BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023

Preferred Name	inherited metabolic disorder
Synonyms	Inborn Errors of Metabolism
Definitions	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
ID	http://purl.obolibrary.org/obo/DOID_655
database_cross_reference	NCI:C34816 UMLS_CUI:C0025521 MESH:D008661 SNOMEDCT_US_2020_03_01:86095007
has exact synonym	Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder
id	DOID:655
in_subset	http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_MGI_slim http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus
label	inherited metabolic disorder
notation	DOID:655
prefLabel	inherited metabolic disorder
textual definition	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
引自	http://purl.obolibrary.org/obo/doid.owl
有_obo_命名空间	disease_ontology
subClassOf	http://purl.obolibrary.org/obo/DOID_0014667

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_655	Ontology of Drug Adverse Events / 药物不良反应本体	LOOM
http://purl.obolibrary.org/obo/DOID_655	Ontology of Drug Adverse Events / 药物不良反应本体	SAME_URI
http://purl.obolibrary.org/obo/DOID_655	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_655	细胞系本体（中文翻译） / Cell Line Ontology (Chinese Translation)	SAME_URI
http://purl.obolibrary.org/obo/DOID_655	Human Disease Ontology / 人类疾病本体	LOOM
http://purl.obolibrary.org/obo/DOID_655	Human Disease Ontology / 人类疾病本体	SAME_URI