FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term split hand-foot malformation 1 ID (Ontology) DOID:0090021 (Human Disease)
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.
Also Known As "SHFD1" ; "SHFM1"
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 Genes
 split hand-foot malformation 1       1
 for disease ribbon | split hand-foot malformation 1       1
 model of | split hand-foot malformation 1       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease____
bone development disease          |
 |__split hand-foot malformation__|
                                  split hand-foot malformation 1  1 rec.
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Is a autosomal dominant disease
split hand-foot malformation
Part of
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Synonyms
  • "SHFD1" EXACT OMO:0003012
    "SHFM1" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q71.6
MIM:183600
ORDO:2440