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ZIRC
OBO ID: DOID:14768
Term Name: Saethre-Chotzen syndrome Search Ontology:
Synonyms:
  • acrocephalosyndactyly type III
Definition: An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. (5)
References:
Ontology: Human Disease   (DOID:14768)
OTHER Saethre-Chotzen syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FGFR2 Saethre-Chotzen syndrome 101400
TWIST1 Saethre-Chotzen syndrome with or without eyelid anomalies 101400
PHENOTYPE No data available

CITATIONS (2)