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Human Phenotype Ontology
Last uploaded:
March 3, 2025
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| Id | http://purl.obolibrary.org/obo/HP_0002912
http://purl.obolibrary.org/obo/HP_0002912
|
|---|---|
| Preferred Name | Methylmalonic acidemia |
| Definitions |
Increased concentration of methylmalonic acid in the blood.
Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism.
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| Synonyms |
Elevated circulating methylmalonic acid concentration
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Increased concentration of methylmalonic acid in the blood. |
|---|---|
| label | Methylmalonic acidemia
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| comment | Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism.
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| prefLabel | Methylmalonic acidemia
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| database_cross_reference |
SNOMEDCT_US:42393006
UMLS:C0268583
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| notation | HP:0002912
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| id | HP:0002912
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| has_obo_namespace | human_phenotype
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| subClassOf | |
| has_alternative_id |
HP:0003123
HP:0008295
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| type | |
| has_exact_synonym | Elevated circulating methylmalonic acid concentration
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