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RGD uses the Human Disease Ontology (DO, 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:Sprengel Deformity
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Accession:DOID:9003430 term browser browse the term
Synonyms:exact_synonym: High scapula;   Maladie de Sprengel familiale;   Sprengel's shoulder
 primary_id: MESH:C535802
 alt_id: OMIM:184400
For additional species annotation, visit the Alliance of Genome Resources.

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  disease 17240
    Developmental Disease 10942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9477
        Congenital Abnormalities 5596
          Sprengel Deformity 0
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