ONTOLOGY REPORT - ANNOTATIONS


Term:mandibulofacial dysostosis with alopecia
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Accession:DOID:0060365 term browser browse the term
Definition:A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. (DO)
Synonyms:exact_synonym: MFDA
 primary_id: OMIM:616367
 alt_id: RDO:9001644
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mandibulofacial dysostosis with alopecia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDNRA endothelin receptor type A JBrowse link 15 45,823,472 45,878,527 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 11347
    syndrome 4233
      mandibulofacial dysostosis with alopecia 1
Path 2
Term Annotations click to browse term
  disease 11347
    disease of anatomical entity 10851
      Skin and Connective Tissue Diseases 3326
        connective tissue disease 2145
          bone disease 1706
            bone development disease 875
              dysostosis 231
                synostosis 146
                  craniosynostosis 111
                    Crouzon syndrome 23
                      Mandibulofacial Dysostosis 17
                        mandibulofacial dysostosis with alopecia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.