Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

severe combined immunodeficiency

Synonyms

SCID

Definitions

A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.

ID

http://purl.obolibrary.org/obo/DOID_627

database_cross_reference

UMLS_CUI:C0085110

NCI:C3472

MESH:D016511

GARD:7628

SNOMEDCT_US_2022_09_01:190994004

definition

A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.

has exact synonym

SCID

combined T and B cell inborn immunodeficiency

has_obo_namespace

disease_ontology

id

DOID:627

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

severe combined immunodeficiency

notation

DOID:627

prefLabel

severe combined immunodeficiency

subClassOf

http://purl.obolibrary.org/obo/DOID_0111962

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http://purl.obolibrary.org/obo/HP_0004430 Coronavirus Infectious Disease Ontology / 冠状病毒感染性疾病本体 LOOM
http://purl.obolibrary.org/obo/HP_0004430 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.bioontology.org/ontology/LNC/LA12566-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3472 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/MONDO_0015974 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0015974 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/LNC/LP111254-1 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/MESH/D016511 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036640 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.obolibrary.org/obo/DOID_627 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_627 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://www.orpha.net/ORDO/Orphanet_183660 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU009056 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM