{
  "id": 13251,
  "label": "neuronal ceroid lipofuscinosis 9",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012188",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19123,
      "label": "juvenile neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 16,
      "reference_id": "MONDO:0019262"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19123,
      "label": "juvenile neuronal ceroid lipofuscinosis"
    }
  ]
}