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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
 alt_id: MIM:218090


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      Crane-Heise Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        Congenital Abnormalities 7883
          Musculoskeletal Abnormalities 3456
            Congenital Limb Deformities 1071
              Lower Extremity Deformities, Congenital 200
                Congenital Foot Deformities 192
                  Talipes 50
                    clubfoot 37
                      Crane-Heise Syndrome 0
paths to the root