loading...| Preferred Name |
Jervell-Lange Nielsen Syndrome |
|
| Synonyms |
Cardioauditory Syndrome of Jervell and Lange-Nielsen |
|
| Definitions |
A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D029593 |
|
| altLabel |
Cardioauditory Syndrome of Jervell and Lange-Nielsen Jervell and Lange Nielsen Syndrome Prolonged QT Interval in EKG and Sudden Death Syndrome, Cardio-Auditory-Syncope Cardio-Auditory-Syncope Syndrome Jervell and Lange-Nielsen Syndrome Surdo-Cardiac Syndrome Jervell And Lange-Nielsen Syndrome 1 Deafness, Congenital, and Functional Heart Disease Cardio Auditory Syncope Syndrome Syndromes, Cardio-Auditory-Syncope Syndrome, Jervell-Lange Nielsen Jervell Lange Nielsen Syndrome Surdo Cardiac Syndrome Jervell And Lange Nielsen Syndrome 1 Surdo-Cardiac Syndromes Cardioauditory Syndrome of Jervell and Lange Nielsen Syndrome, Surdo-Cardiac Cardio-Auditory-Syncope Syndromes |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C4551509 C0022387 |
|
| DC |
1 |
|
| definition |
A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). |
|
| DX |
20020101 |
|
| FX |
D051657 |
|
| HN |
2002; use LONG QT SYNDROME 1986-2001 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2002; see LONG QT SYNDROME 1986-2001 |
|
| Mapped from | ||
| MDA |
20010725 |
|
| MMR |
20190705 |
|
| MN |
C16.131.240.400.715.440 C14.280.123.625.440 C14.280.067.565.440 |
|
| notation |
D029593 |
|
| prefLabel |
Jervell-Lange Nielsen Syndrome |
|
| TERMUI |
T841784 T781495 T024260 T753343 T781496 T811667 T753342 T444026 |
|
| TH |
OMIM (2013) NLM (2002) NLM (2012) UNK (19XX) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |