{
  "id": 14555,
  "label": "progressive myoclonic epilepsy type 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013526",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": [],
  "roots": [
    {
      "id": 19726,
      "label": "progressive myoclonus epilepsy"
    }
  ]
}