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Human Disease Ontology
Last uploaded:
December 20, 2024
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| Preferred Name | maple syrup urine disease | |
| Synonyms |
dihydrolipoamide dehydrogenase deficiency Ketoacidaemia branched chain ketoaciduria |
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| Definitions |
An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_9269 |
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| comment |
Xref MGI.
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
UMLS_CUI:C0024776 MESH:D008375 ICD10CM:E71.0 SNOMEDCT_US_2023_03_01:27718001 GARD:3228 MIM:246900 MIM:248600 MIM:615135 NCI:C34806 ORDO:511
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|
| definition |
An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
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| has exact synonym |
Ketoacidaemia branched chain ketoaciduria
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| has symptom | ||
| has_obo_namespace |
disease_ontology
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| has_related_synonym |
dihydrolipoamide dehydrogenase deficiency
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| id |
DOID:9269
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| in_subset | ||
| label |
maple syrup urine disease
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|
| notation |
DOID:9269
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| prefLabel |
maple syrup urine disease
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| subClassOf |
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