| Metadata | |
|---|---|
| ID | DOID:0070822 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070822 Copy |
| Name | oculovertebral syndrome |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6065896 exactMatch MIM:621277 |
| Subsets |
DO_rare_slim |
| Synonyms |
OVS [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |