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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:Naguib-Richieri-Costa Syndrome
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Accession:DOID:9007593 term browser browse the term
Synonyms:exact_synonym: Acrofrontofacionasal Dysostosis with Genitourinary Anomalies;   Acrofrontofacionasal dysostosis, severe;   Hypertelorism, Hypospadias, and Polysyndactyly Syndrome;   Naguib syndrome;   acrofrontofacionasal dysostosis 2;   hypertelorism hypospadias polysyndactyly syndrome
 primary_id: MESH:C538332
 alt_id: OMIM:239710;   RDO:0004296


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      Naguib-Richieri-Costa Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Skin and Connective Tissue Diseases 6860
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2300
              dysostosis 583
                synostosis 377
                  syndactyly 149
                    Naguib-Richieri-Costa Syndrome 0
paths to the root