| Disease ID | Source | Name | Description |
| 206500 | OMIM | Anencephaly (ANPH) | An extreme form of neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |