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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:Stickler Syndrome, Type I, Nonsyndromic Ocular
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Accession:DOID:9006763 term browser browse the term
Synonyms:exact_synonym: Stickler Syndrome type I, predominantly ocular;   atypical Stickler Syndrome
 narrow_synonym: DRRD;   rhegmatogenous retinal detachment, autosomal dominant
 primary_id: MESH:C563709
 alt_id: MIM:609508;   RDO:0012898


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      eye disease 3722
        Hereditary Eye Diseases 1130
          Stickler Syndrome, Type I, Nonsyndromic Ocular 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              Hereditary Eye Diseases 1130
                Stickler Syndrome, Type I, Nonsyndromic Ocular 1
paths to the root