349.0049

http://purl.bioontology.org/ontology/OMIM/612349.0047

http://purl.bioontology.org/ontology/OMIM/612349.0046

http://purl.bioontology.org/ontology/OMIM/612349.0002

http://purl.bioontology.org/ontology/OMIM/612349.0007

http://purl.bioontology.org/ontology/OMIM/612349.0003

http://purl.bioontology.org/ontology/OMIM/612349.0004

http://purl.bioontology.org/ontology/OMIM/612349.0009

http://purl.bioontology.org/ontology/OMIM/612349.0005

http://purl.bioontology.org/ontology/OMIM/612349.0006

http://purl.bioontology.org/ontology/OMIM/612349.0001

http://purl.bioontology.org/ontology/OMIM/612349.0008

http://purl.bioontology.org/ontology/OMIM/612349.0031

http://purl.bioontology.org/ontology/OMIM/612349.0030

http://purl.bioontology.org/ontology/OMIM/612349.0038

http://purl.bioontology.org/ontology/OMIM/612349.0033

http://purl.bioontology.org/ontology/OMIM/612349.0032

http://purl.bioontology.org/ontology/OMIM/612349.0036

http://purl.bioontology.org/ontology/OMIM/612349.0035

http://purl.bioontology.org/ontology/OMIM/612349.0037

http://purl.bioontology.org/ontology/OMIM/612349.0039

http://purl.bioontology.org/ontology/OMIM/612349.0034
MIMTYPEMEANING

Gene with known sequence
notation

612349
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

PHENYLALANINE HYDROXYLASE
tui

T047

T033

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP63593-5 LOINC CUI
http://purl.bioontology.org/ontology/MESH/C567494 MESH 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://purl.jp/bio/4/id/200906057312044313 IOBC LOOM
http://purl.bioontology.org/ontology/LNC/LP36857-8 LOINC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0031456 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00020218 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D010651 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16605 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D010651 MESH LOOM
http://purl.bioontology.org/ontology/RCD/X80Gy RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9611 OCHV LOOM
http://purl.obolibrary.org/obo/MESH_D010651 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0011639 OMIT LOOM
http://id.nlm.nih.gov/mesh/D010651 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.682.690.708.601 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_124068 ORDO LOOM