Hyperammonemic encephalopathy
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| HYPERAMMONEMIC ENCEPHALOPATHY DUE TO CARBONIC ANHYDRASE VA DEFICIENCY | CA5A | Causal | ClinGen, ClinVar, Orphanet, Disgenet |