BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023
Preferred Name

urea cycle disorder

Synonyms

disorder of urea cycle metabolism

Definitions

An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.

ID

http://purl.obolibrary.org/obo/DOID_9267

database_cross_reference

GARD:7837

UMLS_CUI:C0154246

SNOMEDCT_US_2020_03_01:36444000

ICD9CM:270.6

MESH:D056806

NCI:C84785

ICD10CM:E72.2

has exact synonym

disorder of urea cycle metabolism

urea cycle defect

disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia

id

DOID:9267

in_subset

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

label

urea cycle disorder

notation

DOID:9267

prefLabel

urea cycle disorder

textual definition

An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.

引自

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

有_obo_命名空间

disease_ontology

subClassOf

http://purl.obolibrary.org/obo/DOID_9252

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http://purl.obolibrary.org/obo/MONDO_0004739 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0004739 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_9267 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_9267 Human Disease Ontology / 人类疾病本体 SAME_URI