Preferred Name | Maple syrup urine disease, type 1B | |
Synonyms |
Maple Syrup Urine Disease, Type IB MSUD1B |
|
ID |
http://purl.bioontology.org/ontology/MESH/C535711 |
|
altLabel |
Maple Syrup Urine Disease, Type IB MSUD1B |
|
cui |
C2930990 |
|
HM |
D008375 |
|
Inverse of RB |
0 |
|
Mapped to | ||
MDA |
20100825 |
|
MeSH Frequency |
2 |
|
MMR |
20140808 |
|
notation |
C535711 |
|
prefLabel |
Maple syrup urine disease, type 1B |
|
SC |
3 |
|
Scope Statement |
MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex |
|
TERMUI |
T736955 T823681 T823680 |
|
TH |
OMIM (2013) ORD (2010) |
|
tui |
T047 |
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