{
  "id": 12517,
  "label": "familial encephalopathy with neuroserpin inclusion bodies",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011412",
  "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."
  },
  "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"
    },
    {
      "id": 23939,
      "label": "Mendelian encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "An instance of encephalopathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 19,
      "reference_id": "MONDO:0100198"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19726,
      "label": "progressive myoclonus epilepsy"
    },
    {
      "id": 23939,
      "label": "Mendelian encephalopathy"
    }
  ]
}