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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


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Tel Hashomer Camptodactyly Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        Congenital Abnormalities 7452
          Musculoskeletal Abnormalities 3260
            Congenital Limb Deformities 1017
              Congenital Upper Extremity Deformities 215
                Congenital Hand Deformities 187
                  Tel Hashomer Camptodactyly Syndrome 0
paths to the root