{
  "id": 10913,
  "label": "action myoclonus-renal failure syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009699",
  "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."
  },
  "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"
    }
  ]
}