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 |