Visualize Submit Comment

Metadata
ID	DOID:0061255
PURL	http://purl.obolibrary.org/obo/DOID_0061255 Copy Copied!
Name	spondylocostal dysostosis 7
Definition	A spondylocostal dysostosis characterized by severe rib and vertebral malformations, which may result in lethal respiratory compromise that has_material_basis_in homozygous mutation in the DMRT2 gene on chromosome 9p24. https://pubmed.ncbi.nlm.nih.gov/41014130/
Xrefs	MIM:621523
Parent Relationships	is_a spondylocostal dysostosis is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance