Disorder "Congenital Bilateral Absence Of Vas Deferens"
Found 1 record
Disorder information
Disorder name:
Congenital Bilateral Absence Of Vas Deferens 
Disoder ID:
OMIM entry:
Synonyms:
Congenital bilateral agenesis of vas deferens, Congenital bilateral aplasia of vas deferens 
Definition:
Congenital absence of the vas deferens (CAVD) is a condition in which the vasa deferentia reproductive organs, fail to form properly prior to birth. It may either be unilateral (CUAVD) or bilateral (CBAVD). 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
EDNRA EDNRA:c.*70G>C Penetrance  Altered incidence  Assessment of genotype–phenotype associations  Polymorphism rs 5335 may be associated with congenital bilateral absencemore more
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