| Disease ID | Source | Name | Description |
| 600145 | OMIM | Sacral defect with anterior meningocele (SDAM) | Form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |
| 182940 | OMIM | Neural tube defects (NTD) | Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. The disease is caused by variants affecting the gene represented in this entry. |