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Search summary (Disease ID: MONDO:0033613)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (Disease ID: MONDO:0033613)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0033613
MONDO:0033613
Disease Name:
neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
OMIM id:
OMIM:619026
Orphanet id:
Orphanet:210141
All associated enzymes in DAR:
HPDL
HPDL
Q96IR7
1.13.-.-