Preferred Name |
argininosuccinic aciduria |
Synonyms |
argininosuccinic acidemia |
Definitions |
An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. OMIM mapping confirmed by DO. [SN]. |
ID |
http://purl.obolibrary.org/obo/DOID_14755 |
comment |
OMIM mapping confirmed by DO. [SN]. |
database_cross_reference |
OMIM:207900 UMLS_CUI:C0268547 SNOMEDCT_US_2020_03_01:41013004 NCI:C84569 GARD:5843 MESH:D056807 |
has exact synonym |
argininosuccinic acidemia arginosuccinase deficiency Argininosuccinate lyase deficiency deficiency of argininosuccinate lyase |
id |
DOID:14755 |
in_subset | |
label |
argininosuccinic aciduria |
notation |
DOID:14755 |
prefLabel |
argininosuccinic aciduria |
textual definition |
An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. |
引自 | |
有_obo_命名空间 |
disease_ontology |
subClassOf |