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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:Congenital Aural Atresia
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Accession:DOID:9004309 term browser browse the term
Synonyms:exact_synonym: CAA;   congenital aural atresia with hyposmia
 primary_id: MESH:C564321
 alt_id: OMIM:607842
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Aural Atresia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by OMIM:607842
ClinVar Annotator: match by term: Aural atresia, congenital
OMIM
ClinVar
PMID:22152683 PMID:24487590 PMID:25741868 NCBI chr18:80,860,995...80,907,744
Ensembl chr18:80,862,372...80,865,584
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Congenital Aural Atresia 1
paths to the root