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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:Cardiocranial Syndrome
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Accession:DOID:9005551 term browser browse the term
Synonyms:exact_synonym: Pfeiffer Singer Zschiesche syndrome;   Pfeiffer cardiocranial syndrome;   Pfeiffer syndrome 2;   Pfeiffer-type cardiocranial syndrome;   sagittal craniostenosis with congenital heart disease, mental deficiency, and mandibular ankylosis
 primary_id: MESH:C535578
 alt_id: OMIM:218450



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Cardiocranial Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              dysostosis 576
                synostosis 375
                  craniosynostosis 315
                    acrocephalosyndactylia 88
                      Cardiocranial Syndrome 0
paths to the root