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Preferred Name

PHENYLALANINE HYDROXYLASE
Synonyms

PHENYLKETONURIA
ID

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

PHENYLKETONURIA

HYPERPHENYLALANINEMIA, NON-PKU MILD

PAH

HYPERPHENYLALANINEMIA, NON-PKU
cui

C2678416

C1418251

C0751434

C2676533
Gene Locus

12q24.1
Gene Symbol

PAH

PKU1
Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene with known sequence
notation

612349
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

PHENYLALANINE HYDROXYLASE
tui

T028

T033

T047
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Delete Mapping To Ontology Source
http://purl.bmicc.cn/ontology/ICD10CN/E70.0 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10/E70.0 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/MESH/C567494 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LA12520-5 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LP36857-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/MESH/D010661 Medical Subject Headings / 医学主题词表 CUI
http://www.orpha.net/ORDO/Orphanet_124068 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/LNC/LP63593-5 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/D010651 Medical Subject Headings / 医学主题词表 LOOM