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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
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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 16017
    Developmental Diseases 9307
      bone development disease 1259
        dysostosis 318
          acrofacial dysostosis 4
            acrofacial dysostosis Cincinnati type 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      Skin and Connective Tissue Diseases 5365
        connective tissue disease 4002
          bone disease 3466
            bone development disease 1259
              dysostosis 318
                synostosis 210
                  craniosynostosis 170
                    Crouzon syndrome 22
                      Mandibulofacial Dysostosis 16
                        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.