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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:Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
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Accession:DOID:9006975 term browser browse the term
Synonyms:primary_id: MESH:C563806
 alt_id: MIM:609047


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35758
    Developmental Disease 28592
      bone development disease 3282
        Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 0
Path 2
Term Annotations click to browse term
  disease 35758
    Pathological Conditions, Signs and Symptoms 21555
      Signs and Symptoms 16421
        Neurologic Manifestations 15493
          sensory system disease 9842
            eye disease 4968
              eye degenerative disease 1190
                retinal degeneration 1188
                  fundus dystrophy 1020
                    retinitis pigmentosa 887
                      Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 0
paths to the root