loading...| Preferred Name |
Methylmalonic acidemia |
| Synonyms |
Elevated circulating methylmalonic acid concentration |
| Definitions |
Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Increased concentration of methylmalonic acid in the blood. |
| ID |
http://purl.obolibrary.org/obo/HP_0002912 |
| comment |
Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. |
| database_cross_reference |
MSH:C537358 SNOMEDCT_US:42393006 UMLS:C0268583 |
| definition |
Increased concentration of methylmalonic acid in the blood. |
| has_alternative_id |
HP:0003123 HP:0008295 |
| has_exact_synonym |
Elevated circulating methylmalonic acid concentration |
| has_obo_namespace |
human_phenotype |
| id |
HP:0002912 |
| label |
Methylmalonic acidemia |
| notation |
HP:0002912 |
| prefLabel |
Methylmalonic acidemia |
| treeView |
http://purl.obolibrary.org/obo/HP_0004341 |
| subClassOf |
http://purl.obolibrary.org/obo/HP_0004341 |