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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:Testicular Anomalies with or without Congenital Heart Disease
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Accession:DOID:9006760 term browser browse the term
Synonyms:exact_synonym: TACHD
 primary_id: OMIM:615542;   RDO:9000988
For additional species annotation, visit the Alliance of Genome Resources.


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Testicular Anomalies with or without Congenital Heart Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by OMIM:615542 OMIM
ClinVar
PMID:21220346 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    physical disorder 2459
      congenital heart disease 1057
        Testicular Anomalies with or without Congenital Heart Disease 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        Congenital Abnormalities 4716
          Urogenital Abnormalities 256
            disorder of sexual development 151
              cryptorchidism 53
                Testicular Anomalies with or without Congenital Heart Disease 1
paths to the root