FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term acrofacial dysostosis ID (Ontology) DOID:0060379 (Human Disease)
Definition A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene.
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  bone development disease
   |__dysostosis
       |__acrofacial dysostosis  2 rec.
           |__acrofacial dysostosis Cincinnati type 1 rec.
           |__acrofacial dysostosis Rodriguez type
           |__acrofacial dysostosis, Catania type
           |__acrofacial dysostosis, Patagonia type
           |__Nager acrofacial dysostosis 1 rec.
           |__Weyers acrofacial dysostosis
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