inborn_metabolic¶
http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml
Description¶
An inherited metabolic disease that causes disruption of a process.
Contributors¶
Name¶
inborn {process} disorder
Annotations¶
-
related_synonym: rare inborn error of {process}
-
exact_synonym: inborn error of {process}
Definition¶
An inherited metabolic disease that is has its basis in the disruption of {process}.
Equivalent to¶
ieom and disease has basis in disruption of some {process}
Data preview¶
| defined_class | defined_class_label | process | process_label |
|---|---|---|---|
| MONDO:0009825 | 5-oxoprolinase deficiency | GO:0017168 | 5-oxoprolinase (ATP-hydrolyzing) activity |
| MONDO:0005775 | G6PD deficiency | GO:0004345 | glucose-6-phosphate dehydrogenase activity |
| MONDO:0007068 | adenylosuccinate lyase deficiency | GO:0070626 | (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity |
| MONDO:0009665 | biotinidase deficiency | GO:0047708 | biotinidase activity |
| MONDO:0015286 | congenital disorder of glycosylation | GO:0070085 | glycosylation |
See full table here