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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES
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Accession:DOID:9004229 term browser browse the term
Definition:This disease is characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs.
Synonyms:exact_synonym: VHO
 primary_id: OMIM:619122
For additional species annotation, visit the Alliance of Genome Resources.



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VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf11 growth differentiation factor 11 ISO ClinVar Annotator: match by term: Vertebral hypersegmentation and orofacial anomalies OMIM
ClinVar
PMID:25741868 PMID:31215115 NCBI chr 7:1,311,732...1,325,211
Ensembl chr 7:1,311,732...1,320,725
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      musculoskeletal system disease 7162
        connective tissue disease 4954
          bone disease 3629
            spinal disease 937
              VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES 1
paths to the root