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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:Spondyloocular Syndrome, Autosomal Recessive
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Accession:DOID:9005347 term browser browse the term
Synonyms:primary_id: MESH:C565285;   RDO:0013966
For additional species annotation, visit the Alliance of Genome Resources.



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Spondyloocular Syndrome, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Spondyloocular syndrome, autosomal recessive ClinVar PMID:16571645 PMID:25741868 PMID:26027496 PMID:30496831 NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      bone development disease 1424
        osteochondrodysplasia 481
          Spondyloocular Syndrome, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        sensory system disease 5712
          eye disease 2800
            retinal disease 841
              retinal detachment 35
                Spondyloocular Syndrome, Autosomal Recessive 1
paths to the root