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
  • ICD10CM:Q71.6
  • MIM:183600
  • ORDO:2440
Ontology
Human Disease   ( DOID:0090021 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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