loading...| Preferred Name |
3-Methylglutaconic aciduria |
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| Synonyms |
3-Methylglutaconicaciduria |
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| Definitions |
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. An increased amount of 3-methylglutaconic acid in the urine. |
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| ID |
http://purl.obolibrary.org/obo/HP_0003535 |
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| 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. |
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| database_cross_reference |
UMLS:C3696376 SNOMEDCT_US:237950009 MSH:C579867 |
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| definition |
An increased amount of 3-methylglutaconic acid in the urine. |
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| has exact synonym |
3-Methylglutaconicaciduria |
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| id |
HP:0003535 |
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| label |
3-Methylglutaconic aciduria |
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| notation |
HP:0003535 |
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| prefLabel |
3-Methylglutaconic aciduria |
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| subClassOf |