Term Name: | split hand-foot malformation 1 |
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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 ) |