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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: MIM:615709;   RDO:9001035


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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 term: Sacral agenesis with vertebral anomalies ClinVar
OMIM		 PMID:24253444 PMID:25741868 NCBI chr 1:52,298,104...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 19087
    Developmental Disease 14584
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13629
        genetic disease 13304
          Sacral Agenesis with Vertebral Anomalies 1
Path 2
Term Annotations click to browse term
  disease 19087
    Developmental Disease 14584
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13629
        Congenital Abnormalities 7761
          Musculoskeletal Abnormalities 3418
            Sacral Agenesis with Vertebral Anomalies 1
paths to the root