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maple syrup urine disease type 1B
maple syrup urine disease caused by mutations in BCKDHB
MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex
MSUD type 3 (formerly)
MSUD type IB
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Statements
subclass of
maple syrup urine disease
0 references
genetic association
BCKDHB
2 references
stated in
ClinGen
retrieved
8 December 2020
reference URL
https://search.clinicalgenome.org/kb/gene-validity/0b0d314c-7355-441c-a357-72ba3e566c57--2019-02-08T17:00:00
stated in
ClinGen
retrieved
25 January 2022
reference URL
https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b0d314c-7355-441c-a357-72ba3e566c57-2019-02-08T170000.000Z
Identifiers
GARD rare disease ID
8597
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0023692
Mondo ID
MONDO_0023692
0 references
OMIM ID
248600
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0023692
UMLS CUI
C2930990
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0023692
UniProt disease ID
DI-01937
0 references
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