1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070479 | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
