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MIRAGE
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
External Links
- Disease Ontology
- DOID:0111864
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P13569 | Cystic fibrosis transmembrane conductance regulator |
