FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term syndactyly type 1 ID (Ontology) DOID:0111816 (Human Disease)
Definition A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36.
Also Known As "chromosome 2q35 duplication syndrome" ; "SDTY1" ; "syndactyly, type 1, with or without craniosynostosis"
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease________
chromosomal disease                   |
 |__chromosomal duplication syndrome__|
synostosis                            |
 |__syndactyly________________________|
                                      syndactyly type 1
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Is a autosomal dominant disease
chromosomal duplication syndrome
syndactyly
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Synonyms
  • "chromosome 2q35 duplication syndrome" EXACT
    "SDTY1" EXACT OMO:0003012
    "syndactyly, type 1, with or without craniosynostosis" EXACT
Secondary IDs
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GARD:5081
MIM:185900
ORDO:93402