Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023

Preferred Name	genetic disease
Definitions	A disease that has_material_basis_in genetic variations in the human genome.
ID	http://purl.obolibrary.org/obo/DOID_630
database_cross_reference	UMLS_CUI:C0019247 NCI:C3101 SNOMEDCT_US_2022_09_01:32895009 MESH:D030342
definition	A disease that has_material_basis_in genetic variations in the human genome.
has_obo_namespace	disease_ontology
id	DOID:630
in_subset	http://purl.obolibrary.org/obo/doid#NCIthesaurus http://purl.obolibrary.org/obo/doid#DO_CFDE_slim http://purl.obolibrary.org/obo/doid#DO_RAD_slim
label	genetic disease
notation	DOID:630
prefLabel	genetic disease
subClassOf	http://purl.obolibrary.org/obo/DOID_4

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_630	Cardiovascular Disease Ontology / 心血管疾病本体	SAME_URI
http://purl.obolibrary.org/obo/DOID_630	BioAssay Ontology / 生物活性分析本体	LOOM
http://purl.obolibrary.org/obo/DOID_630	BioAssay Ontology / 生物活性分析本体	SAME_URI
http://purl.obolibrary.org/obo/DOID_630	Ontology of Drug Adverse Events / 药物不良反应本体	LOOM
http://purl.obolibrary.org/obo/DOID_630	Ontology of Drug Adverse Events / 药物不良反应本体	SAME_URI
http://purl.obolibrary.org/obo/DOID_630	Cell Line Ontology Subset for Chinese National Infrastructure of Cell Line Resource (NICR) / 国家实验细胞资源共享服务平台(NICR)细胞系本体子集	SAME_URI
http://purl.obolibrary.org/obo/DOID_630	细胞系本体（中文翻译） / Cell Line Ontology (Chinese Translation)	SAME_URI
http://purl.obolibrary.org/obo/DOID_630	Coronavirus Infectious Disease Ontology / 冠状病毒感染性疾病本体	LOOM
http://purl.obolibrary.org/obo/DOID_630	Coronavirus Infectious Disease Ontology / 冠状病毒感染性疾病本体	SAME_URI