FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term orofaciodigital syndrome XVIII ID (Ontology) DOID:0060961 (Human Disease)
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.
Also Known As "Oral-facial-digital syndrome type 18" ; "Oral-facial-digital syndrome with short stature and brachymesophalangy" ; "Orofaciodigital syndrome type 18"
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 Genes
 orofaciodigital syndrome XVIII       1
 for disease ribbon | orofaciodigital syndrome XVIII       1
 model of | orofaciodigital syndrome XVIII       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
syndrome                         |
 |__orofaciodigital syndrome_____|
                                 orofaciodigital syndrome XVIII  1 rec.
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Is a autosomal recessive disease
orofaciodigital syndrome
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Synonyms
  • "Oral-facial-digital syndrome type 18" EXACT
    "Oral-facial-digital syndrome with short stature and brachymesophalangy" EXACT
    "Orofaciodigital syndrome type 18" EXACT
Secondary IDs
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MIM:617927
ORDO:508501