Jump to:
loading...| 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_2022_09_01:41013004 NCI:C84569 GARD:5843 MESH:D056807 |
| definition |
An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. |
| has exact synonym |
argininosuccinic acidemia arginosuccinase deficiency Argininosuccinate lyase deficiency deficiency of argininosuccinate lyase |
| has_obo_namespace |
disease_ontology |
| id |
DOID:14755 |
| in_subset | |
| label |
argininosuccinic aciduria |
| notation |
DOID:14755 |
| prefLabel |
argininosuccinic aciduria |
| subClassOf |
Create New Mapping