loading...| Preferred Name |
glutaryl-CoA dehydrogenase deficiency |
|
| Synonyms |
glutaric acidemia type 1 glutaryl-CoA dehydrogenase deficiency glutaric aciduria type 1 glutaryl-coenzyme A dehydrogenase deficiency glutaricaciduria, type I glutaric aciduria, type 1 GA1 GCDHD glutaric acidemia 1 glutaric acidemia, type 1 glutaric aciduria type I glutaric acidemia I glutaric aciduria 1 glutaric acidemia type I Ga 1 |
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| Definitions |
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009281 |
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| has_exact_synonym |
glutaric acidemia type 1 glutaryl-CoA dehydrogenase deficiency glutaric aciduria type 1 glutaryl-coenzyme A dehydrogenase deficiency glutaricaciduria, type I glutaric aciduria, type 1 GA1 GCDHD |
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| has_related_synonym |
glutaric acidemia 1 glutaric acidemia, type 1 glutaric aciduria type I glutaric acidemia I glutaric aciduria 1 glutaric acidemia type I Ga 1 |
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| IAO_0000233 | ||
| label |
glutaryl-CoA dehydrogenase deficiency |
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| prefixIRI |
MONDO:0009281 |
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| prefLabel |
glutaryl-CoA dehydrogenase deficiency |
|
| textual definition |
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. |
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| subClassOf |