{
  "id": 15154,
  "label": "neuronal ceroid lipofuscinosis 13",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014147",
  "properties": {
    "xrefs": [
      "DOID:0110727",
      "GARD:0017527",
      "MEDGEN:811566",
      "OMIM:615362",
      "Orphanet:352709",
      "UMLS:C3715049"
    ],
    "synonyms": [
      "CLN13",
      "CTSF neuronal ceroid lipofuscinosis",
      "ceroid lipofuscinosis, neuronal, 13 (Kufs type)",
      "ceroid lipofuscinosis, neuronal, type 13",
      "neuronal ceroid lipofuscinosis caused by mutation in CTSF",
      "neuronal ceroid lipofuscinosis type 13",
      "CLN13 disease",
      "ceroid lipofuscinosis, neuronal, 13",
      "ceroid lipofuscinosis, neuronal, 13, Kufs type"
    ],
    "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 CTSF gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19121,
      "label": "adult neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010973",
          "MEDGEN:7230",
          "NANDO:1200155",
          "NANDO:2201244",
          "NORD:1341",
          "Orphanet:79262",
          "SCTID:62009002",
          "UMLS:C0022797",
          "icd11.foundation:1460031344"
        ],
        "synonyms": [
          "ANCL",
          "Kufs disease",
          "adult NCL",
          "adult neuronal ceroid lipofuscinosis",
          "neuronal ceroid lipofuscinosis of adults",
          "CLN4 disease, adult autosomal dominant",
          "Kuf's disease",
          "neuronal ceroid lipofuscinosis 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019260"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19121,
      "label": "adult neuronal ceroid lipofuscinosis"
    }
  ]
}