loading...| Preferred Name |
3-methylcrotonyl-CoA carboxylase deficiency |
| Synonyms |
3-methylcrotonyl-CoA carboxylase deficiency methylcrotonylglycinuria MCCD 3-MCC deficiency BMCC deficiency 3MCC deficiency Methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonylglycinuria MCC deficiency |
| Definitions |
3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0018950 |
| database_cross_reference |
GARD:0010954 UMLS:CN239165 OMIMPS:210200 DOID:0050710 Orphanet:6 SCTID:13144005 UMLS:C0268600 NCIT:C98674 |
| definition |
3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. |
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0268600 http://identifiers.org/snomedct/13144005 http://purl.obolibrary.org/obo/NCIT_C98674 http://purl.obolibrary.org/obo/Orphanet_6 http://purl.obolibrary.org/obo/DOID_0050710 |
| has_exact_synonym |
3-methylcrotonyl-CoA carboxylase deficiency MCCD 3-MCC deficiency BMCC deficiency 3MCC deficiency Methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonylglycinuria MCC deficiency |
| has_related_synonym |
methylcrotonylglycinuria |
| IAO_0000233 | |
| id |
MONDO:0018950 |
| in_subset | |
| label |
3-methylcrotonyl-CoA carboxylase deficiency |
| notation |
MONDO:0018950 |
| prefLabel |
3-methylcrotonyl-CoA carboxylase deficiency |
| treeView | |
| subClassOf |