{
  "id": 26311,
  "label": "juvenile neuronal ceroid lipofuscinosis 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0979368",
  "properties": {
    "xrefs": [
      "Orphanet:700472"
    ],
    "synonyms": [
      "juvenile CLN6 disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12266,
      "label": "ceroid lipofuscinosis, neuronal, 6A",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16446,
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110729",
          "GARD:0001224",
          "MEDGEN:1790423",
          "MESH:C566627",
          "OMIM:601780",
          "Orphanet:228363",
          "UMLS:C5551375"
        ],
        "synonyms": [
          "CLN6",
          "CLN6 late infantile neuronal ceroid lipofuscinosis",
          "CLN6A",
          "ceroid lipofuscinosis, neuronal, type 6",
          "late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6",
          "neuronal ceroid lipofuscinosis type 6",
          "neuronal ceroid lipofuscinosis, late infantile, variant",
          "vLINCL",
          "CLN6 disease",
          "CLN6 disease, adult Kufs type A (subtype)",
          "CLN6 disease, late infantile (subtype)",
          "ceroid lipofuscinosis, neuronal, 6",
          "ceroid lipofuscinosis, neuronal, 6, variable age at onset",
          "neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011144"
    },
    {
      "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": 12266,
      "label": "ceroid lipofuscinosis, neuronal, 6A"
    },
    {
      "id": 19123,
      "label": "juvenile neuronal ceroid lipofuscinosis"
    }
  ]
}