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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
 alt_id: OMIM:605822
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
OMIM
PMID:16571645 PMID:25741868 PMID:26027496 PMID:28492532 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 18215
    Developmental Disease 13068
      bone development disease 1885
        osteochondrodysplasia 618
          Spondyloocular Syndrome, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        sensory system disease 6435
          eye disease 2961
            retinal disease 879
              retinal detachment 36
                Spondyloocular Syndrome, Autosomal Recessive 1
paths to the root