Aspartylglucosaminuria
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Aspartylglucosamidase (AGA) deficiency | C2931840 | AGA | Causal Pathogenic evidence from ClinVar | 11309371 | ClinVar |
| Aspartylglucosaminuria | 93 | AGA | Causal Pathogenic evidence from ClinVar | - | ClinVar |