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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:Crane-Heise Syndrome
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Accession:DOID:9007800 term browser browse the term
Synonyms:exact_synonym: Cleft lip-palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus
 primary_id: MESH:C536452;   RDO:0002046
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 17251
    syndrome 8148
      Crane-Heise Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        Congenital Abnormalities 5594
          Musculoskeletal Abnormalities 2240
            Congenital Limb Deformities 458
              Lower Extremity Deformities, Congenital 77
                Congenital Foot Deformities 68
                  Talipes 39
                    clubfoot 32
                      Crane-Heise Syndrome 0
paths to the root