FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Saethre-Chotzen syndrome ID (Ontology) DOID:14768 (Human Disease)
Definition An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
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 Genes
 Saethre-Chotzen syndrome       3
 for disease ribbon | Saethre-Chotzen syndrome       3
 model of | Saethre-Chotzen syndrome       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
synostosis                      |
 |__acrocephalosyndactylia______|
                                Saethre-Chotzen syndrome  3 rec.
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Is a autosomal dominant disease
acrocephalosyndactylia
Part of
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Synonyms
  • "acrocephalosyndactyly type III" RELATED
Secondary IDs
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GARD:7598
MESH:D000168
MIM:101400
MIM:180750
NCI:C75034
ORDO:794
SNOMEDCT_US_2023_03_01:390726000
UMLS_CUI:C0175699