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Preferred Name

LESCH-NYHAN SYNDROME
Synonyms

HPRT DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/300322
altLabel

HPRT DEFICIENCY

LNS

HPRT1 DEFICIENCY

HPRT DEFICIENCY, NEUROLOGIC VARIANT

HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY

LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT

HPRT DEFICIENCY, COMPLETE
cui

C0023374

C1845892
Gene Locus

Xq26.2
Gene Symbol

HPRT1

HPRT
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU004766

http://purl.bioontology.org/ontology/OMIM/MTHU008399

http://purl.bioontology.org/ontology/OMIM/MTHU002752

http://purl.bioontology.org/ontology/OMIM/MTHU008397

http://purl.bioontology.org/ontology/OMIM/MTHU001903

http://purl.bioontology.org/ontology/OMIM/MTHU008390

http://purl.bioontology.org/ontology/OMIM/MTHU008395

http://purl.bioontology.org/ontology/OMIM/MTHU008394

http://purl.bioontology.org/ontology/OMIM/MTHU042222

http://purl.bioontology.org/ontology/OMIM/MTHU007103

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU008398

http://purl.bioontology.org/ontology/OMIM/MTHU008396

http://purl.bioontology.org/ontology/OMIM/MTHU008393

http://purl.bioontology.org/ontology/OMIM/MTHU037100

http://purl.bioontology.org/ontology/OMIM/MTHU004435

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

Phenotype description, molecular basis known.
notation

300322
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

LESCH-NYHAN SYNDROME
Scope Statement

Classic Lesch-Nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (HPRT) activity [MISCELLANEOUS]

Variant Lesch-Nyhan, 1.5-8% HPRT activity with neurologic abnormalities, but no self-injurious behavior [MISCELLANEOUS]

Caused by mutation in the hypoxanthine phosphoribosyltransferase gene (HPRT1, 308000.0004) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/E79.1 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/ICD10CM/E79.1 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 LOOM
http://purl.bioontology.org/ontology/ICD10/E79.1 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10/E79.1 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61255 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_510 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/DOID_1919 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_1919 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C564535 Medical Subject Headings / 医学主题词表 CUI
http://purl.bmicc.cn/ontology/ICD10CN/E79.1 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bmicc.cn/ontology/ICD11CN/5C55.01 《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/MESH/D007926 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D007926 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0010298 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010298 Experimental Factor Ontology / 实验性因素本体 LOOM