Search Ontology:
Human Disease
orofaciodigital syndrome XVIII
- Term ID
- DOID:0060961
- Synonyms
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- 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
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- MIM:617927
- ORDO:508501
- Ontology
- Human Disease ( DOID:0060961 )
- is a type of
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Genes Involved
Zebrafish Models
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