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Disease Ontology Browser
orofaciodigital syndrome XVIII (DOID:0060961)
Alliance: disease page
Synonyms: Oral-facial-digital syndrome type 18; Oral-facial-digital syndrome with short stature and brachymesophalangy; Orofaciodigital syndrome type 18
Alt IDs: OMIM:617927, ORDO:508501
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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06/12/2024
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