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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:Ausems Wittebol-Post Hennekam Syndrome
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Accession:DOID:9001764 term browser browse the term
Synonyms:exact_synonym: Cleft lip with progressive retinopathy
 primary_id: MESH:C538272


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9334
      Ausems Wittebol-Post Hennekam Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        Congenital Abnormalities 6947
          Musculoskeletal Abnormalities 3092
            Craniofacial Abnormalities 2502
              Maxillofacial Abnormalities 304
                Jaw Abnormalities 256
                  orofacial cleft 148
                    cleft lip 58
                      Ausems Wittebol-Post Hennekam Syndrome 0
paths to the root