Term Name: | vertebral hypersegmentation and orofacial anomalies |
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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. |
Ontology: | Human Disease [DOID:0070418] ( DOID:0070418 ) |