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ONTOLOGY REPORT - ANNOTATIONS


Term:Abruzzo-Erickson syndrome
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Accession:DOID:0111826 term browser browse the term
Definition:A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in TBX22 on chromosome Xq21.1. (DO)
Synonyms:exact_synonym: ABERS;   Charge-Like Syndrome, X-Linked;   cleft palate-coloboma-deafness syndrome
 primary_id: MESH:C535559
 alt_id: OMIM:302905
 xref: GARD:360;   ORDO:921
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Abruzzo-Erickson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx22 T-box transcription factor 22 JBrowse link X 78,731,738 78,782,542 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Abruzzo-Erickson syndrome 1
Path 2
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  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          Otorhinolaryngologic Diseases 1119
            auditory system disease 713
              Hearing Disorders 577
                Hearing Loss 573
                  Conductive Hearing Loss 10
                    Abruzzo-Erickson syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.