Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:Abruzzo-Erickson syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Abruzzo-Erickson syndrome 1
Path 2
Term Annotations click to browse term
  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
paths to the root


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