loading...| Preferred Name | Lafora Disease | |
| Synonyms |
Progressive Myoclonic Epilepsy Type 2 Lafora-Body Disease, Late Onset Lafora Body Disorder Epilepsy, Progressive Myoclonic, Lafora Progressive Myoclonic Epilepsy, Lafora Progressive Myoclonic Epilepsy, Lafora Type Lafora Body Disease Myoclonic Epilepsy of Lafora Epilepsy Progressive Myoclonic 2 Late Onset Lafora Body Disease Lafora Progressive Myoclonus Epilepsy Progressive Myoclonus Epilepsy, Lafora Type Lafora Type Progressive Myoclonic Epilepsy Lafora Body Disease, Late Onset Epilepsy, Progressive Myoclonic 2A Lafora Myoclonic Epilepsy Lafora Progressive Myoclonic Epilepsy |
|
| Definitions |
A form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D020192 |
|
| altLabel |
Progressive Myoclonic Epilepsy Type 2 Lafora-Body Disease, Late Onset Lafora Body Disorder Epilepsy, Progressive Myoclonic, Lafora Progressive Myoclonic Epilepsy, Lafora Progressive Myoclonic Epilepsy, Lafora Type Lafora Body Disease Myoclonic Epilepsy of Lafora Epilepsy Progressive Myoclonic 2 Late Onset Lafora Body Disease Lafora Progressive Myoclonus Epilepsy Progressive Myoclonus Epilepsy, Lafora Type Lafora Type Progressive Myoclonic Epilepsy Lafora Body Disease, Late Onset Epilepsy, Progressive Myoclonic 2A Lafora Myoclonic Epilepsy Lafora Progressive Myoclonic Epilepsy |
|
| AQL |
BL CF CI CL CN 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 |
C0751783 C0751784 |
|
| DC |
1 |
|
| definition |
A form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110). |
|
| DX |
20000101 |
|
| HN |
2000; 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/Q000151 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 |
|
| Machine permutation |
2000; see Epilepsy, Myoclonic 1977-1999 |
|
| MDA |
19991103 |
|
| MMR |
20170224 |
|
| MN |
C10.228.140.490.375.130.650.500 C10.228.140.490.493.063.650.500 C16.320.400.480 C10.574.500.529 |
|
| notation |
D020192 |
|
| prefLabel |
Lafora Disease |
|
| TERMUI |
T764287 T845653 T368856 T764288 T368854 T841858 T368858 T368855 T841859 T014727 T841860 T764289 T368857 T368859 T368853 T368860 T368861 |
|
| TH |
OMIM (2013) NLM (2000) UNK (19XX) GHR (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |