Search Ontology:
Human Disease

oculovertebral syndrome

Term ID
DOID:0070822
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. https://pubmed.ncbi.nlm.nih.gov/40610405/
References
Ontology
Human Disease   ( DOID:0070822 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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