FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term syndactyly type 8 ID (Ontology) DOID:0111813 (Human Disease)
Definition A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1.
Also Known As "fusion of metacarpals 4 and 5" ; "metacarpal 4-5 fusion"
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 Genes
 syndactyly type 8       1
 for disease ribbon | syndactyly type 8       1
 model of | syndactyly type 8       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
synostosis                      |
 |__syndactyly__________________|
                                syndactyly type 8  1 rec.
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Is a X-linked recessive disease
syndactyly
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Synonyms
  • "fusion of metacarpals 4 and 5" EXACT
    "metacarpal 4-5 fusion" EXACT
Secondary IDs
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GARD:3559
MESH:C564100
MIM:309630
ORDO:2498
SNOMEDCT_US_2023_03_01:715442006
UMLS_CUI:C1839728