DiseaseID 26158
Andersen心脏节律障碍性周期性麻痹
Andersen Cardiodysrhythmic Periodic Paralysis
NCI2016_02D:A form of long QT syndrome characterized by ventricular arrhythmia, muscle weakness, and developmental abnormalities which include micrognathia, low-set ears and deformities of the fingers.|MSH2017_2016_08_12
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Disease: 1Symptom: 8Target: 19Links: 32
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26158
- Core Entity Id
- 118726
- Source Entity Count
- 1
- Preferred Name
- Andersen Cardiodysrhythmic Periodic Paralysis
- Name Cn
- Andersen心脏节律障碍性周期性麻痹
- Name Pinyin
- Andersen Xin Zang Jie Lv Zhang Ai Xing Zhou Qi Xing Ma Bi
- Name En
- Andersen Cardiodysrhythmic Periodic Paralysis
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A form of long QT syndrome characterized by ventricular arrhythmia, muscle weakness, and developmental abnormalities which include micrognathia, low-set ears and deformities of the fingers.|MSH2017_2016_08_12:A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Andersen Cardiodysrhythmic Periodic Paralysis
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1563715
Sym Map
SMDE02196
Etcm Disease
Andersen Cardiodysrhythmic Periodic Paralysis
Itcmdb Generated
ITX-DISEASE-3EF1E006CC18
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Andersen Cardiodysrhythmic Periodic Paralysis Details page
Basic Information
Disease Name
Andersen Cardiodysrhythmic Periodic Paralysis
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A form of long QT syndrome characterized by ventricular arrhythmia, muscle weakness, and developmental abnormalities which include micrognathia, low-set ears and deformities of the fingers.|MSH2017_2016_08_12:A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.