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Search summary (Disease ID: MONDO:0060759)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (Disease ID: MONDO:0060759)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0060759
MONDO:0060759
Disease Name:
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
OMIM id:
OMIM:618088
Orphanet id:
Orphanet:597623
All associated enzymes in DAR:
IRF2BPL
IRF2BPL
Q9H1B7
2.3.2.27