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Diseases

Maple Syrup Urine Disease

maple syrup urine disease

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Maple Syrup Urine Disease
Standard Disease Name
maple syrup urine disease
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
D020244
OMIM ID
No data
UMLS ID
C0740392
HPO ID
No data

Description and Extensions

Description
MSH2017_2016_08_12:NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
01
BCAT2
branched chain amino acid transaminase 2
branched chain amino acid transaminase 2
02
BCKDHA
branched chain keto acid dehydrogenase E1 subunit alpha
branched chain keto acid dehydrogenase E1 subunit alpha
03
BDNF
brain derived neurotrophic factor
brain derived neurotrophic factor
06
DBT
dihydrolipoamide branched chain transacylase E2
dihydrolipoamide branched chain transacylase E2