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 | ||
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 |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/SNOMEDCT/275416002 | SNOMEDCT | CUI | |
http://purl.bioontology.org/ontology/MESH/C535984 | MESH | CUI | |
http://purl.bioontology.org/ontology/SCTSPA/275416002 | SCTSPA | CUI |