{
  "id": 19123,
  "label": "juvenile neuronal ceroid lipofuscinosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019262",
  "properties": {
    "xrefs": [
      "DOID:0050756",
      "GARD:0004938",
      "MedDRA:10052073",
      "NANDO:1200154",
      "NANDO:2201243",
      "Orphanet:79264",
      "SCTID:61663001",
      "icd11.foundation:1716107919"
    ],
    "synonyms": [
      "JNCL",
      "Spielmeyer-Vogt disease",
      "batten disease",
      "juvenile NCL",
      "juvenile neuronal ceroid lipofuscinosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "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"
    },
    {
      "id": 19753,
      "label": "cerebral lipidosis with dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        19108,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10742",
          "GARD:0019491",
          "ICD9:330.1",
          "MEDGEN:1825994",
          "Orphanet:98544",
          "SCTID:16517004",
          "UMLS:C5681730"
        ],
        "synonyms": [
          "cerebral lipidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0020143"
    }
  ],
  "children": [
    {
      "id": 13251,
      "label": "neuronal ceroid lipofuscinosis 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110733",
          "GARD:0006618",
          "MEDGEN:332304",
          "MESH:C537953",
          "OMIM:609055",
          "Orphanet:228357",
          "UMLS:C1836841"
        ],
        "synonyms": [
          "CLN9",
          "neuronal ceroid lipofuscinosis type 9",
          "CLN 9",
          "CLN9 disease",
          "ceroid lipofuscinosis, neuronal, 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012188"
    },
    {
      "id": 18030,
      "label": "parkinsonism due to ATP13A2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12794,
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017427",
          "MEDGEN:1687881",
          "Orphanet:314632",
          "SCTID:789657008",
          "UMLS:C5230619"
        ],
        "synonyms": [
          "CLN12 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017809"
    },
    {
      "id": 26291,
      "label": "juvenile neuronal ceroid lipofuscinosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10955,
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699739"
        ],
        "synonyms": [
          "juvenile CLN1 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979341"
    },
    {
      "id": 26295,
      "label": "juvenile neuronal ceroid lipofuscinosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10041,
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699769"
        ],
        "synonyms": [
          "juvenile CLN2 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979345"
    },
    {
      "id": 26296,
      "label": "juvenile neuronal ceroid lipofuscinosis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10039,
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699780"
        ],
        "synonyms": [
          "juvenile CLN3 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979346"
    },
    {
      "id": 26299,
      "label": "juvenile neuronal ceroid lipofuscinosis 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10956,
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699807"
        ],
        "synonyms": [
          "juvenile CLN5 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979349"
    },
    {
      "id": 26311,
      "label": "juvenile neuronal ceroid lipofuscinosis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12266,
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700472"
        ],
        "synonyms": [
          "juvenile CLN6 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979368"
    },
    {
      "id": 26315,
      "label": "juvenile neuronal ceroid lipofuscinosis 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13465,
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700497"
        ],
        "synonyms": [
          "juvenile CLN10 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979373"
    }
  ],
  "roots": [
    {
      "id": 16851,
      "label": "neuronal ceroid lipofuscinosis"
    },
    {
      "id": 19753,
      "label": "cerebral lipidosis with dementia"
    }
  ]
}