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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:Posterior Lumbosacral Vertebral Fusion with Blepharoptosis
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Accession:DOID:9006015 term browser browse the term
Synonyms:exact_synonym: Congenital ptosis and posterior fusion of lumbosacral vertebrae;   Familial posterior lumbosacral vertebral fusion and eyelid ptosis;   Posterior Lumbosacral Vertebral Fusion, Blepharoptosis
 primary_id: MESH:C536344
 alt_id: MIM:192800


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        Congenital Abnormalities 7885
          Posterior Lumbosacral Vertebral Fusion with Blepharoptosis 0
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            skin disease 4320
              eyelid disease 116
                ptosis 41
                  Posterior Lumbosacral Vertebral Fusion with Blepharoptosis 0
paths to the root