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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:Spondylocamptodactyly
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Accession:DOID:9003265 term browser browse the term
Synonyms:exact_synonym: Camptodactyly with cervical platyspondyly;   Spondylo camptodactyly syndrome
 primary_id: MESH:C535779
 alt_id: OMIM:600000



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        Hand Deformities 188
          Congenital Hand Deformities 185
            Spondylocamptodactyly 0
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Musculoskeletal Abnormalities 3288
            Congenital Limb Deformities 1021
              Congenital Upper Extremity Deformities 214
                Congenital Hand Deformities 185
                  Spondylocamptodactyly 0
paths to the root