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Search summary (Disease ID: MONDO:0032780)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (Disease ID: MONDO:0032780)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0032780
MONDO:0032780
Disease Name:
hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
OMIM id:
OMIM:618493
All associated enzymes in DAR:
P4HTM
P4HTM
Q9NXG6
1.14.11.29