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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:Leri Pleonosteosis
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Accession:DOID:9005033 term browser browse the term
Synonyms:exact_synonym: CHROMOSOME 8q22.1 DUPLICATION SYNDROME;   Leri pleonosteosis chromosome duplication syndrome;   Leri type pleonosteosis;   Leri's pleonosteosis
 primary_id: MESH:C537118
 alt_id: MIM:151200



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      musculoskeletal system disease 8477
        arthropathy 1530
          Leri Pleonosteosis 0
Path 2
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13535
        Congenital Abnormalities 7762
          Musculoskeletal Abnormalities 3419
            Congenital Limb Deformities 1060
              Congenital Upper Extremity Deformities 229
                Congenital Hand Deformities 200
                  Leri Pleonosteosis 0
paths to the root