{
  "id": 10911,
  "label": "Lafora disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009697",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4502,
      "label": "disorder of glycogen metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082,
        19107
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050728",
          "DOID:2747",
          "GARD:0018973",
          "ICD10CM:E74.0",
          "ICD9:271.0",
          "MEDGEN:6639",
          "MESH:D006008",
          "MedDRA:10061990",
          "NANDO:1200838",
          "NCIT:C61272",
          "OMIMPS:232200",
          "Orphanet:79201",
          "SCTID:29633007",
          "UMLS:C0017919",
          "icd11.foundation:1187107383"
        ],
        "synonyms": [
          "GSD",
          "glycogen storage disease",
          "glycogen storage disorder",
          "glycogenoses",
          "glycogenosis",
          "inborn error of glycogen metabolic process",
          "inborn glycogen metabolic process disorder",
          "inborn glycogen storage disorder",
          "rare inborn error of glycogen metabolic process"
        ],
        "definition": "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues."
      },
      "child_count": 48,
      "reference_id": "MONDO:0002412"
    },
    {
      "id": 7073,
      "label": "movement disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:480",
          "EFO:0004280",
          "ICD9:333.90",
          "ICD9:333.99",
          "MEDGEN:10113",
          "MESH:D009069",
          "NCIT:C116757",
          "SCTID:60342002",
          "UMLS:C0026650"
        ],
        "synonyms": [
          "movement disease",
          "movement disorder",
          "movement disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement."
      },
      "child_count": 54,
      "reference_id": "MONDO:0005395"
    },
    {
      "id": 19726,
      "label": "progressive myoclonus epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24301,
        25079
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 45,
      "reference_id": "MONDO:0020074"
    }
  ],
  "children": [
    {
      "id": 24910,
      "label": "myoclonic epilepsy of Lafora 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10911
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800306"
    },
    {
      "id": 25872,
      "label": "myoclonic epilepsy of Lafora 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10911
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070660",
          "GARD:0026971",
          "OMIM:254780"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0958199"
    }
  ],
  "roots": [
    {
      "id": 4502,
      "label": "disorder of glycogen metabolism"
    },
    {
      "id": 7073,
      "label": "movement disorder"
    },
    {
      "id": 19726,
      "label": "progressive myoclonus epilepsy"
    }
  ]
}