Term Name: spondylocostal dysostosis 4
Synonyms: autosomal recessive spondylocostal dysostosis 4, SCDO4
Definition: A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1.
Ontology: Human Disease [DOID:0112364]   ( DOID:0112364 )

Relationships
is a type of: autosomal recessive disease spondylocostal dysostosis