Andersen Syndrome
Disease ID: disease_node_11420
Connections displayed (default: 10).
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| Dbxref | GARD:9453, MESH:D050030, MIM:170390, NCI:C84559, ORDO:37553, SNOMEDCT_US_2023_03_01:422348008, UMLS_CUI:C1563715 |
|---|---|
| Subclassof | DOID_0050736, DOID_2843 |
| Data Source | DOID, MESH |
| Synonyms | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS, Andersen syndrome, LQT7, Long QT syndrome 7, Potassium-Sensitive Cardiodysrhythmic Type |
| Mesh Id | D050030 |
| Mesh Label | Andersen Syndrome |
| Mesh Subclassof | D008133 |
| Doid Label | Andersen-Tawil syndrome |
| Doid Description | A long QT syndrome that has_material_basis_in autosomal domit inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000287 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_11420 |
| Doid Id | DOID_0050434 |
| Label | Andersen Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Arrhythmia(ID:disease_node_21133) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Long Qt Syndrome(ID:disease_node_4835) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)