RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
OFD18; OFDS XVIII; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVIII; Oral-facial-digital syndrome type 18; Oral-facial-digital syndrome with short stature and brachymesophalangy; Orofaciodigital syndrome type 18; orofaciodigital syndrome 18