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DO Term : orofaciodigital syndrome XVIII [DOID:0060961] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13.
  • synonyms:
  • Oral-facial-digital syndrome with short stature and brachymesophalangy,
  • Oral-facial-digital syndrome type 18,
  • ORDO:508501,
  • 617927,
  • Orofaciodigital syndrome type 18,
  • OMIM:617927
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