BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023
Preferred Name

hyperargininemia

Synonyms

argininemia

Definitions

An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_9278

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

MESH:D020162

SNOMEDCT_US_2020_03_01:23501004

OMIM:207800

UMLS_CUI:C0268548

NCI:C84568

ICD10CM:E72.21

has exact synonym

argininemia

Arginase deficiency

deficiency of canavanase

id

DOID:9278

in_subset

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

label

hyperargininemia

notation

DOID:9278

prefLabel

hyperargininemia

textual definition

An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.

引自

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

有_obo_命名空间

disease_ontology

subClassOf

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

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