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 3 ID (Ontology) DOID:0090025 (Human Disease)
Definition A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24.
Also Known As "chromosome 10q24 duplication syndrome" ; "distal limb deficiencies with micrognathia" ; "SHFM3"
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Spanning Tree (Parents/Children)
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bone development disease
 |__split hand-foot malformation______
chromosomal disease                   |
 |__chromosomal duplication syndrome__|
                                      split hand-foot malformation 3
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Is a chromosomal duplication syndrome
split hand-foot malformation
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Synonyms
  • "chromosome 10q24 duplication syndrome" EXACT
    "distal limb deficiencies with micrognathia" EXACT
    "SHFM3" EXACT OMO:0003012
Secondary IDs
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MESH:C574275
MIM:246560
NCI:C75000
ORDO:2440
SNOMEDCT_US_2023_03_01:81208006
UMLS_CUI:C0265554