Search Ontology:
Human Disease

split hand-foot malformation 1

Term ID
DOID:0090021
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. (2)
References
Ontology
Human Disease   ( DOID:0090021 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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