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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:Schilbach-Rott Syndrome
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Accession:DOID:9000946 term browser browse the term
Synonyms:exact_synonym: SBRS;   blepharofacioskeletal syndrome;   cleft palate, hypotelorism, and hypospadias;   ocular hypotelorism, submucosal cleft palate, and hypospadias
 primary_id: MESH:C563509
 alt_id: MIM:164220



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19072
    physical disorder 5183
      hypospadias 87
        Schilbach-Rott Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19072
    Developmental Disease 14560
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        Congenital Abnormalities 7749
          Musculoskeletal Abnormalities 3418
            Craniofacial Abnormalities 2748
              Maxillofacial Abnormalities 312
                Jaw Abnormalities 266
                  orofacial cleft 157
                    cleft palate 118
                      Schilbach-Rott Syndrome 0
paths to the root