Term Name: spondylocostal dysostosis 7
Synonyms:
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.
Ontology: Human Disease [DOID:0061255]   ( DOID:0061255 )

Relationships
is a type of: autosomal recessive disease spondylocostal dysostosis