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Preferred Name

PHENYLKETONURIA
Synonyms

PHENYLALANINE HYDROXYLASE DEFICIENCY
ID

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

PHENYLALANINE HYDROXYLASE DEFICIENCY

PHENYLKETONURIA, MATERNAL

HYPERPHENYLALANINEMIA, NON-PKU MILD

FOLLING DISEASE

OLIGOPHRENIA PHENYLPYRUVICA

PAH DEFICIENCY

PKU

HPA, NON-PKU MILD
cui

C2678416

C0085547

C0751434
Gene Locus

12q24.1
Gene Symbol

PAH

PKU1
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.
notation

261600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PHENYLKETONURIA
Scope Statement

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

Mousy odor [MISCELLANEOUS]

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

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.obolibrary.org/obo/MONDO_0009861 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0009861 Experimental Factor Ontology / 实验性因素本体 LOOM
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/MESH/D010661 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81315 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C50.0 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
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.obolibrary.org/obo/DOID_9281 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_9281 Human Disease Ontology / 人类疾病本体 LOOM
http://www.orpha.net/ORDO/Orphanet_716 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D017042 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LA21169-0 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM