{
  "id": 19726,
  "label": "progressive myoclonus epilepsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020074",
  "properties": {
    "xrefs": [
      "DOID:891",
      "GARD:0007140",
      "MEDGEN:199732",
      "MESH:D020191",
      "NANDO:1200953",
      "NANDO:2100237",
      "NCIT:C7636",
      "NORD:1617",
      "OMIMPS:254800",
      "Orphanet:98261",
      "SCTID:267581004",
      "UMLS:C0751778",
      "icd11.foundation:173613583"
    ],
    "synonyms": [
      "PME",
      "epilepsy, progressive myoclonic",
      "progressive myoclonic epilepsy",
      "progressive myoclonic epilepsy (disorder) [ambiguous]",
      "progressive myoclonus epilepsy",
      "familial progressive myoclonic epilepsy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "parents": [
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    },
    {
      "id": 24301,
      "label": "myoclonic epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027276",
          "MEDGEN:4988",
          "UMLS:C0014550"
        ],
        "synonyms": [
          "myoclonic epilepsy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of epilepsy syndromes in which myoclonic seizures are a prominent feature."
      },
      "child_count": 7,
      "reference_id": "MONDO:0100577"
    },
    {
      "id": 25079,
      "label": "variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24339
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027300"
        ],
        "synonyms": [
          "VAE-SDE/PND"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An epilepsy syndrome characterized by seizures along with developmental and/or epileptic encephalopathy or progressive neurological deterioration where age at seizure onset varies."
      },
      "child_count": 2,
      "reference_id": "MONDO:0800495"
    }
  ],
  "children": [
    {
      "id": 10911,
      "label": "Lafora disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4502,
        7073,
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3534",
          "GARD:0008214",
          "MEDGEN:155631",
          "MESH:D020192",
          "MedDRA:10054030",
          "NANDO:1200955",
          "NANDO:2200881",
          "NCIT:C84804",
          "NORD:143373",
          "OMIMPS:254780",
          "Orphanet:501",
          "SCTID:230425004",
          "UMLS:C0751783"
        ],
        "synonyms": [
          "EPM2",
          "Lafora disease",
          "PME type 2",
          "epilepsy, progressive myoclonic 2A (Lafora)",
          "epilepsy, progressive myoclonic 2B (Lafora)",
          "myoclonic epilepsy of Lafora",
          "progressive myoclonic epilepsy type 2",
          "progressive myoclonus epilepsy type 2",
          "Epm2",
          "Lafora body disease",
          "Lafora body disorder",
          "Melf",
          "epilepsy progressive myoclonic 2",
          "epilepsy, progressive myoclonic, 2A",
          "epilepsy, progressive myoclonic, 2B"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline."
      },
      "child_count": 6,
      "reference_id": "MONDO:0009697"
    },
    {
      "id": 10912,
      "label": "Unverricht-Lundborg syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7073,
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111452",
          "DOID:3535",
          "GARD:0003876",
          "MEDGEN:155923",
          "MESH:D020194",
          "MedDRA:10054895",
          "NANDO:1200954",
          "NANDO:2200880",
          "OMIM:254800",
          "Orphanet:308",
          "SCTID:230423006",
          "UMLS:C0751785"
        ],
        "synonyms": [
          "PME type 1",
          "ULD",
          "Unverricht-Lundborg disease",
          "Unverricht-Lundborg syndrome",
          "epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)",
          "progressive myoclonic epilepsy type 1",
          "progressive myoclonus epilepsy type 1",
          "Baltic myoclonic epilepsy",
          "EPM1",
          "Uld",
          "epilepsy, progressive myoclonic type 1",
          "epilepsy, progressive myoclonic, 1",
          "epilepsy, progressive myoclonic, 1A",
          "epilepsy, progressive myoclonus 1",
          "myoclonic epilepsy of Unverricht and Lundborg",
          "myoclonus progressive epilepsy of Unverricht and Lundborg",
          "progressive myoclonic epilepsy",
          "progressive myoclonus epilepsy Baltic myoclonic epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009698"
    },
    {
      "id": 10913,
      "label": "action myoclonus-renal failure syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111444",
          "GARD:0017000",
          "MEDGEN:155629",
          "OMIM:254900",
          "Orphanet:163696",
          "SCTID:764453009",
          "UMLS:C0751779"
        ],
        "synonyms": [
          "AMRF",
          "EPM4",
          "action myoclonus-renal failure syndrome",
          "epilepsy, progressive myoclonic 4, with or without renal failure",
          "epilepsy, progressive myoclonic, 4, with or without renal failure",
          "myoclonus-nephropathy syndrome",
          "progressive myoclonic epilepsy type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009699"
    },
    {
      "id": 11927,
      "label": "MERRF syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        4427,
        6459,
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:310",
          "GARD:0007144",
          "ICD10CM:E88.42",
          "ICD9:277.87",
          "MEDGEN:56486",
          "MESH:D017243",
          "MedDRA:10069825",
          "NANDO:1200177",
          "NANDO:2200526",
          "NCIT:C84889",
          "NORD:1441",
          "OMIM:545000",
          "Orphanet:551",
          "SCTID:68448003",
          "UMLS:C0162672"
        ],
        "synonyms": [
          "Fukuhara syndrome",
          "MERRF",
          "MERRF syndrome",
          "myoclonic epilepsy - ragged red fibres",
          "myoclonus epilepsy and ragged red fibres",
          "myoclonus epilepsy associated with ragged-red fibers",
          "myoclonus epilepsy associated with ragged-red fibres",
          "myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)",
          "myoclonus with epilepsy and with ragged Red fibres",
          "myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)",
          "myoclonic epilepsy associated with ragged red fibers",
          "myoclonic epilepsy associated with ragged red fibres",
          "myoclonic epilepsy associated with ragged-RED fibers",
          "myoclonic epilepsy associated with ragged-RED fibres",
          "myoclonic epilepsy with ragged red fibers",
          "myoclonic epilepsy with ragged red fibres",
          "myoencephalopathy ragged-red fiber disease",
          "myoencephalopathy ragged-red fibre disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010790"
    },
    {
      "id": 12517,
      "label": "familial encephalopathy with neuroserpin inclusion bodies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19726,
        23939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050831",
          "GARD:0010037",
          "ICD9:348.39",
          "MEDGEN:346965",
          "MESH:C536841",
          "NORD:1123",
          "OMIM:604218",
          "Orphanet:85110",
          "SCTID:702421006",
          "UMLS:C1858680",
          "icd11.foundation:453919434"
        ],
        "synonyms": [
          "FENIB",
          "encephalopathy, familial, with Collins bodies",
          "encephalopathy, familial, with neuroserpin inclusion bodies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has material basis in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011412"
    },
    {
      "id": 13442,
      "label": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11966,
        16437,
        16607,
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110724",
          "GARD:0004010",
          "ICD10CM:G40.3",
          "MEDGEN:355328",
          "OMIM:610003",
          "Orphanet:1947",
          "Orphanet:530298",
          "UMLS:C1864923"
        ],
        "synonyms": [
          "CLN8 disease, Northern epilepsy variant",
          "EPMR",
          "NCL, Northern epilepsy variant",
          "Northern epilepsy",
          "early onset familial encephalopathy with neuroserpin inclusion bodies",
          "neuronal ceroid lipofuscinosis, Northern epilepsy variant",
          "progressive epilepsy with intellectual disability, northern epilepsy",
          "progressive epilepsy-intellectual disability syndrome, Finnish type",
          "progressive myoclonic epilepsy with neuroserpin inclusion bodies",
          "CLN8",
          "CLN8 disease, EPMR (subtype)",
          "CLN8 disease, late infantile (subtype)",
          "ceroid lipofuscinosis neuronal 8",
          "ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant",
          "epilepsy mental deterioration Finnish type",
          "epilepsy, progressive, with intellectual disability",
          "epilepsy, progressive, with mental retardation",
          "neuronal ceroid lipofuscinosis 8",
          "progressive epilepsy - intellectual disability, Finnish type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012391"
    },
    {
      "id": 13761,
      "label": "progressive myoclonic epilepsy type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16168,
        16851,
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111446",
          "GARD:0002167",
          "MEDGEN:388595",
          "MESH:C567095",
          "OMIM:611726",
          "Orphanet:263516",
          "Orphanet:699708",
          "SCTID:783064000",
          "UMLS:C2673257",
          "icd11.foundation:383417276"
        ],
        "synonyms": [
          "CLN14 disease",
          "EPM3",
          "KCTD7 progressive myoclonic epilepsy",
          "PME type 3",
          "epilepsy, progressive myoclonic 3, with or without intracellular inclusions",
          "neuronal ceroid lipofuscinosis type 14",
          "progressive myoclonic epilepsy caused by mutation in KCTD7",
          "progressive myoclonic epilepsy due to KCTD7 deficiency",
          "progressive myoclonic epilepsy type 3",
          "progressive myoclonus epilepsy type 3",
          "EPM 3",
          "epilepsy progressive myoclonic type 3",
          "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions",
          "progressive myoclonic epilepsy 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012721"
    },
    {
      "id": 13944,
      "label": "epilepsy, progressive myoclonic, 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111448",
          "GARD:0015556",
          "ICD9:345.10",
          "MEDGEN:394003",
          "MESH:C580388",
          "OMIM:612437",
          "SCTID:702326000",
