| Term Name: | Adams-Oliver syndrome 4 |
|---|---|
| Synonyms: | AOS4 |
| Definition: | An Adams-Oliver syndrome that is characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes and that has_material_basis_in homozygous mutation in the EOGT gene on chromosome 3p14.1. |
| Ontology: | Human Disease [DOID:0061346] ( DOID:0061346 ) |