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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:Tel Hashomer Camptodactyly Syndrome
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Accession:DOID:9005543 term browser browse the term
Synonyms:exact_synonym: camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
 primary_id: MESH:C536953
 alt_id: OMIM:211960
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      Tel Hashomer Camptodactyly Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        Congenital Abnormalities 6706
          Musculoskeletal Abnormalities 2718
            Congenital Limb Deformities 603
              Congenital Upper Extremity Deformities 124
                Congenital Hand Deformities 96
                  Tel Hashomer Camptodactyly Syndrome 0
paths to the root