| Term Name: | split hand-foot malformation 1 | 
|---|---|
| Synonyms: | SHFD1, SHFM1 | 
| Definition: | A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. | 
| Ontology: | Human Disease [DOID:0090021] ( DOID:0090021 ) |