Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:autosomal recessive congenital bilateral absence of vas deferens
go back to main search page
Accession:DOID:0111864 term browser browse the term
Definition:A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in CFTR on chromosome 7q31.2. (DO)
Synonyms:exact_synonym: congenital bilateral aplasia of vas deferens from CFTR mutation
 primary_id: OMIM:277180
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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:1283149 PMID:1284466 PMID:1284534 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital bilateral absence of vas deferens 4
        autosomal recessive congenital bilateral absence of vas deferens 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        Female Urogenital Diseases and Pregnancy Complications 2213
          Female Urogenital Diseases 1836
            female reproductive system disease 1832
              infertility 323
                male infertility 240
                  azoospermia 71
                    congenital bilateral absence of vas deferens 4
                      autosomal recessive congenital bilateral absence of vas deferens 2
paths to the root