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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:autosomal recessive congenital bilateral absence of vas deferens
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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 the CFTR gene on chromosome 7q31.2. (DO)
Synonyms:exact_synonym: congenital bilateral aplasia of vas deferens from CFTR mutation
 primary_id: MIM:277180

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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:17,428,416...17,573,497
Ensembl chr  X:17,427,532...17,468,812 		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:1282016 PMID:1283148 PMID:1283149 PMID:1284466 More... NCBI chr21:86,154,313...86,332,436 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15392
    physical disorder 5047
      congenital bilateral absence of vas deferens 2
        autosomal recessive congenital bilateral absence of vas deferens 2
Path 2
Term Annotations click to browse term
  disease 15392
    disease of anatomical entity 15077
      Urogenital Diseases 4806
        Female Urogenital Diseases and Pregnancy Complications 2514
          Female Urogenital Diseases 2084
            female reproductive system disease 2081
              infertility 384
                male infertility 309
                  azoospermia 65
                    congenital bilateral absence of vas deferens 2
                      autosomal recessive congenital bilateral absence of vas deferens 2
paths to the root