| Disease ID | Source | Name | Description |
| 302960 | OMIM | Chondrodysplasia punctata 2, X-linked dominant (CDPX2) | A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues. The disease is caused by variants affecting the gene represented in this entry. |
| 300960 | OMIM | MEND syndrome (MEND) | An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. The disease is caused by variants affecting the gene represented in this entry. |