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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: OMIM:151200



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7805
        arthropathy 1272
          Leri Pleonosteosis 0
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        Congenital Abnormalities 7500
          Musculoskeletal Abnormalities 3271
            Congenital Limb Deformities 1028
              Congenital Upper Extremity Deformities 214
                Congenital Hand Deformities 188
                  Leri Pleonosteosis 0
paths to the root