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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 chrNW_004955586:359,573...477,277
Ensembl chrNW_004955586:359,567...479,325 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14320
    physical disorder 4821
      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 14320
    disease of anatomical entity 14026
      Urogenital Diseases 4543
        Female Urogenital Diseases and Pregnancy Complications 2392
          Female Urogenital Diseases 1989
            female reproductive system disease 1986
              infertility 370
                male infertility 302
                  azoospermia 65
                    congenital bilateral absence of vas deferens 2
                      X-linked congenital bilateral absence of vas deferens 1
paths to the root