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.
A disease found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD, mutations are identified in the CFTR gene. The forms caused by mutations in the CFTR and ADGRG2 (X-linked) genes are clinically indistinguishable.
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