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loading...| Preferred Name |
Maple syrup urine disease, type 1B |
| Synonyms |
MSUD1B |
| ID |
http://purl.bioontology.org/ontology/MESH/C535711 |
| altLabel |
MSUD1B Maple Syrup Urine Disease, Type IB |
| 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 T823680 T823681 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
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