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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 the TBX22 gene 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 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:63,837,576...63,845,704
Ensembl chr  X:63,837,284...63,846,483 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9899
      Abruzzo-Erickson syndrome 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9422
          sensory system disease 6515
            Otorhinolaryngologic Diseases 1660
              auditory system disease 942
                Hearing Disorders 770
                  Hearing Loss 765
                    Conductive Hearing Loss 10
                      Abruzzo-Erickson syndrome 1
paths to the root