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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:Sandhaus Ben-Ami Syndrome
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Accession:DOID:9002561 term browser browse the term
Synonyms:exact_synonym: Patella hypoplasia skeletal malformations
 primary_id: MESH:C537233


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Sandhaus Ben-Ami Syndrome 0
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        Congenital Abnormalities 14120
          Musculoskeletal Abnormalities 5236
            Congenital Limb Deformities 1411
              Lower Extremity Deformities, Congenital 228
                Congenital Foot Deformities 219
                  Sandhaus Ben-Ami Syndrome 0
paths to the root