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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 bilateral absence of vas deferens
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Accession:DOID:0111862 term browser browse the term
Definition:An azoospermia characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility. (DO)
Synonyms:exact_synonym: CAVD;   CBAVD;   Congenital Aplasia of Vas Deferens;   absence of vas deferens;   absent vasa;   congenital absence of vas deferens;   congenital bilateral absence of the vas deferens;   congenital bilateral agenesis of vas deferens;   congenital bilateral aplasia of the vas deferens;   congenital bilateral aplasia of vas deferens
 primary_id: MESH:C535984
 xref: NCI:C129303;   ORDO:48
For additional species annotation, visit the Alliance of Genome Resources.


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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 CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO
IMP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital bilateral absence of the vas deferens
DNA:deletion, nonsense mutations, missense mutations: :multiple
DNA:deletion, missense mutations: :multiple
associated with Cystic Fibrosis		 CTD
ClinVar
RGD		 PMID:7539342 PMID:8530001 PMID:8662892 PMID:9239681 PMID:9598638 More... RGD:11566027, RGD:11566040, RGD:11566051 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Cftrem1Sage cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage IMP RGD PMID:24608905 RGD:11566051
autosomal recessive 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: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868 PMID:27476656 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation OMIM
ClinVar		 PMID:754013 PMID:1283148 PMID:1284466 PMID:1284534 PMID:1284538 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
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:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital bilateral absence of vas deferens 4
        X-linked congenital bilateral absence of vas deferens 1
        autosomal recessive congenital bilateral absence of vas deferens 2
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Urogenital Diseases 4703
        Female Urogenital Diseases and Pregnancy Complications 2219
          Female Urogenital Diseases 1837
            female reproductive system disease 1833
              infertility 323
                male infertility 240
                  azoospermia 71
                    congenital bilateral absence of vas deferens 4
                      X-linked congenital bilateral absence of vas deferens 1
                      autosomal recessive congenital bilateral absence of vas deferens 2
paths to the root