Metadata | |
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ID | DOID:0111864 |
Name | autosomal recessive congenital bilateral absence of vas deferens |
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. https://pubmed.ncbi.nlm.nih.gov/7529962/ |
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Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |