Human Disease Ontology 123

Last uploaded: September 28, 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_2022_09_01:23501004

OMIM:207800

UMLS_CUI:C0268548

NCI:C84568

ICD10CM:E72.21

definition

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

has exact synonym

argininemia

Arginase deficiency

deficiency of canavanase

has_obo_namespace

disease_ontology

id

DOID:9278

in_subset

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

label

hyperargininemia

notation

DOID:9278

prefLabel

hyperargininemia

subClassOf

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

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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84769 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/D020162 Medical Subject Headings LOOM