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ONTOLOGY REPORT - ANNOTATIONS


Term:acrofacial dysostosis Cincinnati type
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Accession:DOID:0060353 term browser browse the term
Definition:A ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects. (OMIM)
Synonyms:exact_synonym: AFDCIN;   Cincinnati type of acrofacial dysostosis
 primary_id: OMIM:616462
 alt_id: RDO:9001330
For additional species annotation, visit the Alliance of Genome Resources.


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acrofacial dysostosis Cincinnati type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1a RNA polymerase I subunit A JBrowse link 4 99,822,964 99,903,969 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      bone development disease 994
        dysostosis 303
          acrofacial dysostosis 2
            acrofacial dysostosis Cincinnati type 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Skin and Connective Tissue Diseases 4223
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              dysostosis 303
                synostosis 202
                  craniosynostosis 166
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        acrofacial dysostosis Cincinnati type 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.