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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:Hypotonia, Seizures, and Precocious Puberty
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Accession:DOID:9005769 term browser browse the term
Synonyms:primary_id: MESH:C567566
 alt_id: OMIM:612777


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          visual epilepsy 320
            Hypotonia, Seizures, and Precocious Puberty 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            eye disease 3213
              visual pathway disease 323
                visual cortex disease 320
                  visual epilepsy 320
                    Hypotonia, Seizures, and Precocious Puberty 0
paths to the root