{
  "id": 10039,
  "label": "neuronal ceroid lipofuscinosis 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008767",
  "properties": {
    "xrefs": [
      "DOID:0110731",
      "GARD:0005897",
      "MEDGEN:155549",
      "NCIT:C61258",
      "NORD:843",
      "OMIM:204200",
      "Orphanet:228346",
      "UMLS:C0751383"
    ],
    "synonyms": [
      "CLN3",
      "CLN3 neuronal ceroid lipofuscinosis",
      "Juvenile CLN3 Disease",
      "ceroid lipofuscinosis, neuronal, type 3",
      "neuronal ceroid lipofuscinosis 3",
      "neuronal ceroid lipofuscinosis caused by mutation in CLN3",
      "neuronal ceroid lipofuscinosis type 3",
      "CLN3 disease",
      "CLN3 disease, juvenile",
      "Spielmeyer Sjogren disease",
      "Spielmeyer-Sjogren disease",
      "Vogt Spielmeyer disease",
      "Vogt-Spielmeyer disease",
      "batten disease",
      "ceroid lipofuscinosis, neuronal, 3",
      "neuronal ceroid lipofuscinosis, juvenile"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
  },
  "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": 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": 26297,
      "label": "protracted juvenile neuronal ceroid lipofuscinosis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10039
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699796"
        ],
        "synonyms": [
          "protracted juvenile CLN3 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979347"
    }
  ],
  "roots": [
    {
      "id": 16851,
      "label": "neuronal ceroid lipofuscinosis"
    }
  ]
}