{
  "id": 11966,
  "label": "neuronal ceroid lipofuscinosis 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010830",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16851,
      "label": "neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19108,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14503",
          "GARD:0010739",
          "ICD10CM:E75.4",
          "MEDGEN:10326",
          "NANDO:1200150",
          "NANDO:2200573",
          "NCIT:C61257",
          "OMIMPS:256730",
          "Orphanet:216",
          "SCTID:42012007",
          "UMLS:C0027877",
          "icd11.foundation:1568332253"
        ],
        "synonyms": [
          "NCL",
          "ceroid lipofuscinoses",
          "neuronal ceroid lipofuscinosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina."
      },
      "child_count": 28,
      "reference_id": "MONDO:0016295"
    }
  ],
  "children": [
    {
      "id": 13442,
      "label": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11966,
        16437,
        16607,
        19726
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012391"
    },
    {
      "id": 26312,
      "label": "late infantile neuronal ceroid lipofuscinosis 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11966
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700484"
        ],
        "synonyms": [
          "late infantile CLN8 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979370"
    }
  ],
  "roots": [
    {
      "id": 16851,
      "label": "neuronal ceroid lipofuscinosis"
    }
  ]
}