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Human Disease

orofaciodigital syndrome XVIII

Term ID
DOID:0060961
Synonyms
  • Oral-facial-digital syndrome type 18
  • Oral-facial-digital syndrome with short stature and brachymesophalangy
  • Orofaciodigital syndrome type 18
Definition
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. https://pubmed.ncbi.nlm.nih.gov/27060890/
References
Ontology
Human Disease   ( DOID:0060961 )
Relationships
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Genes Involved
Zebrafish Models