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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:26987875, PMID:28884924, PMID:29136277, 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 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Spondyloocular Syndrome, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            retinal disease 777
              retinal detachment 41
                Spondyloocular Syndrome, Autosomal Recessive 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.