Term Name:	oculovertebral syndrome
Synonyms:	OVS
Definition:	A syndrome characterized by variable expressivity of uveal coloboma, often associated with other ocular abnormalities, and missing vertebrae in the thoracic and/or lumber spine that has_material_basis_in heterozygous mutation in the NR6A1 gene on chromosome 9q33.
Ontology:	Human Disease [DOID:0070822]   ( DOID:0070822 )