OBO ID: DOID:0090021
Term Name: split hand-foot malformation 1 Search Ontology:
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 )
OTHER split hand-foot malformation 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DLX5 Split-hand/foot malformation 1 183600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None