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DO Term : split hand-foot malformation 1 [DOID:0090021] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ORDO:2440,
  • SHFM1,
  • 183600,
  • OMIM:183600,
  • ICD10CM:Q71.6,
  • SHFD1
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