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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:X-linked congenital bilateral absence of vas deferens
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Accession:DOID:0111863 term browser browse the term
Definition:A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13. (DO)
Synonyms:exact_synonym: CBAVDX;   congenital bilateral aplasia of vas deferens, X-linked
 primary_id: MIM:300985


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X-linked congenital bilateral absence of vas deferens term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Vas deferens, congenital bilateral aplasia of, X-linked OMIM
ClinVar		 PMID:25741868 PMID:27476656 NCBI chr  X:14,996,196...15,131,338
Ensembl chr  X:14,994,625...15,131,844 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15728
    physical disorder 5112
      congenital bilateral absence of vas deferens 2
        X-linked congenital bilateral absence of vas deferens 1
Path 2
Term Annotations click to browse term
  disease 15728
    disease of anatomical entity 15372
      Urogenital Diseases 4894
        Female Urogenital Diseases and Pregnancy Complications 2579
          Female Urogenital Diseases 2114
            female reproductive system disease 2111
              infertility 392
                male infertility 318
                  azoospermia 66
                    congenital bilateral absence of vas deferens 2
                      X-linked congenital bilateral absence of vas deferens 1
paths to the root