autosomal recessive congenital bilateral absence of vas deferens

Summary
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.
Super Class
autosomal recessive disease congenital bilateral absence of vas deferens
Disease Ontology
DOID:0111864
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1080 CFTR CF transmembrane conductance regulator
Displaying 1 entry
Gene ID Gene Symbol Description Source
12638 Cftr cystic fibrosis transmembrane conductance regulator
Displaying 1 entry
Gene ID Gene Symbol Description Source
24255 Cftr CF transmembrane conductance regulator
Displaying 1 entry
Gene ID Gene Symbol Description Source
559080 cftr CF transmembrane conductance regulator
Displaying 1 entry
Gene ID Gene Symbol Description Source
853978 NFT1 putative multidrug transporter NFT1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024