vertebral hypersegmentation and orofacial anomalies

Term ID

DOID:0070418

Synonyms

• VHO

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/

References

• OMIM:619122

Ontology

Human Disease   ( DOID:0070418 )