Search Ontology:
Human Disease
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
- Term ID
- DOID:0112294
- Synonyms
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- Definition
- A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. https://pubmed.ncbi.nlm.nih.gov/9557884/
- References
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- MIM:602611
- ORDO:163649
- Ontology
- Human Disease ( DOID:0112294 )
- is a type of
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Genes Involved
Zebrafish Models