Preferred Name

PURINE NUCLEOSIDE PHOSPHORYLASE

Synonyms

PNP

ID

http://purl.bioontology.org/ontology/OMIM/164050

altLabel

PNP

NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM

NP

PURINE-NUCLEOSIDE:ORTHOPHOSPHATE RIBOSYLTRANSFERASE

NUCLEOSIDE PHOSPHORYLASE

cui

C0268125

C4016278

C1417772

Gene Locus

14q13.1

Gene Symbol

PNP

NP

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/164050.0001

http://purl.bioontology.org/ontology/OMIM/164050.0005

http://purl.bioontology.org/ontology/OMIM/164050.0007

http://purl.bioontology.org/ontology/OMIM/164050.0006

http://purl.bioontology.org/ontology/OMIM/164050.0008

http://purl.bioontology.org/ontology/OMIM/164050.0010

http://purl.bioontology.org/ontology/OMIM/164050.0002

http://purl.bioontology.org/ontology/OMIM/164050.0003

http://purl.bioontology.org/ontology/OMIM/164050.0004

http://purl.bioontology.org/ontology/OMIM/164050.0009

MIMTYPEMEANING

Gene with known sequence

notation

164050

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

PURINE NUCLEOSIDE PHOSPHORYLASE

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/D81.5 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43241 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/ICD10/D81.5 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://www.orpha.net/ORDO/Orphanet_123864 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D011683 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/PR_000011344 Protein Ontology / 蛋白质本体 LOOM
http://purl.obolibrary.org/obo/PR_000011344 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU013824 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/D81.5 《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/MESH/C562587 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LP15841-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM