CUI | Disease | Vocabulary | Name in Vocabulary | Code |
---|---|---|---|---|
C3808991 | NGLY1 deficiency | DO | NGLY1-deficiency | 0060728 |
C3808991 | NGLY1 deficiency | MONDO | NGLY1-deficiency | 0014109 |
C3808991 | NGLY1 deficiency | MSH | NGLY1 deficiency | C000626124 |
C3808991 | NGLY1 deficiency | NCI | CDDG | C126746 |
C3808991 | NGLY1 deficiency | NCI | Congenital Disorder of Deglycosylation | C126746 |
C3808991 | NGLY1 deficiency | OMIM | CONGENITAL DISORDER OF DEGLYCOSYLATION | 615273 |
C3808991 | NGLY1 deficiency | ORDO | Alacrimia-choreoathetosis-liver dysfunction syndrome | 404454 |