          "UMLS:C2676254"
        ],
        "synonyms": [
          "PRICKLE1 progressive myoclonic epilepsy",
          "epilepsy, progressive myoclonic 1B",
          "epilepsy, progressive myoclonic, 1B",
          "epilepsy, progressive myoclonic, type 1B",
          "progressive myoclonic epilepsy caused by mutation in PRICKLE1",
          "EPM1B"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012904"
    },
    {
      "id": 14555,
      "label": "progressive myoclonic epilepsy type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111449",
          "GARD:0003872",
          "MEDGEN:1681379",
          "OMIM:614018",
          "Orphanet:280620",
          "UMLS:C5190805",
          "icd11.foundation:878291417"
        ],
        "synonyms": [
          "EPM6",
          "GOSR2 progressive myoclonic epilepsy",
          "GOSR2-related progressive myoclonus ataxia",
          "North Sea progressive myoclonus epilepsy",
          "PME type 6",
          "epilepsy, progressive myoclonic 6",
          "epilepsy, progressive myoclonic, type 6",
          "progressive myoclonic epilepsy caused by mutation in GOSR2",
          "progressive myoclonus epilepsy type 6",
          "epilepsy, progressive myoclonic, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013526"
    },
    {
      "id": 15520,
      "label": "progressive myoclonic epilepsy type 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7073,
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111447",
          "GARD:0017715",
          "MEDGEN:863857",
          "NCIT:C142804",
          "OMIM:616187",
          "Orphanet:435438",
          "UMLS:C4015420"
        ],
        "synonyms": [
          "EPM7",
          "KCNC1 progressive myoclonic epilepsy",
          "MEAK",
          "PME type 7",
          "epilepsy, progressive myoclonic type 7",
          "meak",
          "myoclonus epilepsy and ataxia due to potassium channel mutation",
          "progressive myoclonic epilepsy caused by mutation in KCNC1",
          "progressive myoclonic epilepsy due to KV3.1 deficiency",
          "progressive myoclonus epilepsy type 7",
          "epilepsy, progressive myoclonic 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014521"
    },
    {
      "id": 15544,
      "label": "progressive myoclonic epilepsy type 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18270,
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111451",
          "GARD:0017706",
          "MEDGEN:1680582",
          "OMIM:616230",
          "Orphanet:424027",
          "UMLS:C5190825"
        ],
        "synonyms": [
          "CERS1 progressive myoclonic epilepsy",
          "EPM8",
          "PME type 8",
          "epilepsy, progressive myoclonic, type 8",
          "progressive myoclonic epilepsy caused by mutation in CERS1",
          "progressive myoclonic epilepsy due to CERS1 deficiency",
          "progressive myoclonus epilepsy type 8",
          "epilepsy, progressive myoclonic, 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014545"
    },
    {
      "id": 15680,
      "label": "progressive myoclonic epilepsy type 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111450",
          "GARD:0017801",
          "MEDGEN:901242",
          "OMIM:616540",
          "Orphanet:457265",
          "UMLS:C4225289"
        ],
        "synonyms": [
          "EPM9",
          "LMNB2 progressive myoclonic epilepsy",
          "PME type 9",
          "epilepsy, progressive myoclonic, type 9",
          "progressive myoclonic epilepsy caused by mutation in LMNB2",
          "progressive myoclonic epilepsy due to LMNB2 deficiency",
          "progressive myoclonus epilepsy type 9",
          "epilepsy, progressive myoclonic, 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014685"
    },
    {
      "id": 15710,
      "label": "early-onset Lafora body disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111445",
          "GARD:0017482",
          "MEDGEN:907932",
          "OMIM:616640",
          "Orphanet:324290",
          "SCTID:733082001",
          "UMLS:C4225258"
        ],
        "synonyms": [
          "EPM10",
          "epilepsy, progressive myoclonic, 10",
          "epilepsy, progressive myoclonic, type 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014717"
    },
    {
      "id": 21816,
      "label": "epilepsy, progressive myoclonic, 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025513",
          "MEDGEN:1716712",
          "OMIM:618876",
          "UMLS:C5394362"
        ],
        "synonyms": [
          "EPILEPSY, PROGRESSIVE MYOCLONIC, 11",
          "EPM11",
          "epilepsy, progressive myoclonic, 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030034"
    },
    {
      "id": 22140,
      "label": "epilepsy, progressive myoclonic, 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025665",
          "MEDGEN:1778162",
          "OMIM:619191",
          "UMLS:C5543069"
        ],
        "synonyms": [
          "EPM12",
          "epilepsy, progressive myoclonic, 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030936"
    }
  ],
  "roots": [
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    },
    {
      "id": 24301,
      "label": "myoclonic epilepsy"
    },
    {
      "id": 25079,
      "label": "variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration"
    }
  ]
}