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Metadata
ID	DOID:0070691
PURL	http://purl.obolibrary.org/obo/DOID_0070691 Copy Copied!
Name	craniosynostosis-scoliosis syndrome
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/
Xrefs	MIM:621499
SKOS	exactMatch MIM:621499
Parent Relationships	is_a autosomal recessive disease is_a vitamin metabolic disorder
Subclass Logical Relationships	existence starts during some Antenatal onset has material basis in some autosomal recessive inheritance