loading...| Preferred Name |
Myoclonic Epilepsies, Progressive |
|
| Synonyms |
Biotin-Responsive Encephalopathies Myoclonus-Nephropathy Syndromes |
|
| Definitions |
A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D020191 |
|
| altLabel |
Biotin-Responsive Encephalopathies Progressive Myoclonus Epilepsy Epilepsy, Progressive Myoclonus Haw River Syndrome Naito-Oyanagi Disease Naito-Oyanagi Diseases Atrophy, Dentatorubral-Pallidoluysian Progressive Myoclonus Epilepsies Inclusion-Body Diseases, Atypical Myoclonus Epilepsies, Progressive River Syndromes, Haw Atrophies, Dentatorubral-Pallidoluysian Dentatorubral-Pallidoluysian Atrophies Epilepsies, Progressive Myoclonic Syndromes, Myoclonus-Nephropathy Myoclonus-Nephropathy Syndrome Encephalopathies, Biotin-Responsive Dentatorubral Pallidoluysian Atrophy Epilepsies, Progressive Myoclonus Action Myoclonus-Renal Failure Syndrome Haw River Syndromes Myoclonic Epilepsy, Progressive Progressive Myoclonic Epilepsy Myoclonus Nephropathy Syndrome Progressive Myoclonic Epilepsies Inclusion-Body Disease, Atypical May-White Syndrome Action Myoclonus Renal Failure Syndrome Ataxia, Chorea, Seizures, And Dementia Epilepsy, Progressive Myoclonic Biotin Responsive Encephalopathy May White Syndrome Atypical Inclusion Body Disease Encephalopathy, Biotin-Responsive Atypical Inclusion-Body Diseases Familial Progressive Myoclonic Epilepsy Biotin-Responsive Encephalopathy Naito Oyanagi Disease Atypical Inclusion-Body Disease Dentatorubral-Pallidoluysian Atrophy Myoclonus-Nephropathy Syndromes |
|
| 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 |
C0751778 C0751777 C0751781 C0751782 C0751780 C0751779 C0751776 |
|
| DC |
1 |
|
| definition |
A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME. |
|
| 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 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C567095 http://purl.bioontology.org/ontology/MESH/C580388 http://purl.bioontology.org/ontology/MESH/C538427 |
|
| MDA |
19991104 |
|
| MMR |
20170224 |
|
| MN |
C10.228.140.490.375.130.650 C10.228.140.490.493.063.650 |
|
| notation |
D020191 |
|
| prefLabel |
Myoclonic Epilepsies, Progressive |
|
| TERMUI |
T369660 T014729 T812451 T812453 T369657 T369655 T369661 T369658 T812450 T812449 T369656 T812454 T369659 T752576 T369654 |
|
| TH |
OMIM (2013) NLM (2000) UNK (19XX) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |