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loading...| Preferred Name |
isovaleric acidemia |
| Synonyms |
isovaleric aciduria |
| Definitions |
An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_14753 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
GARD:465 ICD10CM:E71.110 UMLS_CUI:C0268575 MESH:C538167 NCI:C98964 OMIM:243500 SNOMEDCT_US_2022_09_01:87827003 |
| definition |
An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. |
| has exact synonym |
isovaleric aciduria Isovaleryl-CoA dehydrogenase deficiency isovaleric acid CoA dehydrogenase deficiency |
| has_obo_namespace |
disease_ontology |
| id |
DOID:14753 |
| in_subset | |
| label |
isovaleric acidemia |
| notation |
DOID:14753 |
| prefLabel |
isovaleric acidemia |
| subClassOf |
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