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 14823
    Developmental Diseases 7637
      bone development disease 891
        dysostosis 233
          acrofacial dysostosis 2
            acrofacial dysostosis Cincinnati type 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    Crouzon syndrome 23
                      Mandibulofacial Dysostosis 17
                        acrofacial dysostosis Cincinnati type 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.