Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

MAPLE SYRUP URINE DISEASE, TYPE IB
Synonyms

MSUD1B

ID

http://purl.bioontology.org/ontology/OMIM/620698

altLabel

MSUD1B

cui

C2930990

Gene Locus

6q14

Gene Symbol

BCKDHB

MSUD1B

E1B

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

620698

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

MAPLE SYRUP URINE DISEASE, TYPE IB

tui

T047

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