| Metadata | |
|---|---|
| ID | DOID:0070418 |
| Name | vertebral hypersegmentation and orofacial anomalies |
| Definition | A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/31215115/ |
| Xrefs | |
| Synonyms |
VHO [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |