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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:exact_synonym: spondylo-ocular syndrome
 broad_synonym: XYLT2-RELATED CONDITION
 xref: MESH:C565285;   MIM:605822;   MONDO:0011604


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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: Spondylo-ocular syndrome | ClinVar Annotator: match by term: XYLT2-related condition OMIM
ClinVar		 PMID:16571645 PMID:25741868 PMID:26027496 PMID:26987875 PMID:28492532 More... NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    sensory system disease 7373
      eye disease 3721
        Hereditary Eye Diseases 1130
          Spondyloocular Syndrome, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        Neurologic Manifestations 10445
          sensory system disease 7373
            eye disease 3721
              retinal disease 1458
                retinal detachment 36
                  Spondyloocular Syndrome, Autosomal Recessive 1
paths to the root