| Disease ID | Source | Name | Description |
| 127000 | OMIM | Kenny-Caffey syndrome 2 (KCS2) | A disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. The disease is caused by variants affecting the gene represented in this entry. |
| 602361 | OMIM | Gracile bone dysplasia (GCLEB) | A perinatally lethal condition characterized by narrowing of the medullary cavity of the long bones and of the skull, gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. Most affected individuals who survive beyond the perinatal period develop hypocalcemia with low parathyroid hormone levels. The disease is caused by variants affecting the gene represented in this entry. |