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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:Sacral Agenesis with Vertebral Anomalies
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Accession:DOID:9004975 term browser browse the term
Synonyms:exact_synonym: SAVA
 primary_id: OMIM:615709;   RDO:9001035
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Sacral Agenesis with Vertebral Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbxt T-box transcription factor T ISO ClinVar Annotator: match by OMIM:615709
ClinVar Annotator: match by term: Sacral agenesis with vertebral anomalies
OMIM
ClinVar
PMID:24253444 PMID:25741868 NCBI chr 1:52,298,099...52,309,813
Ensembl chr 1:52,298,099...52,305,864
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          Sacral Agenesis with Vertebral Anomalies 1
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        Congenital Abnormalities 5599
          Musculoskeletal Abnormalities 2240
            Sacral Agenesis with Vertebral Anomalies 1
paths to the root