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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 chr10:82,386,003...82,399,485
Ensembl chr10:82,386,005...82,399,485
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      bone development disease 1344
        osteochondrodysplasia 449
          Spondyloocular Syndrome, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          eye disease 2714
            retinal disease 786
              retinal detachment 39
                Spondyloocular Syndrome, Autosomal Recessive 1
paths to the root