loading...| Preferred Name | Unverricht-Lundborg Syndrome | |
| Synonyms |
Disease, Unverricht-Lundborg Epilepsy, Progressive Myoclonic Type 1 Progressive Myoclonus Epilepsy 1 Myoclonus, Baltic Epilepsies, Baltic Myoclonic Epilepsy, Baltic Myoclonic Syndrome, Unverricht-Lundborg Myoclonic Epilepsy, Baltic Myoclonus Epilepsies, Baltic Myoclonus Epilepsy, Baltic Myoclonic Epilepsy, Mediterranean Unverricht Disease Myoclonic Epilepsies, Baltic Unverricht-Lundborg Disease Epilepsy, Mediterranean Myoclonic Unverricht Lundborg Disease Lundborg Unverricht Syndrome Progressive Myoclonus Epilepsybaltic Myoclonic Epilepsy Unverricht Diseases Epilepsy, Progressive Myoclonic 1 Baltic Myoclonic Epilepsy Baltic Myoclonus Diseases, Unverricht Mediterranean Myoclonic Epilepsy Myoclonus Progressive Epilepsy of Unverricht and Lundborg Epilepsy, Baltic Myoclonus Epilepsy, Progressive Myoclonic 1a Baltic Myoclonus Epilepsy Unverricht Lundborg Syndrome Myoclonic Epilepsy of Unverricht and Lundborg Baltic Myoclonus Epilepsies Epilepsy, Progressive Myoclonus 1 Syndrome, Lundborg-Unverricht Lundborg-Unverricht Syndrome Diseases, Unverricht-Lundborg Baltic Myoclonic Epilepsies Epilepsies, Baltic Myoclonus Unverricht-Lundborg Diseases Disease, Unverricht |
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| Definitions |
An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, DYSARTHRIA, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D020194 |
|
| altLabel |
Disease, Unverricht-Lundborg Epilepsy, Progressive Myoclonic Type 1 Progressive Myoclonus Epilepsy 1 Myoclonus, Baltic Epilepsies, Baltic Myoclonic Epilepsy, Baltic Myoclonic Syndrome, Unverricht-Lundborg Myoclonic Epilepsy, Baltic Myoclonus Epilepsies, Baltic Myoclonus Epilepsy, Baltic Myoclonic Epilepsy, Mediterranean Unverricht Disease Myoclonic Epilepsies, Baltic Unverricht-Lundborg Disease Epilepsy, Mediterranean Myoclonic Unverricht Lundborg Disease Lundborg Unverricht Syndrome Progressive Myoclonus Epilepsybaltic Myoclonic Epilepsy Unverricht Diseases Epilepsy, Progressive Myoclonic 1 Baltic Myoclonic Epilepsy Baltic Myoclonus Diseases, Unverricht Mediterranean Myoclonic Epilepsy Myoclonus Progressive Epilepsy of Unverricht and Lundborg Epilepsy, Baltic Myoclonus Epilepsy, Progressive Myoclonic 1a Baltic Myoclonus Epilepsy Unverricht Lundborg Syndrome Myoclonic Epilepsy of Unverricht and Lundborg Baltic Myoclonus Epilepsies Epilepsy, Progressive Myoclonus 1 Syndrome, Lundborg-Unverricht Lundborg-Unverricht Syndrome Diseases, Unverricht-Lundborg Baltic Myoclonic Epilepsies Epilepsies, Baltic Myoclonus Unverricht-Lundborg Diseases Disease, Unverricht |
|
| 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 |
C0751785 |
|
| DC |
1 |
|
| definition |
An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, DYSARTHRIA, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110) |
|
| DX |
20000101 |
|
| FX |
D055313 |
|
| HN |
2000; for LUNDBORG-UNVERRICHT SYNDROME use EPILEPSY, MYOCLONIC 1977-1999 |
|
| 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 |
2000; for LUNDBORG-UNVERRICHT SYNDROME see EPILEPSY, MYOCLONIC 1977-1999 |
|
| MDA |
19991103 |
|
| MMR |
20170224 |
|
| MN |
C10.228.140.490.375.130.650.900 C10.228.140.490.493.063.650.900 C16.320.400.940 C10.574.500.875 |
|
| notation |
D020194 |
|
| prefLabel |
Unverricht-Lundborg Syndrome |
|
| TERMUI |
T781555 T014728 T370869 T358656 T781553 T812465 T370868 T812463 T781557 T812464 T370867 T781554 T842638 T370870 T781556 T842636 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2012) UNK (19XX) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |