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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:Ophthalmomandibulomelic Dysplasia
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Accession:DOID:9004114 term browser browse the term
Synonyms:exact_synonym: OMM syndrome;   Pillay syndrome
 primary_id: MESH:C563501
 alt_id: OMIM:164900
 xref: ORDO:2741



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    sensory system disease 6587
      eye disease 3363
        Hereditary Eye Diseases 1095
          Ophthalmomandibulomelic Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        Congenital Abnormalities 7448
          Musculoskeletal Abnormalities 3258
            Craniofacial Abnormalities 2636
              Maxillofacial Abnormalities 307
                Jaw Abnormalities 260
                  Ophthalmomandibulomelic Dysplasia 0
paths to the root