BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023
Preferred Name

Prader-Willi syndrome

Synonyms

Prader Willi syndrome

Definitions

A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_11983

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

ICD10CM:Q87.11

NCI:C75463

OMIM:176270

UMLS_CUI:C0032897

MESH:D011218

ORDO:739

GARD:5575

ICD9CM:759.81

SNOMEDCT_US_2020_03_01:205794007

has exact synonym

Prader Willi syndrome

id

DOID:11983

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

Prader-Willi syndrome

notation

DOID:11983

prefLabel

Prader-Willi syndrome

textual definition

A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.

引自

http://purl.obolibrary.org/obo/doid.owl

有_obo_命名空间

disease_ontology

subClassOf

http://purl.obolibrary.org/obo/DOID_225

http://purl.obolibrary.org/obo/DOID_0080014

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75463 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008300 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_11983 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_11983 Human Disease Ontology / 人类疾病本体 SAME_URI
http://www.orpha.net/ORDO/Orphanet_739 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.11 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/OMIM/176270 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://purl.bioontology.org/ontology/MESH/D011218 Medical Subject Headings / 医学主题词表 LOOM