loading...| Preferred Name |
3-Methylglutaconic aciduria |
| Synonyms |
3-Methylglutaconicaciduria |
| Definitions |
An increased amount of 3-methylglutaconic acid in the urine. 3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine. |
| ID |
http://purl.obolibrary.org/obo/HP_0003535 |
| comment |
3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine. |
| database_cross_reference |
SNOMEDCT_US:237950009 MSH:C579867 UMLS:C3696376 |
| definition |
An increased amount of 3-methylglutaconic acid in the urine. |
| has_exact_synonym |
3-Methylglutaconicaciduria |
| has_obo_namespace |
human_phenotype |
| id |
HP:0003535 |
| label |
3-Methylglutaconic aciduria |
| notation |
HP:0003535 |
| prefLabel |
3-Methylglutaconic aciduria |
| treeView | |
| subClassOf |