1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0080253 | Meckel syndrome 13 | A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050778 | Meckel syndrome | A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. |
