spondylocostal dysostosis 4

Term ID

DOID:0112364

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. https://pubmed.ncbi.nlm.nih.gov/18775957/

References

MIM:613686

Ontology

Human Disease ( DOID:0112364 )

Relationships

is a type of: autosomal recessive disease spondylocostal dysostosis

autosomal recessive disease spondylocostal dysostosis Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models