{
  "id": 24910,
  "label": "myoclonic epilepsy of Lafora 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800306",
  "properties": {
    "xrefs": [
      "DOID:0061211",
      "GARD:0026491",
      "MEDGEN:340621",
      "OMIM:620681",
      "UMLS:C1850764"
    ],
    "synonyms": [
      "EPM2B",
      "Lafora disease 2",
      "MELF2",
      "epilepsy, progressive myoclonic, 2B",
      "myoclonic epilepsy of Lafora 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10911,
      "label": "Lafora disease"
    }
  ]
}