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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 41189
    disease of anatomical entity 32348
      musculoskeletal system disease 11647
        arthropathy 1535
          Leri Pleonosteosis 0
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36466
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33608
        Congenital Abnormalities 14121
          Musculoskeletal Abnormalities 5237
            Congenital Limb Deformities 1411
              Congenital Upper Extremity Deformities 364
                Congenital Hand Deformities 236
                  Leri Pleonosteosis 0
paths to the root