Preferred Name |
Hyperargininemia |
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84769 |
Obsolete |
true |
code |
C84769 |
Concept_Status |
Retired_Concept |
DEFINITION |
A rare autosomal recessive disorder characterized by abnormalities in the urea cycle. It is caused by deficiency of the enzyme arginase, resulting in increased levels of arginine in the plasma and the cerebrospinal fluid. It affects the nervous system. |
deprecated |
true |
DesignNote |
Tue Jan 26 14:40:51 EST 2010 - See 'Argininemia' |
label |
Hyperargininemia |
OLD_PARENT |
Rare_Non-Neoplastic_Disorder |
Preferred_Name |
Hyperargininemia |
prefixIRI |
C84769 |
prefLabel |
Hyperargininemia |
Semantic_Type |
Disease or Syndrome |
UMLS_CUI |
C0268548 |
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/DOID_9278 | Human Disease Ontology 123 | LOOM | |
http://purl.bioontology.org/ontology/MESH/D020162 | Medical Subject Headings | LOOM |