loading...| Preferred Name |
hyperargininemia |
| Synonyms |
argininemia deficiency of canavanase Arg1 deficiency arginase deficiency hyperargininemia |
| Definitions |
Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0008814 |
| closeMatch | |
| database_cross_reference |
SCTID:23501004 GARD:0005840 MESH:D020162 MedDRA:10062695 OMIM:207800 Orphanet:90 DOID:9278 NCIT:C84568 UMLS:C0268548 |
| definition |
Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. |
| exactMatch |
http://identifiers.org/mesh/D020162 http://identifiers.org/snomedct/23501004 http://purl.obolibrary.org/obo/Orphanet_90 http://purl.obolibrary.org/obo/DOID_9278 |
| has_exact_synonym |
argininemia deficiency of canavanase arginase deficiency hyperargininemia |
| has_related_synonym |
Arg1 deficiency |
| IAO_0000233 | |
| id |
MONDO:0008814 |
| in_subset | |
| label |
hyperargininemia |
| notation |
MONDO:0008814 |
| prefLabel |
hyperargininemia |
| treeView | |
| subClassOf |