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Preferred Name

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
Synonyms

NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/613179
altLabel

NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
cui

C0268125
Gene Locus

14q13.1
Gene Symbol

PNP

NP
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU006279

http://purl.bioontology.org/ontology/OMIM/MTHU004967

http://purl.bioontology.org/ontology/OMIM/MTHU016070

http://purl.bioontology.org/ontology/OMIM/MTHU016649

http://purl.bioontology.org/ontology/OMIM/MTHU016641

http://purl.bioontology.org/ontology/OMIM/MTHU016659

http://purl.bioontology.org/ontology/OMIM/MTHU016651

http://purl.bioontology.org/ontology/OMIM/MTHU016657

http://purl.bioontology.org/ontology/OMIM/MTHU016647

http://purl.bioontology.org/ontology/OMIM/MTHU002543

http://purl.bioontology.org/ontology/OMIM/MTHU016645

http://purl.bioontology.org/ontology/OMIM/MTHU016653

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU005462

http://purl.bioontology.org/ontology/OMIM/MTHU006625

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU016655

http://purl.bioontology.org/ontology/OMIM/MTHU002638

http://purl.bioontology.org/ontology/OMIM/MTHU006278

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU006260

http://purl.bioontology.org/ontology/OMIM/MTHU007522

http://purl.bioontology.org/ontology/OMIM/MTHU016648

http://purl.bioontology.org/ontology/OMIM/MTHU016650

http://purl.bioontology.org/ontology/OMIM/MTHU016640

http://purl.bioontology.org/ontology/OMIM/MTHU016646

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU000244

http://purl.bioontology.org/ontology/OMIM/MTHU016644

http://purl.bioontology.org/ontology/OMIM/MTHU016642

http://purl.bioontology.org/ontology/OMIM/MTHU007429

http://purl.bioontology.org/ontology/OMIM/MTHU016656

http://purl.bioontology.org/ontology/OMIM/MTHU016654

http://purl.bioontology.org/ontology/OMIM/MTHU016658

http://purl.bioontology.org/ontology/OMIM/MTHU016652

http://purl.bioontology.org/ontology/OMIM/MTHU038527

http://purl.bioontology.org/ontology/OMIM/MTHU002424

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU006263
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

209000
notation

613179
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
Scope Statement

Caused by mutation in the purine nucleoside phosphorylase gene (PNP, 164050.0001) [MOLECULAR BASIS]
tui

T047
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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://purl.bioontology.org/ontology/ICD10/D81.5 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176817 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3963 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/DOID_5813 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_5813 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0013171 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0013171 Experimental Factor Ontology / 实验性因素本体 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/MESH/C562587 Medical Subject Headings / 医学主题词表 LOOM
http://www.orpha.net/ORDO/Orphanet_760 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM