autosomal recessive congenital bilateral absence of vas deferens

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Summary

Literature (0)

DOID:0111864 - autosomal recessive congenital bilateral absence of vas deferens

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cftr

MIM:

MIM:277180 - VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD

MIM:277180 - VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital bilateral absence of vas deferens (is_a)