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loading...| Preferred Name |
Argininemia |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84568 |
| code |
C84568 |
| DEFINITION |
A rare autosomal recessive metabolic disorder characterized by a deficiency of the enzyme arginase resulting in accumulation of arginine and urea in the blood and cerebrospinal fluid. Signs and symptoms include developmental delays, spasticity, ataxia, seizures and mental retardation. |
| FULL_SYN |
Hyperargininemia |
| label |
Argininemia |
| Preferred_Name |
Argininemia |
| prefixIRI |
C84568 |
| prefLabel |
Argininemia |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0268548 |
| subClassOf |
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