| Disease ID | Source | Name | Description |
| 173100 | OMIM | Growth hormone deficiency, isolated, 2 (IGHD2) | An autosomal dominant deficiency of growth hormone leading to short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy. The disease is caused by variants affecting the gene represented in this entry. |
| 612781 | OMIM | Growth hormone deficiency, isolated, 1B (IGHD1B) | An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. The disease is caused by variants affecting the gene represented in this entry. |
| 262400 | OMIM | Growth hormone deficiency, isolated, 1A (IGHD1A) | An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone. The disease is caused by variants affecting the gene represented in this entry. |
| 262650 | OMIM | Kowarski syndrome (KWKS) | A syndrome clinically characterized by short stature associated with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy. The disease is caused by variants affecting the gene represented in this entry. |