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loading...| Preferred Name |
Argininosuccinic Aciduria |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84569 |
| code |
C84569 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
| Contributing_Source |
NICHD Cellosaurus |
| DEFINITION |
A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation. |
| FULL_SYN |
Argininosuccinic Aciduria Argininosuccinate Lyase Deficiency |
| label |
Argininosuccinic Aciduria |
| Preferred_Name |
Argininosuccinic Aciduria |
| prefixIRI |
Thesaurus:C84569 |
| prefLabel |
Argininosuccinic Aciduria |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0268547 |
| subClassOf |
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