loading...| Preferred Name |
JERVELL AND LANGE-NIELSEN SYNDROME 1 |
|
| Synonyms |
SURDO-CARDIAC SYNDROME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/220400 |
|
| altLabel |
SURDO-CARDIAC SYNDROME DEAFNESS, CONGENITAL, AND FUNCTIONAL HEART DISEASE PROLONGED QT INTERVAL IN EKG AND SUDDEN DEATH JLNS1 CARDIOAUDITORY SYNDROME OF JERVELL AND LANGE-NIELSEN |
|
| cui |
C4551509 C0022387 |
|
| Gene Locus |
11p15.5 |
|
| Gene Symbol |
ATFB3 SQT2 KCNQ1 KCNA9 KVLQT1 LQT1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU013509 http://purl.bioontology.org/ontology/OMIM/MTHU005012 http://purl.bioontology.org/ontology/OMIM/MTHU013508 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
220400 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
JERVELL AND LANGE-NIELSEN SYNDROME 1 |
|
| Scope Statement |
Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1, 607542.0013) [MOLECULAR BASIS] Genetic heterogeneity [MISCELLANEOUS] |
|
| tui |
T047 |