| AAT | Alpha-1 Antitrypsin |
| AASLD | American Association for the Study of Liver Diseases |
| ALGS | Alagille Syndrome |
| ATP7B | ATPase Copper Transporting Beta |
| GAGs | Glycosaminoglycans |
| GALT | Galactose-1-Phosphate Uridylyltransferase |
| HBV | Hepatitis B Virus |
| HCC | Hepatocellular Carcinoma |
| HCV | Hepatitis C Virus |
| HFE | Homeostatic Iron Regulator |
| HH | Hereditary Hemochromatosis |
| ICI | Immune Checkpoint Inhibitor |
| JAG1 | Jagged Canonical Notch Ligand 1 |
| KF | Kayser–Fleischer |
| MPS | Mucopolysaccharidoses |
| NOTCH2 | Notch Receptor 2 |
| NPC1/NPC2 | Niemann–Pick Disease Type C1/C2 |
| NPD | Niemann–Pick Disease |
| OCT | Optical Coherence Tomography |
| PEX | Peroxisomal Biogenesis Factor |
| TKI | Tyrosine Kinase Inhibitor |
| VEGF | Vascular Endothelial Growth Factor |
| VSGP | Vertical Supranuclear Gaze Palsy |
| ZSD | Zellweger Spectrum Disorder |