Search Ontology:
Human Disease
craniosynostosis-scoliosis syndrome
- Term ID
- DOID:0070691
- Synonyms
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- Definition
- A vitamin metabolic disorder characterized by coronal craniosynostosis and thoracolumbar scoliosis, in association with facial dysmorphisms including midface hypoplasia and hypertelorism, and congenital heart disease, mostly atrial septal defect that has_material_basis_in homozygous mutation in the DHRS3 gene on chromosome 1p36, resulting in pathological excess of plasma retinoic acid. https://pmc.ncbi.nlm.nih.gov/articles/PMC12167057/
- References
- Ontology
- Human Disease ( DOID:0070691 )
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Genes Involved
Zebrafish Models