Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF

Synonyms

VAS DEFERENS, CONGENITAL UNILATERAL APLASIA OF

ID

http://purl.bioontology.org/ontology/OMIM/277180

altLabel

VAS DEFERENS, CONGENITAL UNILATERAL APLASIA OF

CBAVD

CAVD

CUAVD

cui

C0403814

C5393224

Gene Locus

7q31.2

Gene Symbol

CF

MRP7

CFTR

ABCC7

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU008863

http://purl.bioontology.org/ontology/OMIM/MTHU037275

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

277180

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF

Scope Statement

Caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR, 602421.0005) [MOLECULAR BASIS]

Genetic heterogeneity [MISCELLANEOUS]

tui

T019

Delete Subject Author Type Created
No notes to display