| Metadata | |
|---|---|
| ID | DOID:0090021 |
| Name | split hand-foot malformation 1 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/24496061, https://www.ncbi.nlm.nih.gov/pubmed/7616545 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
SHFD1 [EXACT] SHFM1 [EXACT] |
| Parent Relationships |