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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 term: Abruzzo-Erickson syndrome OMIM
ClinVar
PMID:839509 PMID:22784330 PMID:25741868 NCBI chr  X:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    syndrome 10787
      Abruzzo-Erickson syndrome 1
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      nervous system disease 14106
        Neurologic Manifestations 10111
          sensory system disease 7131
            Otorhinolaryngologic Diseases 1855
              auditory system disease 1120
                Hearing Disorders 860
                  Hearing Loss 856
                    Conductive Hearing Loss 10
                      Abruzzo-Erickson syndrome 1
paths to the root