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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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Abruzzo-Erickson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by OMIM:302905 OMIM
ClinVar
PMID:839509 PMID:22784330 NCBI chr  X:78,731,738...78,782,542
Ensembl chr  X:78,769,419...78,782,542
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      Abruzzo-Erickson syndrome 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          Otorhinolaryngologic Diseases 1270
            auditory system disease 850
              Hearing Disorders 710
                Hearing Loss 706
                  Conductive Hearing Loss 10
                    Abruzzo-Erickson syndrome 1
paths to the root