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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:Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
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Accession:DOID:9003005 term browser browse the term
Synonyms:exact_synonym: camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
 primary_id: MESH:C537974
 alt_id: MIM:211930



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      bone development disease 2373
        Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Musculoskeletal Abnormalities 3440
            Congenital Limb Deformities 1063
              Congenital Upper Extremity Deformities 231
                Congenital Hand Deformities 202
                  Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
paths to the root