congenital disorder of deglycosylation
GPTKB entity
Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
congenital metabolic disorder |
| gptkbp:affects |
gptkb:nervous_system
muscular system |
| gptkbp:affectsProcess |
deglycosylation
|
| gptkbp:causedBy |
genetic disorder
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital disorder of deglycosylation
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:onset |
congenital
|
| gptkbp:symptom |
hypotonia
seizures developmental delay |
| gptkbp:bfsParent |
gptkb:N-glycanase_1
gptkb:NGLY1 gptkb:NGLY1_deficiency |
| gptkbp:bfsLayer |
7
|