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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:tethered spinal cord syndrome
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Accession:DOID:1089 term browser browse the term
Synonyms:exact_synonym: occult spinal dysraphism;   occult spinal dysraphism sequence;   occult spinal dysraphisms;   tethered cord syndrome;   tethered cord syndromes
 xref: GARD:4018;   NCI:C99080
For additional species annotation, visit the Alliance of Genome Resources.



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tethered spinal cord syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Occult spinal dysraphism sequence ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      tethered spinal cord syndrome 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        Congenital Abnormalities 6747
          Nervous System Malformations 2051
            neural tube defect 128
              spina bifida 41
                spina bifida occulta 1
                  tethered spinal cord syndrome 1
paths to the root