{
  "id": 13442,
  "label": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012391",
  "properties": {
    "xrefs": [
      "DOID:0110724",
      "GARD:0004010",
      "ICD10CM:G40.3",
      "MEDGEN:355328",
      "OMIM:610003",
      "Orphanet:1947",
      "Orphanet:530298",
      "UMLS:C1864923"
    ],
    "synonyms": [
      "CLN8 disease, Northern epilepsy variant",
      "EPMR",
      "NCL, Northern epilepsy variant",
      "Northern epilepsy",
      "early onset familial encephalopathy with neuroserpin inclusion bodies",
      "neuronal ceroid lipofuscinosis, Northern epilepsy variant",
      "progressive epilepsy with intellectual disability, northern epilepsy",
      "progressive epilepsy-intellectual disability syndrome, Finnish type",
      "progressive myoclonic epilepsy with neuroserpin inclusion bodies",
      "CLN8",
      "CLN8 disease, EPMR (subtype)",
      "CLN8 disease, late infantile (subtype)",
      "ceroid lipofuscinosis neuronal 8",
      "ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant",
      "epilepsy mental deterioration Finnish type",
      "epilepsy, progressive, with intellectual disability",
      "epilepsy, progressive, with mental retardation",
      "neuronal ceroid lipofuscinosis 8",
      "progressive epilepsy - intellectual disability, Finnish type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11966,
      "label": "neuronal ceroid lipofuscinosis 8",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110723",
          "GARD:0017152",
          "MEDGEN:374004",
          "MESH:C537952",
          "OMIM:600143",
          "Orphanet:228354",
          "SCTID:703526007",
          "UMLS:C1838570"
        ],
        "synonyms": [
          "CLN8",
          "CLN8 neuronal ceroid lipofuscinosis",
          "ceroid lipofuscinosis, neuronal, type 8",
          "neuronal ceroid lipofuscinosis 8",
          "neuronal ceroid lipofuscinosis caused by mutation in CLN8",
          "neuronal ceroid lipofuscinosis type 8",
          "CLN8 disease",
          "ceroid lipofuscinosis, neuronal, 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010830"
    },
    {
      "id": 16437,
      "label": "monogenic epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020086",
          "MEDGEN:1842675",
          "Orphanet:166472",
          "UMLS:C5680430"
        ],
        "synonyms": [
          "monogenic disease with epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0015653"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "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": 11966,
      "label": "neuronal ceroid lipofuscinosis 8"
    },
    {
      "id": 16437,
      "label": "monogenic epilepsy"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 19726,
      "label": "progressive myoclonus epilepsy"
    }
  ]
}