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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:Hay Wells Syndrome Recessive Type
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Accession:DOID:9007833 term browser browse the term
Synonyms:exact_synonym: Ankyloblepharon, ectodermal defects, and cleft lip and palate and congenital adhesions between the upper and lower jaws (alveolar synechiae)
 primary_id: MESH:C535846;   RDO:0001181


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      ectodermal dysplasia 542
        Hay Wells Syndrome Recessive Type 0
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        Congenital Abnormalities 7578
          Musculoskeletal Abnormalities 3302
            Craniofacial Abnormalities 2657
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  orofacial cleft 155
                    cleft lip 59
                      Hay Wells Syndrome Recessive Type 0
paths to the root