DiseaseID 845
耶韦尔和朗格-尼尔森综合征
disease
NCI2016_02D:An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.|MSH2017_2016_08_12:
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Disease: 1Herb: 2Symptom: 2Target: 21Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 845
- Core Entity Id
- 949
- Source Entity Count
- 1
- Preferred Name
- Jervell-Lange Nielsen Syndrome
- Name Cn
- 耶韦尔和朗格-尼尔森综合征
- Name Pinyin
- Ye Wei Er He Lang Ge - Ni Er Sen Zong He Zheng
- Name En
- Jervell and Lange-Nielsen Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- disease of anatomical entity
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entity
- Disease Definition
- NCI2016_02D:An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.|MSH2017_2016_08_12: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).
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Jervell-Lange Nielsen Syndrome
Role
preferred
Name
Jervell And Lange-Nielsen Syndrome 1
Role
preferred
Name
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
Role
preferred
Name
CARDIOAUDITORY SYNDROME OF JERVELL AND LANGE-NIELSEN
Role
alias
Name
DEAFNESS, CONGENITAL, AND FUNCTIONAL HEART DISEASE
Role
alias
Name
JLNS1
Role
alias
Name
Jervell And Lange-Nielsen Syndrome 2
Role
alias
Name
Jlns2
Role
alias
Name
PROLONGED QT INTERVAL IN EKG AND SUDDEN DEATH
Role
alias
Name
SURDO-CARDIAC SYNDROME
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001589HBDIS019454HBDIS027213
Me Sh
D029593
Omim
220400612347
Umls
C0022387
Sym Map
SMDE01022
Do Class
DOID:7
Dis Ge Net
C0022387C2676723C4551509
Umls Sty
T047
Me Sh Class
C14C16
Etcm Disease
Jervell and Lange-Nielsen Syndrome 1
Tcmbank Disease
14813273293177
Itcmdb Generated
ITX-DISEASE-42DAFEE1552EITX-DISEASE-5926A5E3275A
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Jervell and Lange-Nielsen Syndrome 1 Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Jervell and Lange-Nielsen Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Ear diseases
Disease Definition
NCI2016_02D:An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.|MSH2017_2016_08_12: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).
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Umls Semantic Type Name
Disease or Syndrome