Preferred Name |
Maple syrup urine disease |
|
Synonyms |
BCKD deficiency Leucinosis BCKDH deficiency Branched-chain ketoacid dehydrogenase deficiency Branched-chain ketoaciduria MSUD |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_708 |
|
ageOfOnset |
Neonatal/infancy |
|
altLabel |
BCKD deficiency Leucinosis BCKDH deficiency Branched-chain ketoacid dehydrogenase deficiency Branched-chain ketoaciduria MSUD |
|
id_MedDRA |
10026817 |
|
id_Medline | ||
id_MeSH |
D008375 |
|
id_MIM |
248600 615135 |
|
id_OMS |
E71.0 |
|
id_Orpha |
511 |
|
id_SNOMEDCT |
190700007 24013007 27718001 |
|
id_UMLS |
C0024776 C0268576 |
|
inheritance |
Autosomal recessive |
|
patType |
disease |
|
prefixIRI |
hrdo:pat_id_708 |
|
prefLabel |
Maple syrup urine disease |
|
prevalence |
Unknown |
|
subClassOf |
Create mapping