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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;   TSHZ1-RELATED CONDITION;   congenital aural atresia with hyposmia
 xref: MESH:C564321;   MIM:607842;   MONDO:0011921


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Congenital Aural Atresia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: AURAL ATRESIA, CONGENITAL, WITH HYPOSMIA ClinVar PMID:9150725 PMID:25741868 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aural atresia, congenital | ClinVar Annotator: match by term: TSHZ1-related condition		 OMIM
CTD
ClinVar		 PMID:22152683 PMID:24487590 PMID:25741868 PMID:28492532 NCBI chr18:77,376,399...77,452,815
Ensembl chr18:77,377,394...77,453,509 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        Congenital Abnormalities 7885
          Congenital Aural Atresia 2
paths to the root