Preferred Name |
CONOTRUNCAL HEART MALFORMATIONS |
|
Synonyms |
CAFS |
|
ID |
http://purl.bioontology.org/ontology/OMIM/217095 |
|
altLabel |
CAFS CONOTRUNCAL ANOMALY FACE SYNDROME PERSISTENT TRUNCUS ARTERIOSUS PTA CTHM DORV INTERRUPTED AORTIC ARCH TRUNCUS ARTERIOSUS COMMUNIS DOUBLE-OUTLET RIGHT VENTRICLE |
|
cui |
C0795907 C0041207 C0152419 C0013069 C1857586 |
|
Gene Locus |
8p21 |
|
Gene Symbol |
CTHM CSX2 NKX2-6 |
|
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
notation |
217095 |
|
OMIM Entry Type |
3 |
|
OMIM MimType Value |
pound |
|
prefLabel |
CONOTRUNCAL HEART MALFORMATIONS |
|
tui |
T047 T019 |
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