| ACRD | Acrodysostosis |
| ACMG/AMP | American College of Medical Genetics and Genomics/Association for Molecular Pathology |
| BDA1 | Brachydactyly type A1 |
| BMI | Body Mass Index |
| CADD | Combined Annotation Dependent Depletion |
| CD | Celiac disease |
| CGD | Constitutional growth delay |
| FGFR3 | Fibroblast Growth Factor Receptor 3 |
| GH | Growth Hormone |
| GHD | Growth Hormone Deficiency |
| IGF-1 | Insulin-like Growth Factor 1 |
| IGFBP-3 | Insulin-like Growth Factor Binding Protein 3 |
| IHH | Indian Hedgehog |
| MAS | Meconium Aspiration Syndrome |
| OMIM | Online Mendelian Inheritance in Man |
| PHP | Pseudohypoparathyroidism |
| REVEL | Rare Exome Variant Ensemble Learner |
| rhGH | Recombinant Human Growth Hormone |
| SHOX | Short Stature Homeobox |